Endocrinology and Metabolism

Jung Hee Kim (Kim JH)

56 Articles

Mineral, bone & muscle
Comparison of the Effectiveness and Hypocalcemia Risk of Antiresorptive Agents in Patients with Hypercalcemia of Malignancy: Sung Hye Kong, Seung Shin Park, Jung Hee Kim, Sang Wan Kim, Se Hyun Kim, Jee Hyun Kim, Chan Soo Shin; Endocrinol Metab. 2025;40(2):289-298. Published online February 4, 2025; DOI: https://doi.org/10.3803/EnM.2024.2132

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Abstract PDF Supplementary Material PubReader ePub: Background
Hypercalcemia of malignancy (HCM), a major metabolic complication of cancer, is often managed with bisphosphonates (BP) and, increasingly, with denosumab. We aimed to compare the effectiveness and safety of denosumab with that of BP, with or without calcitonin, in treating HCM.
Methods
This retrospective cohort study was conducted at a tertiary hospital from 2017 to 2022 and included 317 patients treated for HCM. Participants were divided into three treatment groups: denosumab, intravenous (IV) BP only, and IV BP combined with calcitonin. The primary outcomes measured were changes in calcium levels and the incidence of hypocalcemia. Analysis of covariance was used to adjust for age, sex, body mass index, creatinine level, type of malignancy, and the use of furosemide and steroids.
Results
The mean participant age was 65 years, and 37.5% were female. After adjustment, both denosumab and IV BPs were found to effectively lower calcium levels. Denosumab led to a decrease of 2.0 mg/dL (−15.9%), while IV BP alone resulted in a reduction of 1.8 mg/dL (−13.9%). The largest reduction, of 2.7 mg/dL (−20.9%), occurred with IV BP and calcitonin. Both denosumab and IV BP+calcitonin yielded their lowest calcium levels within 48 hours, whereas the IV BP only group reached a nadir within 72 hours. Despite these differences in treatment effectiveness, hypocalcemia occurred significantly less frequently in the denosumab group compared to the other groups.
Conclusion
Denosumab and IV BP were similarly effective in reducing calcium levels. However, IV BP combined with calcitonin yielded a more rapid and pronounced decrease.

Mineral, Bone & Muscle Big Data Articles (National Health Insurance Service Database)
Elevated Fracture Risks in Patients Using Inhaled Corticosteroids: A Korean Nationwide Study: Sung Hye Kong, Ae Jeong Jo, Chan Mi Park, Kyun Ik Park, Ji Eun Yun, Jung Hee Kim; Endocrinol Metab. 2025;40(1):82-92. Published online August 30, 2024; DOI: https://doi.org/10.3803/EnM.2024.1990

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Abstract PDF Supplementary Material PubReader ePub: Background
In this comprehensive retrospective nationwide cohort study, we examined the relationships between various asthma medications and bone health, utilizing data from the National Health Insurance Service database of South Korea.
Methods
From 2015 to 2019, the relevant dataset included 168,611 individuals aged 66 years, among whom 8,747 were diagnosed with asthma. We focused on a subset of 6,173 patients, all 66-year-old women. Participants were categorized into four groups: nonusers of asthma medication (n=2,868), leukotriene antagonist users (n=2,281), inhaled corticosteroid (ICS) users (n=517), and those using a combination of ICS and long-acting beta-agonist (ICS+LABA) medication (n=507). The primary outcomes measured were the incidences of major osteoporotic fractures and hip fractures during the follow-up period.
Results
Over 2.7 years of follow-up, 615 cases of major osteoporotic fractures and 96 cases of hip fractures were recorded. ICS users exhibited a heightened risk of both injuries, with hazard ratios of 1.38 (95% confidence interval [CI], 1.18 to 1.63; P<0.001) for major osteoporotic fractures and 1.56 (95% CI, 1.33 to 1.83; P<0.001) for hip fractures. Similarly elevated risks were observed in the ICS+LABA group. Notably, the risk associated with ICS was particularly pronounced among patients with osteopenia for both fracture types. Overall, the use of ICS, alone or in combination with LABA, in patients with asthma is associated with significantly increased risks of osteoporotic fractures, especially among those with osteopenia.
Conclusion
These findings underscore the importance of considering bone health when managing asthma, especially in older patients and those with existing bone density issues.

Hypothalamus and pituitary gland
Reframing the Paradigm: A Nuanced Approach to Prolactinoma Management: Jung Hee Kim; Endocrinol Metab. 2024;39(6):850-852. Published online November 5, 2024; DOI: https://doi.org/10.3803/EnM.2024.2098

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Hypothalamus and pituitary gland
Genetic Landscape and Clinical Manifestations of Multiple Endocrine Neoplasia Type 1 in a Korean Cohort: A Multicenter Retrospective Analysis: Boram Kim, Seung Hun Lee, Chang Ho Ahn, Han Na Jang, Sung Im Cho, Jee-Soo Lee, Yu-Mi Lee, Su-Jin Kim, Tae-Yon Sung, Kyu Eun Lee, Woochang Lee, Jung-Min Koh, Moon-Woo Seong, Jung Hee Kim; Endocrinol Metab. 2024;39(6):956-964. Published online November 18, 2024; DOI: https://doi.org/10.3803/EnM.2024.2008

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Abstract PDF Supplementary Material PubReader ePub: Background
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized by tumors in multiple endocrine organs, caused by variants in the MEN1 gene. This study analyzed the clinical and genetic features of MEN1 in a Korean cohort, identifying prevalent manifestations and genetic variants, including novel variants.
Methods
This multicenter retrospective study reviewed the medical records of 117 MEN1 patients treated at three tertiary centers in Korea between January 2012 and September 2022. Patient demographics, tumor manifestations, outcomes, and MEN1 genetic testing results were collected. Variants were classified using American College of Medical Genetics and Genomics (ACMG) and French Oncogenetics Network of Neuroendocrine Tumors propositions (TENGEN) guidelines.
Results
A total of 117 patients were enrolled, including 55 familial cases, with a mean age at diagnosis of 37.4±15.3 years. Primary hyperparathyroidism was identified as the most common presentation (84.6%). The prevalence of gastroenteropancreatic neuroendocrine tumor and pituitary neuroendocrine tumor (PitNET) was 77.8% (n=91) and 56.4% (n=66), respectively. Genetic testing revealed 61 distinct MEN1 variants in 101 patients, with 18 being novel. Four variants were reclassified according to the TENGEN guidelines. Patients with truncating variants (n=72) exhibited a higher prevalence of PitNETs compared to those with non-truncating variants (n=25) (59.7% vs. 36.0%, P=0.040).
Conclusion
The association between truncating variants and an increased prevalence of PitNETs in MEN1 underscores the importance of genetic characterization in guiding the clinical management of this disease. Our study sheds light on the clinical and genetic characteristics of MEN1 among the Korean population.

Adrenal gland
The Modified S-GRAS Scoring System for Prognosis in Korean with Adrenocortical Carcinoma: Sun Kyung Baek, Seung Hun Lee, Seung Shin Park, Chang Ho Ahn, Sung Hye Kong, Won Woong Kim, Yu-Mi Lee, Su Jin Kim, Dong Eun Song, Tae-Yon Sung, Kyu Eun Lee, Jung Hee Kim, Kyeong Cheon Jung, Jung-Min Koh; Endocrinol Metab. 2024;39(5):803-812. Published online September 25, 2024; DOI: https://doi.org/10.3803/EnM.2024.2086

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Abstract PDF Supplementary Material PubReader ePub: Background
Adrenocortical carcinomas (ACCs) are rare tumors with aggressive but varied prognosis. Stage, Grade, Resection status, Age, Symptoms (S-GRAS) score, based on clinical and pathological factors, was found to best stratify the prognosis of European ACC patients. This study assessed the prognostic performance of modified S-GRAS (mS-GRAS) scores including modified grade (mG) by integrating mitotic counts into the Ki67 index (original grade), in Korean ACC patients.
Methods
Patients who underwent surgery for ACC between January 1996 and December 2022 at three medical centers in Korea were retrospectively analyzed. mS-GRAS scores were calculated based on tumor stage, mG (Ki67 index or mitotic counts), resection status, age, and symptoms. Patients were divided into four groups (0–1, 2–3, 4–5, and 6–9 points) based on total mS-GRAS score. The associations of each variable and mS-GRAS score with recurrence and survival were evaluated using Cox regression analysis, Harrell’s concordance index (C-index), and the Kaplan–Meier method.
Results
Data on mS-GRAS components were available for 114 of the 153 patients who underwent surgery for ACC. These 114 patients had recurrence and death rates of 61.4% and 48.2%, respectively. mS-GRAS score was a significantly better predictor of recurrence (C-index=0.829) and death (C-index=0.747) than each component (P<0.05), except for resection status. mS-GRAS scores correlated with shorter progression-free survival (P=8.34E-24) and overall survival (P=2.72E-13).
Conclusion
mS-GRAS scores showed better prognostic performance than tumor stage and grade in Asian patients who underwent surgery for ACC.

Hypothalamus and pituitary gland
Obstructive Sleep Apnea Screening and Effects of Surgery in Acromegaly: A Prospective Study: Jaeyoung Cho, Jung Hee Kim, Yong Hwy Kim, Jinwoo Lee; Endocrinol Metab. 2024;39(4):641-652. Published online June 26, 2024; DOI: https://doi.org/10.3803/EnM.2024.1933

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Background
To identify a screening tool for obstructive sleep apnea (OSA) and evaluate the effects of endoscopic transsphenoidal surgery on improving OSA in patients with acromegaly.
Methods
We prospectively enrolled adults with acromegaly scheduled for endoscopic transsphenoidal surgery. All measurements were conducted when participants were admitted for a baseline work-up for acromegaly before surgery and surveillance approximately 3 to 6 months after surgery. Respiratory event index (REI) was used as a surrogate for apnea-hypopnea index (Trial Registration: NCT03526016).
Results
Of the 35 patients with acromegaly (median age, 47 years; 40% men; median body mass index, 24.4 kg/m²), 24 (68.6%) had OSA (REI ≥5/hour), 15 (42.9%) had moderate-to-severe OSA (REI ≥15/hour). At baseline, serum insulin-like growth factor 1 (IGF-1) levels were positively correlated with the REI (ρ=0.53, P=0.001). The sensitivity and negative predictive value of a Snoring, Tiredness, Observed apnea, high blood Pressure-Body mass index, age, Neck circumference, and Gender (STOP-Bang) score ≥ 3 were 93.3% and 87.5%, respectively, detecting moderate-to-severe OSA. Biochemical acromegaly remission was achieved in 32 (91.4%) patients. The median difference in the REI was –9.5/hour (95% confidence interval, –13.3 to –5.3). Half of the 24 patients diagnosed with OSA preoperatively had REI <5/hour postoperatively. In a linear mixed-effects model, changes in the REI across surgery were related to changes in IGF-1 levels.
Conclusion
The STOP-Bang questionnaire is a reliable tool for OSA among patients with acromegaly. Improvement in OSA severity after surgery is related to decreased IGF-1 levels.

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Long-Term Prognosis and Systemic Impact of Acromegaly: Analyses Utilizing Korean National Health Insurance Data
Sangmo Hong, Kyungdo Han, Cheol-Young Park
Endocrinology and Metabolism.2025; 40(1): 1. CrossRef
How Different Treatments for Acromegaly Modulate Sleep Quality: A Psychometric Study
Gaspare Alfì, Danilo Menicucci, Dalì Antonia Ciampa, Vito Di Giura, Giulia Marconcini, Claudio Urbani, Fausto Bogazzi, Angelo Gemignani
Endocrines.2024; 5(3): 408. CrossRef

Mineral, Bone & Muscle
Protein Signatures of Parathyroid Adenoma according to Tumor Volume and Functionality: Sung Hye Kong, Jeong Mo Bae, Jung Hee Kim, Sang Wan Kim, Dohyun Han, Chan Soo Shin; Endocrinol Metab. 2024;39(2):375-386. Published online March 21, 2024; DOI: https://doi.org/10.3803/EnM.2023.1827

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Abstract PDF Supplementary Material PubReader ePub: Background
Parathyroid adenoma (PA) is a common endocrine disease linked to multiple complications, but the pathophysiology of the disease remains incompletely understood. The study aimed to identify the key regulator proteins and pathways of PA according to functionality and volume through quantitative proteomic analyses.
Methods
We conducted a retrospective study of 15 formalin-fixed, paraffin-embedded PA samples from tertiary hospitals in South Korea. Proteins were extracted, digested, and the resulting peptides were analyzed using liquid chromatography-tandem mass spectrometry. Pearson correlation analysis was employed to identify proteins significantly correlated with clinical variables. Canonical pathways and transcription factors were analyzed using Ingenuity Pathway Analysis.
Results
The median age of the participants was 52 years, and 60.0% were female. Among the 8,153 protein groups analyzed, 496 showed significant positive correlations with adenoma volume, while 431 proteins were significantly correlated with parathyroid hormone (PTH) levels. The proteins SLC12A9, LGALS3, and CARM1 were positively correlated with adenoma volume, while HSP90AB2P, HLA-DRA, and SCD5 showed negative correlations. DCPS, IRF2BPL, and FAM98A were the main proteins that exhibited positive correlations with PTH levels, and SLITRK4, LAP3, and AP4E1 had negative correlations. Canonical pathway analysis demonstrated that the RAN and sirtuin signaling pathways were positively correlated with both PTH levels and adenoma volume, while epithelial adherence junction pathways had negative correlations.
Conclusion
Our study identified pivotal proteins and pathways associated with PA, offering potential therapeutic targets. These findings accentuate the importance of proteomics in understanding disease pathophysiology and the need for further research.

Hypothalamus and pituitary gland
Preoperative Serum Copeptin Can Predict Delayed Hyponatremia after Pituitary Surgery in the Absence of Arginine Vasopressin Deficiency: Ho Kang, Seung Shin Park, Yoo Hyung Kim, Hwan Sub Lim, Mi-Kyeong Lee, Kyoung-Ryul Lee, Jung Hee Kim, Yong Hwy Kim; Endocrinol Metab. 2024;39(1):164-175. Published online January 3, 2024; DOI: https://doi.org/10.3803/EnM.2023.1792

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Background
Delayed postoperative hyponatremia (DPH) is the most common cause of readmission after pituitary surgery. In this study, we aimed to evaluate the cutoff values of serum copeptin and determine the optimal timing for copeptin measurement for the prediction of the occurrence of DPH in patients who undergo endoscopic transsphenoidal approach (eTSA) surgery and tumor resection.
Methods
This was a prospective observational study of 73 patients who underwent eTSA surgery for pituitary or stalk lesions. Copeptin levels were measured before surgery, 1 hour after extubation, and on postoperative days 1, 2, 7, and 90.
Results
Among 73 patients, 23 patients (31.5%) developed DPH. The baseline ratio of copeptin to serum sodium level showed the highest predictive performance (area under the curve [AUROC], 0.699), and its optimal cutoff to maximize Youden’s index was 2.5×10^–11, with a sensitivity of 91.3% and negative predictive value of 92.0%. No significant predictors were identified for patients with transient arginine vasopressin (AVP) deficiency. However, for patients without transient AVP deficiency, the copeptin-to-urine osmolarity ratio at baseline demonstrated the highest predictive performance (AUROC, 0.725). An optimal cutoff of 6.5×10^–12 maximized Youden’s index, with a sensitivity of 92.9% and a negative predictive value of 94.1%.
Conclusion
The occurrence of DPH can be predicted using baseline copeptin and its ratio with serum sodium or urine osmolarity only in patients without transient AVP deficiency after pituitary surgery.

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Impact Factors of Blood Copeptin Levels in Health and Disease States
Yutong Wang, Shirui Wang, Siyu Liang, Xinke Zhou, Xiaoyuan Guo, Bochuan Huang, Hui Pan, Huijuan Zhu, Shi Chen
Endocrine Practice.2024; 30(12): 1197. CrossRef

Adrenal gland
2023 Korean Endocrine Society Consensus Guidelines for the Diagnosis and Management of Primary Aldosteronism: Jeonghoon Ha, Jung Hwan Park, Kyoung Jin Kim, Jung Hee Kim, Kyong Yeun Jung, Jeongmin Lee, Jong Han Choi, Seung Hun Lee, Namki Hong, Jung Soo Lim, Byung Kwan Park, Jung-Han Kim, Kyeong Cheon Jung, Jooyoung Cho, Mi-kyung Kim, Choon Hee Chung, The Committee of Clinical Practice Guideline of Korean Endocrine Society, The Korean Adrenal Study Group of Korean Endocrine Society; Endocrinol Metab. 2023;38(6):597-618. Published online October 13, 2023; DOI: https://doi.org/10.3803/EnM.2023.1789

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Primary aldosteronism (PA) is a common, yet underdiagnosed cause of secondary hypertension. It is characterized by an overproduction of aldosterone, leading to hypertension and/or hypokalemia. Despite affecting between 5.9% and 34% of patients with hypertension, PA is frequently missed due to a lack of clinical awareness and systematic screening, which can result in significant cardiovascular complications. To address this, medical societies have developed clinical practice guidelines to improve the management of hypertension and PA. The Korean Endocrine Society, drawing on a wealth of research, has formulated new guidelines for PA. A task force has been established to prepare PA guidelines, which encompass epidemiology, pathophysiology, clinical presentation, diagnosis, treatment, and follow-up care. The Korean clinical guidelines for PA aim to deliver an evidence-based protocol for PA diagnosis, treatment, and patient monitoring. These guidelines are anticipated to ease the burden of this potentially curable condition.

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Differences in target organ damage between captopril challenge test-defined definitive-positive and borderline-range groups among patients with primary aldosteronism
Naoki Fujiwara, Tatsuya Haze, Hiromichi Wakui, Kouichi Tamura, Mika Tsuiki, Kohei Kamemura, Daisuke Taura, Takamasa Ichijo, Yutaka Takahashi, Minemori Watanabe, Hiroki Kobayashi, Toshifumi Nakamura, Shoichiro Izawa, Norio Wada, Tetsuya Yamada, Kenichi Yok
Hypertension Research.2025; 48(2): 540. CrossRef
Major Adverse Cardiovascular Events in Primary Aldosteronism After Adrenalectomy or Mineralocorticoid Receptor Antagonist Treatment: A Systematic Review and Meta‐Analysis
Chien‐Wei Huang, Tse‐Ying Huang, Ya‐Fei Yang, Li‐Yang Chang, Yu‐Kang Tu, Vin‐Cent Wu, Jui‐Yi Chen
Journal of the American Heart Association.2025;[Epub] CrossRef
Correlation of Histopathologic Subtypes of Primary Aldosteronism with Clinical Phenotypes and Postsurgical Outcomes
Chang Ho Ahn, You-Bin Lee, Jae Hyeon Kim, Young Lyun Oh, Jung Hee Kim, Kyeong Cheon Jung
The Journal of Clinical Endocrinology & Metabolism.2024; 109(8): e1582. CrossRef
Temporal trends in clinical features of patients with primary aldosteronism over 20 years
Seung Shin Park, Chang Ho Ahn, Sang Wan Kim, Jung-Min Koh, Seung Hun Lee, Jung Hee Kim
Hypertension Research.2024; 47(8): 2019. CrossRef
Primary aldosteronism: An underdiagnosed clinical entity
Peeyush Jain, Atul Kaushik, Nilashish Dey, Ashwani Mehta, Shaloo Kapoor, Chhavi Agrawal
Journal of Current Cardiology.2024; 2(2): 65. CrossRef
Historical changes in the clinical features of primary aldosteronism
Takamasa Ichijo
Hypertension Research.2024; 47(10): 2926. CrossRef
Comparing ARR Versus Suppressed PRA as Screening Tests for Primary Aldosteronism
Marco Marcelli, Caixia Bi, John W. Funder, Michael J. McPhaul
Hypertension.2024; 81(10): 2072. CrossRef
Screening and treatment of endocrine hypertension focusing on adrenal gland disorders: a narrative review
Seung Min Chung
Journal of Yeungnam Medical Science.2024; 41(4): 269. CrossRef
Diagnostic efficacy of aldosterone-to-renin ratio to screen primary aldosteronism in hypertension: a systemic review and meta-analysis
Ting-Wei Kao, Jui-Yi Chen, Jung-Hua Liu, Wen-Hsin Tseng, Chih-Chia Hsieh, Vin-Cent Wu, Yen-Hung Lin, Zheng-Wei Chen
Therapeutic Advances in Endocrinology and Metabolism.2024;[Epub] CrossRef
Comparative Analysis of Liquid Chromatography-Tandem Mass Spectrometry and Radioimmunoassay in Determining Plasma Aldosterone Concentration and Plasma Renin Activity for Primary Aldosteronism Screening
So Yoon Kwon, Kyeong-Jin Kim, Soo-Youn Lee, Jae Hyeon Kim
Endocrinology and Metabolism.2024; 39(6): 965. CrossRef

Adrenal Gland
Recent Updates on the Management of Adrenal Incidentalomas: Seung Shin Park, Jung Hee Kim; Endocrinol Metab. 2023;38(4):373-380. Published online August 16, 2023; DOI: https://doi.org/10.3803/EnM.2023.1779

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Adrenal incidentalomas represent an increasingly common clinical conundrum with significant implications for patients. The revised 2023 European Society of Endocrinology (ESE) guideline incorporates cutting-edge evidence for managing adrenal incidentalomas. This paper provides a concise review of the updated contents of the revised guideline. In the 2023 guideline, in patients without signs and symptoms of overt Cushing’s syndrome, a post-dexamethasone cortisol level above 50 nmol/L (>1.8 μg/dL) should be considered as mild autonomous cortisol secretion. Regarding the criteria of benign adrenal adenomas, a homogeneous adrenal mass with ≤10 Hounsfield units on non-contrast computed tomography requires no further follow-up, irrespective of its size. The updated guideline also discusses steroid metabolomics using tandem mass spectrometry to discriminate malignancy. It underscores the importance of high-volume surgeons performing adrenalectomy and emphasizes the pivotal role of a multidisciplinary team approach in deciding the treatment plan for indeterminate adrenal masses. The guideline advocates for more proactive surgical treatment for indeterminate adrenal masses in young patients (<40 years) and pregnant women. This review of the 2023 ESE guideline underscores the ongoing evolution of the adrenal incidentaloma management landscape, emphasizing the need for further research and adaptation of diagnostic and therapeutic strategies.

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Personalized Management of Malignant and Non-Malignant Ectopic Mediastinal Thyroid: A Proposed 10-Item Algorithm Approach
Mara Carsote, Mihai-Lucian Ciobica, Oana-Claudia Sima, Adrian Ciuche, Ovidiu Popa-Velea, Mihaela Stanciu, Florina Ligia Popa, Claudiu Nistor
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Temporal trends in clinical features of patients with primary aldosteronism over 20 years
Seung Shin Park, Chang Ho Ahn, Sang Wan Kim, Jung-Min Koh, Seung Hun Lee, Jung Hee Kim
Hypertension Research.2024; 47(8): 2019. CrossRef
Steroid Profiling in the Differential Diagnosis of Cushing's Syndrome and Diagnosis of MACS
A. Nankova, T. Kamenova, V. Vasilev, At. Elenkova, D. Svinarov, G. Kirilov, S. Zaharieva
Acta Medica Bulgarica.2024; 51(2): 1. CrossRef
Adrenal incidentalomas
Ivana Ságová
Vnitřní lékařství.2024; 70(5): E9. CrossRef
Ectopic Mediastinal Thyroid: A Crossroad Between a Multi-Layered Endocrine Perspective and a Contemporary Approach in Thoracic Surgery
Claudiu Nistor, Mihai-Lucian Ciobica, Oana-Claudia Sima, Anca-Pati Cucu, Florina Vasilescu, Lucian-George Eftimie, Dana Terzea, Mihai Costachescu, Adrian Ciuche, Mara Carsote
Life.2024; 14(11): 1374. CrossRef
Mature Adrenal Ganglioneuroma With Lipomatous Content: A Radiological and Histopathological Diagnostic Challenge
Mohammed Lameir Hussein, Shams O Alkhateeb, Jouhar J Kolleri, Ala' Saleem Abu-Dayeh, Khaled Murshed, Nabil Sherif Mahmood
Cureus.2024;[Epub] CrossRef
Comparative Analysis of Liquid Chromatography-Tandem Mass Spectrometry and Radioimmunoassay in Determining Plasma Aldosterone Concentration and Plasma Renin Activity for Primary Aldosteronism Screening
So Yoon Kwon, Kyeong-Jin Kim, Soo-Youn Lee, Jae Hyeon Kim
Endocrinology and Metabolism.2024; 39(6): 965. CrossRef

Diabetes, Obesity and Metabolism Big Data Articles (National Health Insurance Service Database)
Big Data Research in the Field of Endocrine Diseases Using the Korean National Health Information Database: Sun Wook Cho, Jung Hee Kim, Han Seok Choi, Hwa Young Ahn, Mee Kyoung Kim, Eun Jung Rhee; Endocrinol Metab. 2023;38(1):10-24. Published online February 9, 2023; DOI: https://doi.org/10.3803/EnM.2023.102

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The Korean National Health Information Database (NHID) contains big data combining information obtained from the National Health Insurance Service and health examinations. Data are provided in the form of a cohort, and the NHID can be used to conduct longitudinal studies and research on rare diseases. Moreover, data on the cause and date of death are provided by Statistics Korea. Research and publications based on the NHID have increased explosively in the field of endocrine disorders. However, because the data were not collected for research purposes, studies using the NHID have limitations, particularly the need for the operational definition of diseases. In this review, we describe the characteristics of the Korean NHID, operational definitions of endocrine diseases used for research, and an overview of recent studies in endocrinology using the Korean NHID.

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Different Associations between Lipid Levels and Risk for Heart Failure according to Diabetes Progression
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Association between glycaemic status and the risk of acromegaly: a nationwide population-based cohort study
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Associations Between Physical Activity and the Risk of Hip Fracture Depending on Glycemic Status: A Nationwide Cohort Study
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Weight change in patients with new‐onset type 2 diabetes mellitus and its association with remission: Comprehensive real‐world data
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Diabetes severity and the risk of depression: A nationwide population-based study
Yunjung Cho, Bongsung Kim, Hyuk-Sang Kwon, Kyungdo Han, Mee Kyoung Kim
Journal of Affective Disorders.2024; 351: 694. CrossRef
Information Bias Might Exaggerate Lung Cancer Risk of Patients With Rheumatoid Arthritis
Nobuyuki Horita, Kaoru Takase-Minegishi
Journal of Thoracic Oncology.2024; 19(2): 348. CrossRef
Diabetes Duration, Cholesterol Levels, and Risk of Cardiovascular Diseases in Individuals With Type 2 Diabetes
Mee Kyoung Kim, Kyu Na Lee, Kyungdo Han, Seung-Hwan Lee
The Journal of Clinical Endocrinology & Metabolism.2024; 109(12): e2317. CrossRef
Risk of fracture in patients with myasthenia gravis: a nationwide cohort study in Korea
Hye-Sun Park, Kyoungsu Kim, Min Heui Yu, Ha Young Shin, Yumie Rhee, Seung Woo Kim, Namki Hong
Journal of Bone and Mineral Research.2024; 39(6): 688. CrossRef
All-cause and cause-specific mortality risks in individuals with diabetes living alone: A large-scale population-based cohort study
Jae-Seung Yun, Kyungdo Han, Bongseong Kim, Seung-Hyun Ko, Hyuk-Sang Kwon, Yu-Bae Ahn, Yong-Moon Mark Park, Seung-Hwan Lee
Diabetes Research and Clinical Practice.2024; 217: 111876. CrossRef
Epidemiology and Trends of Obesity and Bariatric Surgery in Korea
Kyungdo Han, Jin-Hyung Jung, Su-Min Jeong, Mee Kyoung Kim
Endocrinology and Metabolism.2024; 39(5): 678. CrossRef
Income-Related Disparities in Mortality Among Young Adults With Type 2 Diabetes
Ji Yoon Kim, Sojeong Park, Minae Park, Nam Hoon Kim, Sin Gon Kim
JAMA Network Open.2024; 7(11): e2443918. CrossRef
Effect of COVID-19 Vaccination on Thyroid Disease in 7 Million Adult and 0.2 Million Adolescent Vaccine Recipients
Sungho Bea, Hwa Young Ahn, Jieun Woo, Ju-Young Shin, Sun Wook Cho
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Diabetes severity is strongly associated with the risk of active tuberculosis in people with type 2 diabetes: a nationwide cohort study with a 6-year follow-up
Ji Young Kang, Kyungdo Han, Seung-Hwan Lee, Mee Kyoung Kim
Respiratory Research.2023;[Epub] CrossRef
Research on obesity using the National Health Information Database: recent trends
Eun-Jung Rhee
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Jiwon Kim, Namki Hong, Jimi Choi, Ju Hyung Moon, Eui Hyun Kim, Eun Jig Lee, Sin Gon Kim, Cheol Ryong Ku
Endocrinology and Metabolism.2023; 38(6): 690. CrossRef

Adrenal Gland
A Novel Missense PRKAR1A Variant Causes Carney Complex: Boram Kim, Han Na Jang, Kyung Shil Chae, Ho Seop Shin, Yong Hwy Kim, Su Jin Kim, Moon-Woo Seong, Jung Hee Kim; Endocrinol Metab. 2022;37(5):810-815. Published online October 4, 2022; DOI: https://doi.org/10.3803/EnM.2022.1544

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The Carney complex (CNC) is an autosomal dominant disorder characterized by endocrine and nonendocrine tumors. Loss-of-function variants of protein kinase A regulatory subunit 1 alpha (PRKAR1A) are common causes of CNC. Here, we present the case of a patient with CNC with a novel PRKAR1A missense variant. A 21-year-old woman was diagnosed with CNC secondary to acromegaly and adrenal Cushing syndrome. Genetic analysis revealed a novel missense heterozygous variant of PRKAR1A (c.176A>T). Her relatives, suspected of having CNC, also carried the same variant. RNA analysis revealed that this variant led to nonsense-mediated mRNA decay. In vitro functional analysis of the variant confirmed its role in increasing protein kinase A activity and cyclic adenosine monophosphate levels. This study broadens our understanding of the genetic spectrum of CNC. We suggest that PRKAR1A genetic testing and counseling be recommended for patients with CNC and their families.

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Carney complex: A clinicopathologic study on a single family from several Canadian provinces
Alexandra Lao, Julio Silva, Brian Chiu, Consolato M. Sergi
Cardiovascular Pathology.2024; 69: 107599. CrossRef

Mineral, Bone & Muscle
Development of a Spine X-Ray-Based Fracture Prediction Model Using a Deep Learning Algorithm: Sung Hye Kong, Jae-Won Lee, Byeong Uk Bae, Jin Kyeong Sung, Kyu Hwan Jung, Jung Hee Kim, Chan Soo Shin; Endocrinol Metab. 2022;37(4):674-683. Published online August 5, 2022; DOI: https://doi.org/10.3803/EnM.2022.1461

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Background
Since image-based fracture prediction models using deep learning are lacking, we aimed to develop an X-ray-based fracture prediction model using deep learning with longitudinal data.
Methods
This study included 1,595 participants aged 50 to 75 years with at least two lumbosacral radiographs without baseline fractures from 2010 to 2015 at Seoul National University Hospital. Positive and negative cases were defined according to whether vertebral fractures developed during follow-up. The cases were divided into training (n=1,416) and test (n=179) sets. A convolutional neural network (CNN)-based prediction algorithm, DeepSurv, was trained with images and baseline clinical information (age, sex, body mass index, glucocorticoid use, and secondary osteoporosis). The concordance index (C-index) was used to compare performance between DeepSurv and the Fracture Risk Assessment Tool (FRAX) and Cox proportional hazard (CoxPH) models.
Results
Of the total participants, 1,188 (74.4%) were women, and the mean age was 60.5 years. During a mean follow-up period of 40.7 months, vertebral fractures occurred in 7.5% (120/1,595) of participants. In the test set, when DeepSurv learned with images and clinical features, it showed higher performance than FRAX and CoxPH in terms of C-index values (DeepSurv, 0.612; 95% confidence interval [CI], 0.571 to 0.653; FRAX, 0.547; CoxPH, 0.594; 95% CI, 0.552 to 0.555). Notably, the DeepSurv method without clinical features had a higher C-index (0.614; 95% CI, 0.572 to 0.656) than that of FRAX in women.
Conclusion
DeepSurv, a CNN-based prediction algorithm using baseline image and clinical information, outperformed the FRAX and CoxPH models in predicting osteoporotic fracture from spine radiographs in a longitudinal cohort.

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Mir Sadat-Ali, Bandar A Alzahrani, Turki S Alqahtani, Musaad A Alotaibi, Abdallah M Alhalafi, Ahmed A Alsousi, Abdullah M Alasiri
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Li-Wei Cheng, Hsin-Hung Chou, Yu-Xuan Cai, Kuo-Yuan Huang, Chin-Chiang Hsieh, Po-Lun Chu, I-Szu Cheng, Sun-Yuan Hsieh
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Baisen Chen, Jiaming Cui, Chaochen Li, Pengjun Xu, Guanhua Xu, Jiawei Jiang, Pengfei Xue, Yuyu Sun, Zhiming Cui
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Min Wook Joo, Taehoon Ko, Min Seob Kim, Yong-Suk Lee, Seung Han Shin, Yang-Guk Chung, Hong Kwon Lee
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Adrenal Gland
Outcome-Based Decision-Making Algorithm for Treating Patients with Primary Aldosteronism: Jung Hee Kim, Chang Ho Ahn, Su Jin Kim, Kyu Eun Lee, Jong Woo Kim, Hyun-Ki Yoon, Yu-Mi Lee, Tae-Yon Sung, Sang Wan Kim, Chan Soo Shin, Jung-Min Koh, Seung Hun Lee; Endocrinol Metab. 2022;37(2):369-382. Published online April 14, 2022; DOI: https://doi.org/10.3803/EnM.2022.1391

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Background
Optimal management of primary aldosteronism (PA) is crucial due to the increased risk of cardiovascular and cerebrovascular diseases. Adrenal venous sampling (AVS) is the gold standard method for determining subtype but is technically challenging and invasive. Some PA patients do not benefit clinically from surgery. We sought to develop an algorithm to improve decision- making before engaging in AVS and surgery in clinical practice.
Methods
We conducted the ongoing Korean Primary Aldosteronism Study at two tertiary centers. Study A involved PA patients with successful catheterization and a unilateral nodule on computed tomography and aimed to predict unilateral aldosterone-producing adenoma (n=367). Study B involved similar patients who underwent adrenalectomy and aimed to predict postoperative outcome (n=330). In study A, we implemented important feature selection using the least absolute shrinkage and selection operator regression.
Results
We developed a unilateral PA prediction model using logistic regression analysis: lowest serum potassium level ≤3.4 mEq/L, aldosterone-to-renin ratio ≥150, plasma aldosterone concentration ≥30 ng/mL, and body mass index <25 kg/m2 (area under the curve, 0.819; 95% confidence interval, 0.774 to 0.865; sensitivity, 97.6%; specificity, 25.5%). In study B, we identified female, hypertension duration <5 years, anti-hypertension medication <2.5 daily defined dose, and the absence of coronary artery disease as predictors of clinical success, using stepwise logistic regression models (sensitivity, 94.2%; specificity, 49.3%). We validated our algorithm in the independent validation dataset (n=53).
Conclusion
We propose this new outcome-driven diagnostic algorithm, simultaneously considering unilateral aldosterone excess and clinical surgical benefits in PA patients.

Citations

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Outcomes after medical treatment for primary aldosteronism: an international consensus and analysis of treatment response in an international cohort
Jun Yang, Jacopo Burrello, Jessica Goi, Martin Reincke, Christian Adolf, Evelyn Asbach, Denise Brűdgam, Qifu Li, Ying Song, Jinbo Hu, Shumin Yang, Fumitoshi Satoh, Yoshikiyo Ono, Renata Libianto, Michael Stowasser, Nanfang Li, Qing Zhu, Namki Hong, Drishy
The Lancet Diabetes & Endocrinology.2025; 13(2): 119. CrossRef
Subtype-specific Body Composition and Metabolic Risk in Patients With Primary Aldosteronism
Seung Shin Park, Chang Ho Ahn, Sang Wan Kim, Ji Won Yoon, Jung Hee Kim
The Journal of Clinical Endocrinology & Metabolism.2024; 109(2): e788. CrossRef
Correlation of Histopathologic Subtypes of Primary Aldosteronism with Clinical Phenotypes and Postsurgical Outcomes
Chang Ho Ahn, You-Bin Lee, Jae Hyeon Kim, Young Lyun Oh, Jung Hee Kim, Kyeong Cheon Jung
The Journal of Clinical Endocrinology & Metabolism.2024; 109(8): e1582. CrossRef
Predicting the resolution of hypertension following adrenalectomy in primary aldosteronism: Controversies and unresolved issues a narrative review
Luigi Marzano
Langenbeck's Archives of Surgery.2024;[Epub] CrossRef
Prognostic models to predict complete resolution of hypertension after adrenalectomy in primary aldosteronism: A systematic review and meta‐analysis
Luigi Marzano, Amir Kazory, Faeq Husain‐Syed, Claudio Ronco
Clinical Endocrinology.2023; 99(1): 17. CrossRef
2023 Korean Endocrine Society Consensus Guidelines for the Diagnosis and Management of Primary Aldosteronism
Jeonghoon Ha, Jung Hwan Park, Kyoung Jin Kim, Jung Hee Kim, Kyong Yeun Jung, Jeongmin Lee, Jong Han Choi, Seung Hun Lee, Namki Hong, Jung Soo Lim, Byung Kwan Park, Jung-Han Kim, Kyeong Cheon Jung, Jooyoung Cho, Mi-kyung Kim, Choon Hee Chung
Endocrinology and Metabolism.2023; 38(6): 597. CrossRef

Mineral, Bone & Muscle
Effect of Vitamin D Supplementation on Risk of Fractures and Falls According to Dosage and Interval: A Meta-Analysis: Sung Hye Kong, Han Na Jang, Jung Hee Kim, Sang Wan Kim, Chan Soo Shin; Endocrinol Metab. 2022;37(2):344-358. Published online April 25, 2022; DOI: https://doi.org/10.3803/EnM.2021.1374

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Background
Although recent studies comparing various dosages and intervals of vitamin D supplementation have been published, it is yet to be elucidated whether there is an appropriate dose or interval to provide benefit regarding fracture risk. We aimed to assess the published evidence available to date regarding the putative beneficial effects of vitamin D supplements on fractures and falls according to various dosages and intervals.
Methods
We performed a meta-analysis of randomized controlled studies reporting associations between vitamin D supplementation and the risks of fractures and falls in PubMed, EMBASE, and Cochrane library. Studies with supplements of ergocalciferol or calcitriol, those with a number of event ≤10, or those with a follow-up duration of less than 6 months were also excluded.
Results
Thirty-two studies were included in the final analysis. Vitamin D supplementation with daily dose of 800 to 1,000 mg was associated with lower risks of osteoporotic fracture and fall (pooled relative risk [RR], 0.87; 95% confidence interval [CI], 0.78 to 0.97 and RR, 0.91; 95% CI, 0.85 to 0.98), while studies with <800 or >1,000 mg/day did not. Also, among intervals, daily administration of vitamin D was associated with the reduced risk of falls, while intermittent dose was not. Also, patients with vitamin D deficiency showed a significant risk reduction of falls after vitamin D supplementation.
Conclusion
Daily vitamin D dose of 800 to 1,000 IU was the most probable way to reduce the fracture and fall risk. Further studies designed with various regimens and targeted vitamin D levels are required to elucidate the benefits of vitamin D supplements.

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Ukrainian Consensus on Diagnosis and Management of Vitamin D Deficiency in Adults
Nataliia Grygorieva, Mykola Tronko, Volodymir Kovalenko, Serhiy Komisarenko, Tetiana Tatarchuk, Ninel Dedukh, Mykola Veliky, Serhiy Strafun, Yulia Komisarenko, Andrii Kalashnikov, Valeria Orlenko, Volodymyr Pankiv, Oleg Shvets, Inna Gogunska, Svitlana Reg
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Vitamin D Supplementation: A Review of the Evidence Arguing for a Daily Dose of 2000 International Units (50 µg) of Vitamin D for Adults in the General Population
Pawel Pludowski, William B. Grant, Spyridon N. Karras, Armin Zittermann, Stefan Pilz
Nutrients.2024; 16(3): 391. CrossRef
Clinical Characteristics and Outcomes of Limb Fractures in Saudi Children
Lamia Aldhbiban, Fai Alhoshan, Raghad Alomari, Shahad A Almatrafi, Yousef Alanazi, Samir Alsayegh, Haifa Y Alfaraidi, Ayman H Jawadi, Fahad N Aljuraibah
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Michael Booth, Kenneth Sabacinski, Colleen Watkins, Erin Butcho, Emilie Kramer, Lukas Meadows, Michelle A. Bramer
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Association of vitamin and/or nutritional supplements with fall among patients with diabetes: A prospective study based on ACCORD and UK Biobank
Lingfang He, Tianqi Ma, Guogang Zhang, Xunjie Cheng, Yongping Bai
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Vitamin D and Calcium in Osteoporosis, and the Role of Bone Turnover Markers: A Narrative Review of Recent Data from RCTs
Gavriela Voulgaridou, Sousana K. Papadopoulou, Paraskevi Detopoulou, Despoina Tsoumana, Constantinos Giaginis, Foivi S. Kondyli, Evgenia Lymperaki, Agathi Pritsa
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Yaohui Yu, Yudan Wang, Xiaoli Hou, Faming Tian
Frontiers in Public Health.2023;[Epub] CrossRef
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Safety Profile of Vitamin D in Italy: An Analysis of Spontaneous Reports of Adverse Reactions Related to Drugs and Food Supplements
Valentina Maggini, Giada Crescioli, Ilaria Ippoliti, Eugenia Gallo, Francesca Menniti-Ippolito, Adelaide Chiaravalloti, Vittorio Mascherini, Roberto Da Cas, Simona Potenza, Giulia Gritti, Maria Galiulo, Laura Sottosanti, Alfredo Vannacci, Niccolò Lombardi
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Cholecalciferol Use Is Associated With a Decreased Risk of Incident Morphometric Vertebral Fractures in Acromegaly
Sabrina Chiloiro, Stefano Frara, Irene Gagliardi, Antonio Bianchi, Antonella Giampietro, Margherita Medici, Agnese Allora, Luigi di Filippo, Maria Rosaria Ambrosio, Alfredo Pontecorvi, Maria Chiara Zatelli, Laura De Marinis, Andrea Giustina
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E. Michael Lewiecki, Teresita Bellido, John P. Bilezikian, Jacques P. Brown, Azeez Farooki, Christopher S. Kovacs, Brendan Lee, William D. Leslie, Michael R. McClung, Mark L. Prasarn, Deborah E. Sellmeyer
Journal of Clinical Densitometry.2023; 26(4): 101432. CrossRef
Diagnosis, prevention and treatment of vitamin D deficiency in adults: Ukrainian experts consensus statement
N.V. Grygorieva, M.D. Tronko, V.M. Kovalenko, S.V. Komisarenko, T.F. Tatarchuk, N.V. Dedukh, M.M. Veliky, S.S. Strafun, Y.I. Komisarenko, A.V. Kalashnikov, V.L. Orlenko, V.I. Pankiv, O.V. Shvets, I.V. Gogunska, S.I. Regeda
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Serum 25-Hydroxyvitamin D Level Is Negatively Associated with Fatigue in Elderly Maintenance Hemodialysis Patients
Menglin Pang, Lin Chen, Na Jiang, Mengmeng Jiang, Baofeng Wang, Lili Wang, Xiao-yan Jia
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Vitamin D for Clinical Diseases in Women: An Indispensable Factor in Medicine and Dentistry
Dario Calafiore, Leonzio Fortunato, Mario Migliario
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Malnutrition in Older Adults—Effect on Falls and Fractures: A Narrative Review
Malgorzata Kupisz-Urbanska, Ewa Marcinowska-Suchowierska
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Role of vitamin D supplementation in the management of musculoskeletal diseases: update from an European Society of Clinical and Economical Aspects of Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (ESCEO) working group
Thierry Chevalley, Maria Luisa Brandi, Kevin D. Cashman, Etienne Cavalier, Nicholas C. Harvey, Stefania Maggi, Cyrus Cooper, Nasser Al-Daghri, Oliver Bock, Olivier Bruyère, Mario Miguel Rosa, Bernard Cortet, Alfonso J. Cruz-Jentoft, Antonio Cherubini, Bes
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Adrenal Gland
Adrenal Morphology as an Indicator of Long-Term Disease Control in Adults with Classic 21-Hydroxylase Deficiency: Taek Min Kim, Jung Hee Kim, Han Na Jang, Man Ho Choi, Jeong Yeon Cho, Sang Youn Kim; Endocrinol Metab. 2022;37(1):124-137. Published online February 8, 2022; DOI: https://doi.org/10.3803/EnM.2021.1278

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Background
Monitoring adults with classical 21-hydroxylase deficiency (21OHD) is challenging due to variation in clinical and laboratory settings. Moreover, guidelines for adrenal imaging in 21OHD are not yet available. We evaluated the relationship between adrenal morphology and disease control status in classical 21OHD.
Methods
This retrospective, cross-sectional study included 90 adult 21OHD patients and 270 age- and sex-matched healthy controls. We assessed adrenal volume, width, and tumor presence using abdominal computed tomography and evaluated correlations of adrenal volume and width with hormonal status. We investigated the diagnostic performance of adrenal volume and width for identifying well-controlled status in 21OHD patients (17α-hydroxyprogesterone [17-OHP] <10 ng/mL).
Results
The adrenal morphology of 21OHD patients showed hypertrophy (45.6%), normal size (42.2%), and hypotrophy (12.2%). Adrenal tumors were detected in 12 patients (13.3%). The adrenal volume and width of 21OHD patients were significantly larger than those of controls (18.2±12.2 mL vs. 7.1±2.0 mL, 4.7±1.9 mm vs. 3.3±0.5 mm, P<0.001 for both). The 17-OHP and androstenedione levels were highest in patients with adrenal hypertrophy, followed by those with normal adrenal glands and adrenal hypotrophy (P<0.05 for both). Adrenal volume and width correlated positively with adrenocorticotropic hormone, 17-OHP, 11β-hydroxytestosterone, progesterone sulfate, and dehydroepiandrosterone sulfate in both sexes (r=0.33–0.95, P<0.05 for all). For identifying well-controlled patients, the optimal cut-off values of adrenal volume and width were 10.7 mL and 4 mm, respectively (area under the curve, 0.82–0.88; P<0.001 for both).
Conclusion
Adrenal volume and width may be reliable quantitative parameters for monitoring patients with classical 21OHD.

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Long‐term health consequences of congenital adrenal hyperplasia
Riccardo Pofi, Xiaochen Ji, Nils P. Krone, Jeremy W. Tomlinson
Clinical Endocrinology.2024; 101(4): 318. CrossRef
Landscape of Adrenal Tumours in Patients with Congenital Adrenal Hyperplasia
Mara Carsote, Ana-Maria Gheorghe, Claudiu Nistor, Alexandra-Ioana Trandafir, Oana-Claudia Sima, Anca-Pati Cucu, Adrian Ciuche, Eugenia Petrova, Adina Ghemigian
Biomedicines.2023; 11(11): 3081. CrossRef
Multiplexed Serum Steroid Profiling Reveals Metabolic Signatures of Subtypes in Congenital Adrenal Hyperplasia
Jaeyoon Shim, Chang Ho Ahn, Seung Shin Park, Jongsung Noh, Chaelin Lee, Sang Won Lee, Jung Hee Kim, Man Ho Choi
Journal of the Endocrine Society.2023;[Epub] CrossRef
Long-Term Outcomes of Congenital Adrenal Hyperplasia
Anna Nordenström, Svetlana Lajic, Henrik Falhammar
Endocrinology and Metabolism.2022; 37(4): 587. CrossRef
Congenital adrenal hyperplasia in patients with adrenal tumors: a population-based case–control study
F. Sahlander, J. Patrova, B. Mannheimer, J. D. Lindh, H. Falhammar
Journal of Endocrinological Investigation.2022; 46(3): 559. CrossRef
Fully automatic volume measurement of the adrenal gland on CT using deep learning to classify adrenal hyperplasia
Taek Min Kim, Seung Jae Choi, Ji Yeon Ko, Sungwan Kim, Chang Wook Jeong, Jeong Yeon Cho, Sang Youn Kim, Young-Gon Kim
European Radiology.2022; 33(6): 4292. CrossRef

Adrenal Gland Big Data Articles (National Health Insurance Service Database)
Epidemiology and Long-Term Adverse Outcomes in Korean Patients with Congenital Adrenal Hyperplasia: A Nationwide Study: Jung Hee Kim, Sunkyu Choi, Young Ah Lee, Juneyoung Lee, Sin Gon Kim; Endocrinol Metab. 2022;37(1):138-147. Published online February 28, 2022; DOI: https://doi.org/10.3803/EnM.2021.1328

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Background
Previous studies on the epidemiology and complications of congenital adrenal hyperplasia (CAH) were conducted in Western countries and in children/adolescents. We aimed to explore the epidemiology of CAH, as well as the risk of comorbidities and mortality, in a Korean nationwide case-control study.
Methods
CAH patients (n=2,840) were included between 2002 and 2017 from the National Health Insurance Service database and the Rare Intractable Disease program. CAH patients were compared, at a 1:10 ratio, with age-, sex-, and index year-matched controls (n=28,400).
Results
The point prevalence of CAH patients in Korea was 1 in 18,745 persons in 2017. The annual incidence rate declined between 2003 and 2017 from 3.25 to 0.41 per 100,000 persons. CAH patients were at elevated risk for cardiovascular disease (odds ratio [OR], 1.6; 95% confidence interval [CI], 1.4 to 1.9), stroke (OR, 1.7; 95% CI, 1.3 to 2.0), diabetes mellitus (OR, 2.8; 95% CI, 2.6 to 3.1), dyslipidemia (OR, 2.4; 95% CI, 2.2 to 2.6), and psychiatric disorders (OR, 1.5; 95% CI, 1.3 to 1.6). Fracture risk increased in CAH patients aged over 40 years (OR, 1.4; 95% CI, 1.1 to 1.7). CAH patients were at higher risk of mortality than controls (hazard ratio, 1.6; 95% CI, 1.3 to 2.0).
Conclusion
Our nationwide study showed a recent decline in the incidence of CAH and an elevated risk for cardiovascular, metabolic, skeletal, and psychiatric disorders in CAH patients. Lifelong management for comorbidity risk is a crucial component of treating CAH patients.

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Cardiometabolic Aspects of Congenital Adrenal Hyperplasia
Robert Krysiak, Hedi L Claahsen-van der Grinten, Nicole Reisch, Philippe Touraine, Henrik Falhammar
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Glucocorticoid therapy in classic congenital adrenal hyperplasia: traditional and new treatment paradigms
Irina Bancos, Hyunwoo Kim, Henry K. Cheng, Mariam Rodriguez-Lee, Helen Coope, Samantha Cicero, Hannah Goldsmith, Vivian H. Lin, George S. Jeha
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Clinical Manifestations and Challenges in Adolescent and Adult Females With Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
Hedvig Engberg, Anna Nordenström, Angelica Lindén Hirschberg
The Journal of Clinical Endocrinology & Metabolism.2025; 110(Supplement): S37. CrossRef
Metabolic Syndrome Spectrum in Children with Classic Congenital Adrenal Hyperplasia—A Comprehensive Review
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Metabolites.2025; 15(2): 89. CrossRef
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Riccardo Pofi, Xiaochen Ji, Nils P. Krone, Jeremy W. Tomlinson
Clinical Endocrinology.2024; 101(4): 318. CrossRef
Hyperandrogenism and Cardiometabolic Risk in Pre- and Postmenopausal Women—What Is the Evidence?
Angelica Lindén Hirschberg
The Journal of Clinical Endocrinology & Metabolism.2024; 109(5): 1202. CrossRef
Predictors of Cardiovascular Morbidities in Adults With 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia
Suranut Charoensri, Richard J Auchus
The Journal of Clinical Endocrinology & Metabolism.2024; 109(3): e1133. CrossRef
Case report: Development of central precocious puberty in a girl with late-diagnosed simple virilizing congenital adrenal hyperplasia complicated with Williams syndrome
Eun Young Joo, Myung Ji Yoo, Su Jin Kim, Woori Jang, Ji-Eun Lee
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Proof of concept for a superior therapeutic index of corticosterone compared with hydrocortisone in patients with congenital adrenal hyperplasia
Catriona J Kyle, Luke D Boyle, Mark Nixon, Natalie Z M Homer, Joanna P Simpson, Alison Rutter, Lynne E Ramage, Alexandra Kelman, Ellen Marie Freel, Ruth Andrew, Brian R Walker, Roland H Stimson
European Journal of Endocrinology.2024; 191(6): 535. CrossRef
Prevalence of Psychiatric Comorbidities in Females With Classic Congenital Adrenal Hyperplasia
Behzad Sorouri Khorashad, Oumaima Kaabi, Melissa D Gardner, Darios Getahun, Michael Goodman, Timothy L Lash, Peter A Lee, Joshua May, Courtney McCracken, Maria Muzik, Suma Vupputuri, Rami Yacoub, David E Sandberg
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Endocrinology and Metabolism.2023; 38(1): 10. CrossRef
Long-term cardiometabolic morbidity in young adults with classic 21-hydroxylase deficiency congenital adrenal hyperplasia
Beatrice Righi, Salma R. Ali, Jillian Bryce, Jeremy W. Tomlinson, Walter Bonfig, Federico Baronio, Eduardo C. Costa, Guilherme Guaragna-Filho, Guy T’Sjoen, Martine Cools, Renata Markosyan, Tania A. S. S. Bachega, Mirela C. Miranda, Violeta Iotova, Henrik
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Serum steroid profile captures metabolic phenotypes in adults with classic congenital adrenal hyperplasia
Chang Ho Ahn, Jaeyoon Shim, Han Na Jang, Young Ah Lee, Sang-Won Lee, Man Ho Choi, Jung Hee Kim
The Journal of Steroid Biochemistry and Molecular Biology.2023; 234: 106374. CrossRef
Multiplexed Serum Steroid Profiling Reveals Metabolic Signatures of Subtypes in Congenital Adrenal Hyperplasia
Jaeyoon Shim, Chang Ho Ahn, Seung Shin Park, Jongsung Noh, Chaelin Lee, Sang Won Lee, Jung Hee Kim, Man Ho Choi
Journal of the Endocrine Society.2023;[Epub] CrossRef
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Miscellaneous
Corrigendum: Correction of Acknowledgments. Transformation of Mature Osteoblasts into Bone Lining Cells and RNA Sequencing-Based Transcriptome Profiling of Mouse Bone during Mechanical Unloading: A Ram Hong, Kwangsoo Kim, Ji Yeon Lee, Jae-Yeon Yang, Jung Hee Kim, Chan Soo Shin, Sang Wan Kim; Endocrinol Metab. 2021;36(6):1314. Published online November 18, 2021; DOI: https://doi.org/10.3803/EnM.2021.601; Corrects: Endocrinol Metab 2020;35(2):456

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Adrenal Gland
Clinical and Molecular Characteristics of PRKACA L206R Mutant Cortisol-Producing Adenomas in Korean Patients: Insoon Jang, Su-jin Kim, Ra-Young Song, Kwangsoo Kim, Seongmin Choi, Jang-Seok Lee, Min-Kyeong Gwon, Moon Woo Seong, Kyu Eun Lee, Jung Hee Kim; Endocrinol Metab. 2021;36(6):1287-1297. Published online December 2, 2021; DOI: https://doi.org/10.3803/EnM.2021.1217

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Abstract PDF Supplementary Material PubReader ePub: Background
An activating mutation (c.617A>C/p.Lys206Arg, L206R) in protein kinase cAMP-activated catalytic subunit alpha (PRKACA) has been reported in 35% to 65% of cases of cortisol-producing adenomas (CPAs). We aimed to compare the clinical characteristics and transcriptome analysis between PRKACA L206R mutants and wild-type CPAs in Korea.
Methods
We included 57 subjects with CPAs who underwent adrenalectomy at Seoul National University Hospital. Sanger sequencing for PRKACA was conducted in 57 CPA tumor tissues. RNA sequencing was performed in 13 fresh-frozen tumor tissues.
Results
The prevalence of the PRKACA L206R mutation was 51% (29/57). The mean age of the study subjects was 42±12 years, and 87.7% (50/57) of the patients were female. Subjects with PRKACA L206R mutant CPAs showed smaller adenoma size (3.3±0.7 cm vs. 3.8±1.2 cm, P=0.059) and lower dehydroepiandrosterone sulfate levels (218±180 ng/mL vs. 1,511±3,307 ng/mL, P=0.001) than those with PRKACA wild-type CPAs. Transcriptome profiling identified 244 differentially expressed genes (DEGs) between PRKACA L206R mutant (n=8) and wild-type CPAs (n=5), including five upregulated and 239 downregulated genes in PRKACA L206R mutant CPAs (|fold change| ≥2, P<0.05). Among the upstream regulators of DEGs, CTNNB1 was the most significant transcription regulator. In several pathway analyses, the Wnt signaling pathway was downregulated and the steroid biosynthesis pathway was upregulated in PRKACA mutants. Protein-protein interaction analysis also showed that PRKACA downregulates Wnt signaling and upregulates steroid biosynthesis.
Conclusion
The PRKACA L206R mutation in CPAs causes high hormonal activity with a limited proliferative capacity, as supported by transcriptome profiling.

Adrenal Gland
Metabolic Subtyping of Adrenal Tumors: Prospective Multi-Center Cohort Study in Korea: Eu Jeong Ku, Chaelin Lee, Jaeyoon Shim, Sihoon Lee, Kyoung-Ah Kim, Sang Wan Kim, Yumie Rhee, Hyo-Jeong Kim, Jung Soo Lim, Choon Hee Chung, Sung Wan Chun, Soon-Jib Yoo, Ohk-Hyun Ryu, Ho Chan Cho, A Ram Hong, Chang Ho Ahn, Jung Hee Kim, Man Ho Choi; Endocrinol Metab. 2021;36(5):1131-1141. Published online October 21, 2021; DOI: https://doi.org/10.3803/EnM.2021.1149

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Background
Conventional diagnostic approaches for adrenal tumors require multi-step processes, including imaging studies and dynamic hormone tests. Therefore, this study aimed to discriminate adrenal tumors from a single blood sample based on the combination of liquid chromatography-mass spectrometry (LC-MS) and machine learning algorithms in serum profiling of adrenal steroids.
Methods
The LC-MS-based steroid profiling was applied to serum samples obtained from patients with nonfunctioning adenoma (NFA, n=73), Cushing’s syndrome (CS, n=30), and primary aldosteronism (PA, n=40) in a prospective multicenter study of adrenal disease. The decision tree (DT), random forest (RF), and extreme gradient boost (XGBoost) were performed to categorize the subtypes of adrenal tumors.
Results
The CS group showed higher serum levels of 11-deoxycortisol than the NFA group, and increased levels of tetrahydrocortisone (THE), 20α-dihydrocortisol, and 6β-hydroxycortisol were found in the PA group. However, the CS group showed lower levels of dehydroepiandrosterone (DHEA) and its sulfate derivative (DHEA-S) than both the NFA and PA groups. Patients with PA expressed higher serum 18-hydroxycortisol and DHEA but lower THE than NFA patients. The balanced accuracies of DT, RF, and XGBoost for classifying each type were 78%, 96%, and 97%, respectively. In receiver operating characteristics (ROC) analysis for CS, XGBoost, and RF showed a significantly greater diagnostic power than the DT. However, in ROC analysis for PA, only RF exhibited better diagnostic performance than DT.
Conclusion
The combination of LC-MS-based steroid profiling with machine learning algorithms could be a promising one-step diagnostic approach for the classification of adrenal tumor subtypes.

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Treating Primary Aldosteronism-Induced Hypertension: Novel Approaches and Future Outlooks
Nathan Mullen, James Curneen, Padraig T Donlon, Punit Prakash, Irina Bancos, Mark Gurnell, Michael C Dennedy
Endocrine Reviews.2024; 45(1): 125. CrossRef
Steroid profiling in adrenal disease
Danni Mu, Dandan Sun, Xia Qian, Xiaoli Ma, Ling Qiu, Xinqi Cheng, Songlin Yu
Clinica Chimica Acta.2024; 553: 117749. CrossRef
Plasma Steroid Profiling Combined With Machine Learning for the Differential Diagnosis in Mild Autonomous Cortisol Secretion From Nonfunctioning Adenoma in Patients With Adrenal Incidentalomas
Danni Mu, Xia Qian, Yichen Ma, Xi Wang, Yumeng Gao, Xiaoli Ma, Shaowei Xie, Lian Hou, Qi Zhang, Fang Zhao, Liangyu Xia, Liling Lin, Ling Qiu, Jie Wu, Songlin Yu, Xinqi Cheng
Endocrine Practice.2024; 30(7): 647. CrossRef
Mild autonomous cortisol secretion: pathophysiology, comorbidities and management approaches
Alessandro Prete, Irina Bancos
Nature Reviews Endocrinology.2024; 20(8): 460. CrossRef
Plasma Steroid Profiling Between Patients With and Without Diabetes Mellitus in Nonfunctioning Adrenal Incidentalomas
Yui Nakano, Maki Yokomoto-Umakoshi, Kohta Nakatani, Hironobu Umakoshi, Hiroshi Nakao, Masamichi Fujita, Hiroki Kaneko, Norifusa Iwahashi, Tatsuki Ogasawara, Tazuru Fukumoto, Yayoi Matsuda, Ryuichi Sakamoto, Yoshihiro Izumi, Takeshi Bamba, Yoshihiro Ogawa
Journal of the Endocrine Society.2024;[Epub] CrossRef
Peak-Based Machine Learning for Plastic Type Classification in Time-of-Flight Secondary Ion Mass Spectrometry
Jin Gyeong Son, Hyun Kyong Shon, Ji-Eun Kim, In−Ho Lee, Tae Geol Lee
Journal of the American Society for Mass Spectrometry.2024; 35(12): 3107. CrossRef
Serum and hair steroid profiles in patients with nonfunctioning pituitary adenoma undergoing surgery: A prospective observational study
Seung Shin Park, Yong Hwy Kim, Ho Kang, Chang Ho Ahn, Dong Jun Byun, Man Ho Choi, Jung Hee Kim
The Journal of Steroid Biochemistry and Molecular Biology.2023; 230: 106276. CrossRef
Recent Updates on the Management of Adrenal Incidentalomas
Seung Shin Park, Jung Hee Kim
Endocrinology and Metabolism.2023; 38(4): 373. CrossRef
LC-MS based simultaneous profiling of adrenal hormones of steroids, catecholamines, and metanephrines
Jongsung Noh, Chaelin Lee, Jung Hee Kim, Seung Woon Myung, Man Ho Choi
Journal of Lipid Research.2023; 64(11): 100453. CrossRef
2023 Korean Endocrine Society Consensus Guidelines for the Diagnosis and Management of Primary Aldosteronism
Jeonghoon Ha, Jung Hwan Park, Kyoung Jin Kim, Jung Hee Kim, Kyong Yeun Jung, Jeongmin Lee, Jong Han Choi, Seung Hun Lee, Namki Hong, Jung Soo Lim, Byung Kwan Park, Jung-Han Kim, Kyeong Cheon Jung, Jooyoung Cho, Mi-kyung Kim, Choon Hee Chung
Endocrinology and Metabolism.2023; 38(6): 597. CrossRef
Toward Systems-Level Metabolic Analysis in Endocrine Disorders and Cancer
Aliya Lakhani, Da Hyun Kang, Yea Eun Kang, Junyoung O. Park
Endocrinology and Metabolism.2023; 38(6): 619. CrossRef
Prevalence and Characteristics of Adrenal Tumors in an Unselected Screening Population
Ying Jing, Jinbo Hu, Rong Luo, Yun Mao, Zhixiao Luo, Mingjun Zhang, Jun Yang, Ying Song, Zhengping Feng, Zhihong Wang, Qingfeng Cheng, Linqiang Ma, Yi Yang, Li Zhong, Zhipeng Du, Yue Wang, Ting Luo, Wenwen He, Yue Sun, Fajin Lv, Qifu Li, Shumin Yang
Annals of Internal Medicine.2022; 175(10): 1383. CrossRef

Adrenal Gland
Lipid Profiles in Primary Aldosteronism Compared with Essential Hypertension: Propensity-Score Matching Study: Sun Joon Moon, Han Na Jang, Jung Hee Kim, Min Kyong Moon; Endocrinol Metab. 2021;36(4):885-894. Published online August 10, 2021; DOI: https://doi.org/10.3803/EnM.2021.1012

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Background
There has been controversy regarding the association between primary aldosteronism (PA) and dyslipidemia and few studies considered the effects of diabetes and renal function on lipid metabolism. We analyzed lipid profiles of PA patients and compared them to propensity-score (PS)-matched essential hypertension (EH) patients adjusting for glycemic status and renal function.
Methods
Patients who were diagnosed with PA using a saline-infusion test at Seoul National University Hospital from 2000 to 2018 were retrospectively analyzed. EH patients who had aldosterone-renin ratio (ARR) results were selected as controls. Covariates, including diabetes, were PS-matched for patients with PA, lateralized PA, non-lateralized PA, and high ARR to EH patients, respectively.
Results
Among a total of 80 PA and 80 EH patients, total cholesterol (TC) and triglyceride (TG) levels were significantly lower in the PA patients than in the EH patients (least-squares mean±standard error: 185.5±4.4 mg/dL vs. 196.2±4.4 mg/dL, P=0.047, for TC; and 132.3±11.5 mg/dL vs. 157.4±11.4 mg/dL, P=0.035, for TG) in fully adjusted model (adjusting for multiple covariates, including diabetes status, glycosylated hemoglobin level, and estimated glomerular filtration rate). There were no significant differences in high-density lipoprotein cholesterol (HDL-C) and low-density lipoprotein cholesterol levels between the two groups. According to increments in aldosterone levels, an increasing tendency of HDL-C and decreasing tendencies of TG and non-HDL-C were observed.
Conclusion
PA patients had lower TC and TG levels than EH patients, independent of glycemic status and renal function.

Citations

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Targeting cholesterol-dependent adrenal steroidogenesis for management of primary aldosteronism
Hao Wu, Hongbo He, Tong Han, Xiaoyu Tian, Zhiming Zhu
Trends in Endocrinology & Metabolism.2025;[Epub] CrossRef
The association between aldosterone and lipid profiles in patients with primary aldosteronism
Ning-Peng Liang, Kun-Rui Rao, Ming Hu, Ru-Yi Bao, Jian-Wei Liu, Ze-Qun Lai, Hong-Jin Zhang, Huang Zhang, Meng-Bo Wu, Xiang-Tao Zhang, Yi-Fei Dong
Scientific Reports.2025;[Epub] CrossRef
Comparison of saline infusion test and captopril challenge test in the diagnosis of Chinese with primary aldosteronism in different age groups
Kaiwen Sun, Minghui Gong, Yang Yu, Minghui Yang, Ying Zhang, Yinong Jiang, Wei Song
Frontiers in Endocrinology.2024;[Epub] CrossRef
The prevalence of metabolic syndrome in primary aldosteronism and essential hypertension: A systematic review and meta‐analysis
Kaiwen Sun, Chenxu Zhou, Minghui Gong, Ying Zhang, Yinong Jiang, Wei Song
The Journal of Clinical Hypertension.2024; 26(8): 879. CrossRef
Meta‐analysis of blood parameters related to lipid and glucose metabolism between two subtypes of primary aldosteronism
Qiu‐Gen Zhu, Feng Zhu
The Journal of Clinical Hypertension.2023; 25(1): 13. CrossRef
2023 Korean Endocrine Society Consensus Guidelines for the Diagnosis and Management of Primary Aldosteronism
Jeonghoon Ha, Jung Hwan Park, Kyoung Jin Kim, Jung Hee Kim, Kyong Yeun Jung, Jeongmin Lee, Jong Han Choi, Seung Hun Lee, Namki Hong, Jung Soo Lim, Byung Kwan Park, Jung-Han Kim, Kyeong Cheon Jung, Jooyoung Cho, Mi-kyung Kim, Choon Hee Chung
Endocrinology and Metabolism.2023; 38(6): 597. CrossRef
The differences of serum lipid profiles between primary aldosteronism and essential hypertension: a meta-analysis and systematic review
Worapaka Manosroi, Pitchaporn Phudphong, Pichitchai Atthakomol, Mattabhorn Phimphilai
BMC Endocrine Disorders.2022;[Epub] CrossRef

Adrenal Gland
Contralateral Suppression at Adrenal Venous Sampling Is Associated with Renal Impairment Following Adrenalectomy for Unilateral Primary Aldosteronism: Ye Seul Yang, Seung Hun Lee, Jung Hee Kim, Jee Hee Yoo, Jung Hyun Lee, Seo Young Lee, A Ram Hong, Dong-Hwa Lee, Jung-Min Koh, Jae Hyeon Kim, Sang Wan Kim; Endocrinol Metab. 2021;36(4):875-884. Published online August 11, 2021; DOI: https://doi.org/10.3803/EnM.2021.1047

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Background
Adrenal venous sampling (AVS) is performed to distinguish the subtype of primary aldosteronism (PA). The clinical implication of contralateral suppression (CS; aldosterone/cortisol_nondominantperipheral) at AVS remains unclear. We aimed to investigate the clinical significance of CS and its impact on postoperative outcomes after unilateral adrenalectomy.
Methods
In this retrospective observational multi-center study, we analyzed PA patients who underwent both successful adrenocorticotropin hormone-stimulated AVS and unilateral adrenalectomy. Successful cannulation was defined as the selectivity index (cortisol_adrenal/ cortisol_peripheral) ≥3. Clinical and biochemical outcomes after unilateral adrenalectomy were evaluated based on the international Primary Aldosteronism Surgical Outcome consensus.
Results
Among 263 patients analyzed, 247 had CS (93.9%). Patients with CS had lower serum potassium levels, higher plasma aldosterone concentration, higher aldosterone-to-renin ratio (ARR), and larger adenoma size than those without CS. Those with CS showed significantly higher lateralization index than those without CS (P<0.001). Although postoperative blood pressure and ARR significantly decreased in those with CS, clinical and biochemical outcomes were comparable in both groups. When the cut-off value of age was determined using receiver operating characteristic (ROC) analysis, patients aged ≥50 years old with contralateral suppression index (CSI; the ratio between aldosterone/cortisol_nondominant and aldosterone/cortisol_peripheral) ≤0.26 had greater odds ratio (6.43; 95% confidence interval, 1.30 to 31.69) of incident chronic kidney disease than those aged <50 years with CSI >0.26 after adjusting for other factors.
Conclusion
CS may not predict postoperative clinical and biochemical outcomes in subjects with unilateral aldosterone excess, but it is associated with postsurgical deterioration of renal function in subjects over 50 years with CSI ≤0.26.

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Treatment decision based on unilateral index from nonadrenocorticotropic hormone-stimulated and adrenocorticotropic hormone-stimulated adrenal vein sampling in primary aldosteronism
Xizi Zhang, Xiaoyu Shu, Feifei Wu, Jun Yang, Qingfeng Cheng, Zhipeng Du, Ying Song, Yi Yang, Jinbo Hu, Yue Wang, Qifu Li, Shumin Yang
Journal of Hypertension.2024; 42(3): 450. CrossRef
Correlation of Histopathologic Subtypes of Primary Aldosteronism with Clinical Phenotypes and Postsurgical Outcomes
Chang Ho Ahn, You-Bin Lee, Jae Hyeon Kim, Young Lyun Oh, Jung Hee Kim, Kyeong Cheon Jung
The Journal of Clinical Endocrinology & Metabolism.2024; 109(8): e1582. CrossRef
Development of a multivariate model predictive of post-adrenalectomy renal function decline in patients with primary aldosteronism: a large-cohort single-center study
Wenhao Lin, Juping Zhao, Chen Fang, Wei He, Xin Huang, Fukang Sun, Jun Dai
World Journal of Urology.2024;[Epub] CrossRef
Prognostic value of contralateral suppression on kidney function after surgery in patients with primary aldosteronism
Nathalie Voss, Sara Mørup, Caroline Clausen, Claus larsen Feltoft, Jan Viberg Jepsen, Mads Hornum, Mikkel Andreassen, Jesper Krogh
Clinical Endocrinology.2023; 98(3): 306. CrossRef
Factors Predicting Long-term Estimated Glomerular Filtration Rate Decrease, a Reliable Indicator of Renal Function After Adrenalectomy in Primary Aldosteronism
Qiyu He, Zhimin Tan, Yu Liu, Liang Zhou
Endocrine Practice.2023; 29(3): 199. CrossRef
Prognostic value of contralateral suppression for remission after surgery in patients with primary aldosteronism
Sara Mørup, Nathalie Voss, Caroline Clausen, Claus Larsen Feltoft, Mikkel Andreassen, Jesper Krogh
Clinical Endocrinology.2022; 96(6): 793. CrossRef
Contralateral Suppression at Adrenal Venous Sampling Is Associated with Renal Impairment Following Adrenalectomy for Unilateral Primary Aldosteronism (Endocrinol Metab 2021;36:875-84, Ye Seul Yang et al.)
Zhimin Tan, Qiyu He, Liang Zhou
Endocrinology and Metabolism.2022; 37(6): 951. CrossRef
Contralateral Suppression at Adrenal Venous Sampling Is Associated with Renal Impairment Following Adrenalectomy for Unilateral Primary Aldosteronism (Endocrinol Metab 2021;36:875-84, Ye Seul Yang et al.)
Ye Seul Yang, Sang Wan Kim
Endocrinology and Metabolism.2022; 37(6): 953. CrossRef

Adrenal Gland
Diagnostic Accuracy of Computed Tomography in Predicting Primary Aldosteronism Subtype According to Age (Endocrinol Metab 2021;36:401-12, Seung Hun Lee et al.): Seung Hun Lee, Jong Woo Kim, Hyun-Ki Yoon, Jung-Min Koh, Chan Soo Shin, Sang Wan Kim, Jung Hee Kim; Endocrinol Metab. 2021;36(4):914-915. Published online August 27, 2021; DOI: https://doi.org/10.3803/EnM.2021.402

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Strategies for subtyping primary aldosteronism
Yun-Hsuan Yang, Yu-Ling Chang, Bo-Ching Lee, Ching-Chu Lu, Wei-Ting Wang, Ya-Hui Hu, Han-Wen Liu, Yung-Hsiang Lin, Chin-Chen Chang, Wan-Chen Wu, Fen-Yu Tseng, Yen-Hung Lin, Vin-Cent Wu, Chii-Min Hwu
Journal of the Formosan Medical Association.2024; 123: S114. CrossRef
Diagnostic consistency between computed tomography and adrenal vein sampling of primary aldosteronism: Leading to successful curative outcome after adrenalectomy: A retrospective study
Byung-Chang Kim, Hyun-Ki Yoon, Kye Jin Park, Gun Ha Kim, Shin Jeong Pak, Douk Kwon, Jae Won Cho, Won Woong Kim, Yu-mi Lee, Jung-Min Koh, Seung Hun Lee, Ki-Wook Chung, Tae-Yon Sung
International Journal of Surgery.2023;[Epub] CrossRef

Clinical Study
Diagnostic Accuracy of Computed Tomography in Predicting Primary Aldosteronism Subtype According to Age: Seung Hun Lee, Jong Woo Kim, Hyun-Ki Yoon, Jung-Min Koh, Chan Soo Shin, Sang Wan Kim, Jung Hee Kim; Endocrinol Metab. 2021;36(2):401-412. Published online March 31, 2021; DOI: https://doi.org/10.3803/EnM.2020.901

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Background
Guidelines by the Endocrine Society Guideline on bypassing adrenal vein sampling (AVS) in patients <35 years old with marked primary aldosteronism (PA) (hypokalemia and elevated plasma aldosterone concentration [PAC]) and a unilateral lesion on computed tomography (CT) are based on limited number of studies. We aimed to determine the accuracy of CT in PA patients according to age.
Methods
In this retrospective study, we investigated the concordance between CT and AVS in 466 PA patients from two tertiary centers who successfully underwent AVS.
Results
CT had an overall accuracy of 64.4% (300/466). In the group with unilateral lesion, patients with hypokalemia had higher concordance than those without hypokalemia (85.0% vs. 43.6%, P<0.001). In the group with marked PA (hypokalemia and PAC >15.9 ng/dL) and unilateral lesion, accuracy of CT was 84.6% (11/13) in patients aged <35 years; 100.0% (20/20), aged 35 to 39 years; 89.4% (59/66), aged 40 to 49 years; and 79.8% (79/99), aged ≥50 years. Cut-off age and PAC for concordance was <50 years and >29.6 ng/dL, respectively. The significant difference in accuracy of CT in 198 patients with marked PA and a unilateral lesion between the <50-year age group and ≥50-year age group (90.9% vs. 79.8%, P=0.044) disappeared in 139 of 198 patients with PAC > 30.0 ng/dL (91.9% vs. 87.7%, P=0.590).
Conclusion
Patients with hypokalemia, PAC >30.0 ng/dL, and unilateral lesion were at high risk of unilateral PA regardless of age.

Citations

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Adrenal Vein Sampling for Primary Aldosteronism: Recommendations From the Australian and New Zealand Working Group
Jun Yang, Damon A. Bell, Richard Carroll, Cherie Chiang, Diane Cowley, Emma Croker, James C. G. Doery, Marianne Elston, Paul Glendenning, Julie Hetherington, Andrea R. Horvath, Shanshan Lu‐Shirzad, Elisabeth Ng, Amanda Mather, Nimalie Perera, Muddassir Ra
Clinical Endocrinology.2025; 102(1): 31. CrossRef
Predicting Bilateral Subtypes of Primary Aldosteronism Without Adrenal Vein Sampling: A Systematic Review and Meta-analysis
Elisabeth Ng, Stella May Gwini, Winston Zheng, Peter J Fuller, Jun Yang
The Journal of Clinical Endocrinology & Metabolism.2024; 109(2): e837. CrossRef
Subtype-specific Body Composition and Metabolic Risk in Patients With Primary Aldosteronism
Seung Shin Park, Chang Ho Ahn, Sang Wan Kim, Ji Won Yoon, Jung Hee Kim
The Journal of Clinical Endocrinology & Metabolism.2024; 109(2): e788. CrossRef
Imaging Concordance With Vein Sampling for Primary Aldosteronism: A Cohort Study and Literature Review
Sara Cartwright, MaKayla Gordon, Jessica Shank, Abbey Fingeret
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Correlation of Histopathologic Subtypes of Primary Aldosteronism with Clinical Phenotypes and Postsurgical Outcomes
Chang Ho Ahn, You-Bin Lee, Jae Hyeon Kim, Young Lyun Oh, Jung Hee Kim, Kyeong Cheon Jung
The Journal of Clinical Endocrinology & Metabolism.2024; 109(8): e1582. CrossRef
Temporal trends in clinical features of patients with primary aldosteronism over 20 years
Seung Shin Park, Chang Ho Ahn, Sang Wan Kim, Jung-Min Koh, Seung Hun Lee, Jung Hee Kim
Hypertension Research.2024; 47(8): 2019. CrossRef
Best Practices: Indications and Procedural Controversies of Adrenal Vein Sampling for Primary Aldosteronism
Keith B. Quencer, Abhilasha Singh, Anu Sharma
American Journal of Roentgenology.2023; 220(2): 190. CrossRef
Accuracy of Gallium-68 Pentixafor Positron Emission Tomography–Computed Tomography for Subtyping Diagnosis of Primary Aldosteronism
Jinbo Hu, Tingting Xu, Hang Shen, Ying Song, Jun Yang, Aipin Zhang, Haoyuan Ding, Naiguo Xing, Zhuoyuan Li, Lin Qiu, Linqiang Ma, Yi Yang, Zhengping Feng, Zhipeng Du, Wenwen He, Yue Sun, Jun Cai, Qifu Li, Yue Chen, Shumin Yang, Mei Mei, Suxin Luo, Kangla
JAMA Network Open.2023; 6(2): e2255609. CrossRef
Adrenal Vein Sampling in the Young – Necessary or Not?
Eleftheria Gkaniatsa, Oskar Ragnarsson
Experimental and Clinical Endocrinology & Diabetes.2023; 131(07/08): 435. CrossRef
2023 Korean Endocrine Society Consensus Guidelines for the Diagnosis and Management of Primary Aldosteronism
Jeonghoon Ha, Jung Hwan Park, Kyoung Jin Kim, Jung Hee Kim, Kyong Yeun Jung, Jeongmin Lee, Jong Han Choi, Seung Hun Lee, Namki Hong, Jung Soo Lim, Byung Kwan Park, Jung-Han Kim, Kyeong Cheon Jung, Jooyoung Cho, Mi-kyung Kim, Choon Hee Chung
Endocrinology and Metabolism.2023; 38(6): 597. CrossRef
Indices of ACTH‐stimulated adrenal venous sampling as predictors of postsurgical outcomes in primary aldosteronism
Seung Hun Lee, Jong Woo Kim, Hyun‐Ki Yoon, Sang Wan Kim, Su Jin Kim, Kyu Eun Lee, Yu‐Mi Lee, Tae‐Yon Sung, Suck Joon Hong, Chan Soo Shin, Jung‐Min Koh, Jung Hee Kim
Clinical Endocrinology.2022; 96(4): 521. CrossRef
Expression of CYP11B1 and CYP11B2 in adrenal adenoma correlates with clinical characteristics of primary aldosteronism
Chang Ho Ahn, Hee Young Na, So Yeon Park, Hyeong Won Yu, Su‐Jin Kim, June Young Choi, Kyu Eun Lee, Sang Wan Kim, Kyeong Cheon Jung, Jung Hee Kim
Clinical Endocrinology.2022; 96(1): 30. CrossRef
Letter to the Editor From Singhania et al: “Increasing Incidence of Primary Aldosteronism in Western Sweden During 3 Decades—Yet an Underdiagnosed Disorder”
Pankaj Singhania, Rana Bhattacharjee
The Journal of Clinical Endocrinology & Metabolism.2022; 107(3): e1315. CrossRef
Development and validation of model for sparing adrenal venous sampling in diagnosing unilateral primary aldosteronism
Ying Song, Jun Yang, Hang Shen, Elisabeth Ng, Peter J. Fuller, Zhengping Feng, Jinbo Hu, Linqiang Ma, Yi Yang, Zhipeng Du, Yue Wang, Ting Luo, Wenwen He, Qifu Li, Fei-Fei Wu, Shumin Yang
Journal of Hypertension.2022; 40(9): 1692. CrossRef
Validation of Existing Clinical Prediction Tools for Primary Aldosteronism Subtyping
Barbora Kološová, Petr Waldauf, Dan Wichterle, Jan Kvasnička, Tomáš Zelinka, Ondřej Petrák, Zuzana Krátká, Lubomíra Forejtová, Jan Kaván, Jiří Widimský, Robert Holaj
Diagnostics.2022; 12(11): 2806. CrossRef
Fully automatic volume measurement of the adrenal gland on CT using deep learning to classify adrenal hyperplasia
Taek Min Kim, Seung Jae Choi, Ji Yeon Ko, Sungwan Kim, Chang Wook Jeong, Jeong Yeon Cho, Sang Youn Kim, Young-Gon Kim
European Radiology.2022; 33(6): 4292. CrossRef
Diagnostic Accuracy of Computed Tomography in Predicting Primary Aldosteronism Subtype According to Age (Endocrinol Metab 2021;36:401-12, Seung Hun Lee et al.)
Seung Hun Lee, Jong Woo Kim, Hyun-Ki Yoon, Jung-Min Koh, Chan Soo Shin, Sang Wan Kim, Jung Hee Kim
Endocrinology and Metabolism.2021; 36(4): 914. CrossRef
Diagnostic Accuracy of Computed Tomography in Predicting Primary Aldosteronism Subtype According to Age (Endocrinol Metab 2021;36:401-12, Seung Hun Lee et al.)
Pankaj Singhania
Endocrinology and Metabolism.2021; 36(4): 912. CrossRef

Clinical Study
Radioactive Parathyroid Adenomas on Sestamibi Scans: Low Parathyroid Hormone Secretory Potential and Large Volume: Sung Hye Kong, Jung Hee Kim, Sang Wan Kim, Chan Soo Shin; Endocrinol Metab. 2021;36(2):351-358. Published online April 6, 2021; DOI: https://doi.org/10.3803/EnM.2020.823

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Background
We investigated the clinical characteristics of parathyroid adenomas according to radioactivity on ^99mTc-methoxyisobutylisonitrile (^99mTc-MIBI) single-photon emission computed tomography/computed tomography (SPECT/CT) in primary hyperparathyroidism (PHPT) patients.
Methods
The study included 217 patients diagnosed with PHPT from 2000 to 2019 at Seoul National University Hospital who underwent ^99mTc-MIBI SPECT/CT scans. On SPECT/CT, the radioactivity of parathyroid adenomas was measured as the ratio of the mean radioactivity count of the parathyroid adenoma to that of the contralateral thyroid.
Results
Tumors were localized by MIBI scans in 190 patients (MIBI [+] group) and by ultrasound or parathyroid four-dimensional CT in 27 patients (MIBI [–] group). The mean age was 55 years, and mean body mass index was 23.4 kg/m². Patients in the MIBI (+) group had higher parathyroid hormone (iPTH) and lower 25-hydroxy vitamin D levels than those in the MIBI (–) group (168.0 pg/mL [interquartile range, IQR, 111.0 to 250.7] vs. 134.7 pg/mL [IQR, 98.2 to 191.2], P=0.049; 15.4 ng/mL [IQR, 11.1 to 20.8] vs. 21.2 ng/mL [IQR, 13.9 to 24.8], P=0.012, respectively). Patients in the MIBI (+) group had larger tumor volumes, but lower iPTH/volume ratios than those in the MIBI (–) group (1,216.66 [IQR, 513.40 to 2,663.02], 499.82 mm³ [IQR, 167.77 to 1,229.80], P=0.002; 0.18 [IQR, 0.08 to 0.46], 0.40 pg/mL/mm³ [IQR, 0.16 to 1.29], P=0.016, respectively). Adenoma radioactivity was positively correlated with calcium, iPTH, and volume (r=0.180, P=0.020; r=0.208, P=0.006; r=0.288, P<0.001, respectively), but not with iPTH/volume.
Conclusion
Parathyroid adenomas with positive MIBI scans had larger volumes and higher iPTH than adenomas with negative scans, but lower iPTH per unit volume.

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Protein Signatures of Parathyroid Adenoma according to Tumor Volume and Functionality
Sung Hye Kong, Jeong Mo Bae, Jung Hee Kim, Sang Wan Kim, Dohyun Han, Chan Soo Shin
Endocrinology and Metabolism.2024; 39(2): 375. CrossRef
Incidentally detected follicular thyroid carcinoma mimicking parathyroid adenoma on Tc-99m MIBI scan: A case report
Yeon-Hee Han, Hwan-Jeong Jeong, Sun Young Lee, Seok Tae Lim
Medicine.2024; 103(18): e38107. CrossRef
Atypical parathyroid tumor: clinical and parathyroid hormone response to surgical treatment
Antonio Giulio Napolitano, Massimo Monacelli, Valeria Liparulo, Eleonora Coviello, Domenico Pourmolkara, Stefano Avenia, Andrea Polistena
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Adrenal gland
Diagnosis for Pheochromocytoma and Paraganglioma: A Joint Position Statement of the Korean Pheochromocytoma and Paraganglioma Task Force: Eu Jeong Ku, Kyoung Jin Kim, Jung Hee Kim, Mi Kyung Kim, Chang Ho Ahn, Kyung Ae Lee, Seung Hun Lee, You-Bin Lee, Kyeong Hye Park, Yun Mi Choi, Namki Hong, A Ram Hong, Sang-Wook Kang, Byung Kwan Park, Moon-Woo Seong, Myungshin Kim, Kyeong Cheon Jung, Chan Kwon Jung, Young Seok Cho, Jin Chul Paeng, Jae Hyeon Kim, Ohk-Hyun Ryu, Yumie Rhee, Chong Hwa Kim, Eun Jig Lee; Endocrinol Metab. 2021;36(2):322-338. Published online April 6, 2021; DOI: https://doi.org/10.3803/EnM.2020.908

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Pheochromocytoma and paraganglioma (PPGLs) are rare catecholamine-secreting neuroendocrine tumors but can be life-threatening. Although most PPGLs are benign, approximately 10% have metastatic potential. Approximately 40% cases are reported as harboring germline mutations. Therefore, timely and accurate diagnosis of PPGLs is crucial. For more than 130 years, clinical, molecular, biochemical, radiological, and pathological investigations have been rapidly advanced in the field of PPGLs. However, performing diagnostic studies to localize lesions and detect metastatic potential can be still challenging and complicated. Furthermore, great progress on genetics has shifted the paradigm of genetic testing of PPGLs. The Korean PPGL task force team consisting of the Korean Endocrine Society, the Korean Surgical Society, the Korean Society of Nuclear Medicine, the Korean Society of Pathologists, and the Korean Society of Laboratory Medicine has developed this position statement focusing on the comprehensive and updated diagnosis for PPGLs.

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A Prospective Comparative Study of 18F-FDOPA PET/CT Versus 123I-MIBG Scintigraphy With SPECT/CT for the Diagnosis of Pheochromocytoma and Paraganglioma
Changhwan Sung, Hyo Sang Lee, Dong Yun Lee, Yong-il Kim, Jae Eun Kim, Sang Ju Lee, Seung Jun Oh, Tae-Yon Sung, Yu-Mi Lee, Young Hoon Kim, Beom-Jun Kim, Jung-Min Koh, Seung Hun Lee, Jin-Sook Ryu
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Preoperative prediction of metastatic pheochromocytoma and paraganglioma using clinical, genetic, and biochemical markers: A cohort study
Seung Shin Park, Chang Ho Ahn, Seunghoo Lee, Woochang Lee, Won Woong Kim, Yu‐Mi Lee, Su Jin Kim, Tae‐Yon Sung, Kyu Eun Lee, Jung Hee Kim, Seung Hun Lee, Jung‐Min Koh
Journal of Internal Medicine.2024; 296(1): 68. CrossRef
Germline Mutations and Phenotypic Associations in Korean Patients With Pheochromocytoma and Paraganglioma: A Multicenter Study and Literature Review
Kwan Hoon Jo, Jaewoong Lee, Jaeeun Yoo, Hoon Seok Kim, Eun Sook Kim, Je Ho Han, Yi Sun Jang, Jae-Seung Yun, Jang Won Son, Soon Jib Yoo, Seung Hwan Lee, Dong Jun Lim, Hyuk-Sang Kwon, Seungok Lee, Sungdae Moon, Myungshin Kim
Annals of Laboratory Medicine.2024; 44(6): 591. CrossRef
Raccomandazioni della lista del GdS-Endocrinologia e Malattie del Metabolismo SIPMeL-Choosing wisely: tiroide, anticorpi anti-tiroide, cortisolo, surrene, vitamina D: aggiornamento 2024
Romolo M. DORIZZI, Vincenzo BRESCIA, Marina VITILLO, Ottavia PORZIO, Federica D’AURIZIO
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Clinical and epidemiological characteristics of patients with pheochromocytoma and retroperitoneal paraganglioma
D. V. Rebrova, N. V. Vorokhobina
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A Ram Hong, Ho-Cheol Kang
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Lesion-based indicators predict long-term outcomes of pheochromocytoma and paraganglioma– SIZEPASS
Helena Hanschell, Salvador Diaz-Cano, Alfredo Blanes, Nadia Talat, Gabriele Galatá, Simon Aylwin, Klaus Martin Schulte
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Yin Young Lee, Seung Min Chung
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Jaroslav Zajíc, Aleš Mokráček, Ladislav Pešl, Jiří Haniš, Dita Schaffelhoferová
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Change of Computed Tomography-Based Body Composition after Adrenalectomy in Patients with Pheochromocytoma
Yousun Ko, Heeryoel Jeong, Seungwoo Khang, Jeongjin Lee, Kyung Won Kim, Beom-Jun Kim
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International Journal of Thyroidology.2022; 15(1): 1. CrossRef
Pheochromocytoma with Retroperitoneal Metastasis: A Case Report
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Hypothalamus and Pituitary gland
Best Achievements in Pituitary and Adrenal Diseases in 2020: Chang Ho Ahn, Jung Hee Kim; Endocrinol Metab. 2021;36(1):51-56. Published online February 24, 2021; DOI: https://doi.org/10.3803/EnM.2021.108

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Significant progress in pituitary and adrenal diseases was made in 2020. This review presents major translational and clinical advances in research on pituitary and adrenal diseases, encompassing their epidemiology, pathogenesis, diagnosis, and clinical management. We address the controversy regarding the nomenclature of pituitary neuroendocrine tumors, omics-based molecular classification of pituitary adenomas, and novel drugs for Cushing’s disease in the field of pituitary diseases. In the field of adrenal diseases, we cover big data-driven epidemiology of adrenal tumors, steroid profiling as a new diagnostic tool, and the utility of scoring systems in the decision-making process of managing primary aldosteronism. This brief article will broaden readers’ understanding of pituitary and adrenal diseases.

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Surgical management and outcomes of spinal metastasis of malignant adrenal tumor: A retrospective study of six cases and literature review
Xiangzhi Ni, Jing Wang, Jiashi Cao, Kun Zhang, Shuming Hou, Xing Huang, Yuanjin Song, Xin Gao, Jianru Xiao, Tielong Liu
Frontiers in Oncology.2023;[Epub] CrossRef
2023 Korean Endocrine Society Consensus Guidelines for the Diagnosis and Management of Primary Aldosteronism
Jeonghoon Ha, Jung Hwan Park, Kyoung Jin Kim, Jung Hee Kim, Kyong Yeun Jung, Jeongmin Lee, Jong Han Choi, Seung Hun Lee, Namki Hong, Jung Soo Lim, Byung Kwan Park, Jung-Han Kim, Kyeong Cheon Jung, Jooyoung Cho, Mi-kyung Kim, Choon Hee Chung
Endocrinology and Metabolism.2023; 38(6): 597. CrossRef

Clinical Study
Longitudinal Changes of High Molecular Weight Adiponectin are Associated with Postpartum Development of Type 2 Diabetes Mellitus in Patients with Gestational Diabetes Mellitus: Dong-Hwa Lee, Jung Ah Lim, Jung Hee Kim, Soo Heon Kwak, Sung Hee Choi, Hak Chul Jang; Endocrinol Metab. 2021;36(1):114-122. Published online February 24, 2021; DOI: https://doi.org/10.3803/EnM.2020.831

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Background
The influence of serial changes of adipokines on maternal glucose metabolism from pregnancy to postpartum periods in women with previous gestational diabetes mellitus (pGDM) has not been thoroughly explored. We tried to examine the relationship between the serial changes of adipokines and the development of diabetes mellitus (DM) in women with pGDM.
Methods
We longitudinally measured following adipokines: high molecular weight (HMW) adiponectin, retinol-binding protein-4 (RBP-4), lipocalin-2, and chemerin, during pregnancy, and at 2 months and 3 years after delivery. Based on glucose status at postpartum 3 years, we divided into three groups: normal glucose tolerance (GDM-NGT, n=20), impaired glucose tolerance (GDM-IGT, n=23), and GDM-DM (n=22). We analyzed the correlations between adipokines and various metabolic parameters.
Results
Plasma HMW adiponectin levels were not different among the three groups during pregnancy. However, HMW adiponectin levels increased at 3 years after the delivery in women with GDM-NGT compared with women with GDM-DM. In the GDM-IGT group, HMW adiponectin levels increased at 2 months postpartum compared to pregnancy period. In contrast, HMW adiponectin levels showed no alternation after parturition in women with GDM-DM. HMW adiponectin was negatively correlated with body mass index and a homeostasis model assessment of insulin resistance. Other adipokines such as RBP-4, lipocalin-2, and chemerin neither showed any differences among the groups nor any significant correlations with 3 years postpartum status of glucose intolerance.
Conclusion
Serial changes of HMW adiponectin are associated with the maintenance of glucose metabolism in women with pGDM after delivery.

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Reproductive risk factors across the female lifecourse and later metabolic health
Amy R. Nichols, Jorge E. Chavarro, Emily Oken
Cell Metabolism.2024; 36(2): 240. CrossRef
Gestational Diabetes Mellitus and Colostral Appetite-Regulating Adipokines
Jolanta Lis-Kuberka, Marta Berghausen-Mazur, Magdalena Orczyk-Pawiłowicz
International Journal of Molecular Sciences.2024; 25(7): 3853. CrossRef
Chemerin and Polycystic Ovary Syndrome: A Comprehensive Review of Its Role as a Biomarker and Therapeutic Target
Stefano Palomba, Giuseppe Seminara, Flavia Costanzi, Donatella Caserta, Antonio Aversa
Biomedicines.2024; 12(12): 2859. CrossRef
The levels of osteopontin in human milk of Chinese mothers and its associations with maternal body composition
Huijuan Ruan, Qingya Tang, Xuan Zhao, Yajie Zhang, Xuelin Zhao, Yi Xiang, Wei Geng, Yi Feng, Wei Cai
Food Science and Human Wellness.2022; 11(5): 1419. CrossRef
Association of Circulatory Adiponectin with the Parameters of Madras Diabetes Research Foundation-Indian Diabetes Risk Score
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Hypothalamus and Pituitary gland
Corrigendum: Correction of Acknowledgments. Transcriptome Analysis Identifies an Attenuated Local Immune Response in Invasive Nonfunctioning Pituitary Adenomas: Yong Hwy Kim, Jung Hee Kim; Endocrinol Metab. 2020;35(4):965. Published online November 23, 2020; DOI: https://doi.org/10.3803/EnM.2020.407; Corrects: Endocrinol Metab 2019;34(3):314

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Clinical Study
Identification of Novel Genetic Variants Related to Trabecular Bone Score in Community-Dwelling Older Adults: Sung Hye Kong, Ji Won Yoon, Jung Hee Kim, JooYong Park, Jiyeob Choi, Ji Hyun Lee, A Ram Hong, Nam H. Cho, Chan Soo Shin; Endocrinol Metab. 2020;35(4):801-810. Published online November 24, 2020; DOI: https://doi.org/10.3803/EnM.2020.735

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Background
As the genetic variants of trabecular bone microarchitecture are not well-understood, we performed a genome-wide association study to identify genetic determinants of bone microarchitecture analyzed by trabecular bone score (TBS).
Methods
TBS-associated genes were discovered in the Ansung cohort (discovery cohort), a community-based rural cohort in Korea, and then validated in the Gene-Environment Interaction and Phenotype (GENIE) cohort (validation cohort), consisting of subjects who underwent health check-up programs. In the discovery cohort, 2,451 participants were investigated for 1.42 million genotyped and imputed markers.
Results
In the validation cohort, identified as significant variants were evaluated in 2,733 participants. An intronic variant in iroquois homeobox 3 (IRX3), rs1815994, was significantly associated with TBS in men (P=3.74E-05 in the discovery cohort, P=0.027 in the validation cohort). Another intronic variant in mitogen-activated protein kinase kinase 5 (MAP2K5), rs11630730, was significantly associated with TBS in women (P=3.05E-09 in the discovery cohort, P=0.041 in the validation cohort). Men with the rs1815994 variant and women with the rs11630730 variant had lower TBS and lumbar spine bone mineral density. The detrimental effects of the rs1815994 variant in men and rs11630730 variant in women were also identified in association analysis (β=–0.0281, β=–0.0465, respectively).
Conclusion
In this study, the rs1815994 near IRX3 in men and rs11630730 near MAP2K5 in women were associated with deterioration of the bone microarchitecture. It is the first study to determine the association of genetic variants with TBS. Further studies are needed to confirm our findings and identify additional variants contributing to the trabecular bone microarchitecture.

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A novel genetic mouse model of osteoporosis with double heterozygosity of Irx3 and Irx5 characterizes sex-dependent phenotypes in bone homeostasis
Xinyu Chen, Zhengchao Dou, Joe Eun Son, Meng Duan, Fei Yang, Shankuan Zhu, Chi-Chung Hui
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Neural EGFL like 1 as a novel gene for Trabecular Bone Score in older adults: The Bushehr Elderly Health (BEH) program
Mohammad Bidkhori, Mahdi Akbarzadeh, Noushin Fahimfar, Mina Jahangiri, Sahar Seddiq, Bagher Larijani, Iraj Nabipour, Mahsa Mohammad Amoli, Nekoo Panahi, Abbas Dehghan, Kourosh Holakouie-Naieni, Afshin Ostovar, Dengshun Miao
PLOS ONE.2024; 19(9): e0309401. CrossRef

Clinical Study
Whole Exome Sequencing Identifies Novel Genetic Alterations in Patients with Pheochromocytoma/Paraganglioma: Soo Hyun Seo, Jung Hee Kim, Man Jin Kim, Sung Im Cho, Su Jin Kim, Hyein Kang, Chan Soo Shin, Sung Sup Park, Kyu Eun Lee, Moon-Woo Seong; Endocrinol Metab. 2020;35(4):909-917. Published online December 23, 2020; DOI: https://doi.org/10.3803/EnM.2020.756

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Background
Pheochromocytoma and paragangliomas (PPGL) are known as tumors with the highest level of heritability, approximately 30% of all cases. Clinical practice guidelines of PPGL recommend genetic testing for germline variants in all patients. In this study, we used whole exome sequencing to identify novel causative variants associated with PPGL to improve the detection of rare genetic variants in our cohort.
Methods
Thirty-six tested negative for pathogenic variants in previous Sanger sequencing or targeted gene panel testing for PPGL underwent whole exome sequencing. Whole exome sequencing was performed using DNA samples enriched using TruSeq Custom Enrichment Kit and sequenced with MiSeq (Illumina Inc.). Sequencing alignment and variant calling were performed using SAMtools.
Results
Among previously mutation undetected 36 patients, two likely pathogenic variants and 13 variants of uncertain significance (VUS) were detected in 32 pheochromocytoma-related genes. SDHA c.778G>A (p.Gly260Arg) was detected in a patient with head and neck paraganglioma, and KIF1B c.2787-2A>C in a patient with a bladder paraganglioma. Additionally, a likely pathogenic variant in BRCA2, VUS in TP53, and VUS in NFU1 were detected.
Conclusion
Exome sequencing further identified genetic alterations by 5.6% in previously mutation undetected patients in PPGL. Implementation of targeted gene sequencing consisted of extended genes of PPGL in routine clinical screening can support the level of comprehensive patient assessment.

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Patient Sex and Origin Influence Distribution of Driver Genes and Clinical Presentation of Paraganglioma
Susan Richter, Nicole Bechmann
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Clinical Study
Stimulated Salivary Cortisol as a Noninvasive Diagnostic Tool for Adrenal Insufficiency: Yoon Ji Kim, Jung Hee Kim, A Ram Hong, Kyeong Seon Park, Sang Wan Kim, Chan Soo Shin, Seong Yeon Kim; Endocrinol Metab. 2020;35(3):628-635. Published online September 22, 2020; DOI: https://doi.org/10.3803/EnM.2020.707

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Background
Salivary cortisol is routinely used as a diagnostic test for Cushing syndrome. The diagnostic use of salivary cortisol for adrenal insufficiency (AI), however, is less established. We aimed to investigate the utility of morning basal and adrenocorticotropic hormone-stimulated salivary cortisol in diagnosing AI in Korean adults.
Methods
We prospectively included 120 subjects (female, n=70) from Seoul National University Hospital. AI was defined as a stimulated serum cortisol level of <496.8 nmol/L during the short Synacthen test (SST). Serum and saliva samples were drawn between 8:00 AM and 10:00 AM. Salivary cortisol levels were measured using an enzyme immunoassay kit.
Results
Thirty-four patients were diagnosed with AI according to the SST results. Age, sex, body mass index, serum albumin levels, and serum creatinine levels did not significantly differ between the normal and AI groups. Basal and stimulated salivary cortisol levels were positively correlated with basal (r=0.538) and stimulated serum cortisol levels (r=0.750), respectively (all P<0.001). Receiver operating characteristic curve analysis yielded a cutoff level of morning basal salivary cortisol of 3.2 nmol/L (sensitivity, 84.9%; specificity, 73.5%; area under the curve [AUC]=0.822). The optimal cutoff value of stimulated salivary cortisol was 13.2 nmol/L (sensitivity, 90.7%; specificity, 94.1%; AUC=0.959). Subjects with a stimulated salivary cortisol level above 13.2 nmol/L but a stimulated serum cortisol level below 496.8 nmol/L (n=2) had lower serum albumin levels than those showing a concordant response.
Conclusion
The diagnostic performance of stimulated salivary cortisol measurements after the SST was comparable to serum cortisol measurements for diagnosing AI.

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Miscellaneous
Encountering COVID-19 as Endocrinologists: Eun-Jung Rhee, Jung Hee Kim, Sun Joon Moon, Won-Young Lee; Endocrinol Metab. 2020;35(2):197-205. Published online June 23, 2020; DOI: https://doi.org/10.3803/EnM.2020.35.2.197

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The world is entering an era of disaster and chaos due to coronavirus disease 2019 (COVID-19), which is caused by severe acute respiratory syndrome coronavirus 2. Since its first emergence in December 2019 in Wuhan, China, COVID-19 has swept through Asia and propagated throughout the world to Europe and North America. As of April 13, 1,773,084 people were infected and 111,652 people had died from COVID-19 globally, and new record levels of infection are being reported every day. Based on the data that have been amassed so far, the primary risk factors for a severe disease course or even mortality from COVID-19 are underlying diseases such as diabetes and hypertension. As the global prevalence of diabetes continues to increase, patients with endocrine diseases such as diabetes mellitus and those who are on long-term corticosteroid therapy due to adrenal insufficiency or hypopituitarism are at risk for a poor prognosis of COVID-19. As endocrinologists, we would like to briefly review the current knowledge about the relationship between COVID-19 and endocrine diseases and to discuss what we can do for the safety and health of our patients with endocrine diseases in this globally threatening situation.

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Miscellaneous
Diagnosis and Treatment of Growth Hormone Deficiency: A Position Statement from Korean Endocrine Society and Korean Society of Pediatric Endocrinology: Jung Hee Kim, Hyun Wook Chae, Sang Ouk Chin, Cheol Ryong Ku, Kyeong Hye Park, Dong Jun Lim, Kwang Joon Kim, Jung Soo Lim, Gyuri Kim, Yun Mi Choi, Seong Hee Ahn, Min Ji Jeon, Yul Hwangbo, Ju Hee Lee, Bu Kyung Kim, Yong Jun Choi, Kyung Ae Lee, Seong-Su Moon, Hwa Young Ahn, Hoon Sung Choi, Sang Mo Hong, Dong Yeob Shin, Ji A Seo, Se Hwa Kim, Seungjoon Oh, Sung Hoon Yu, Byung Joon Kim, Choong Ho Shin, Sung-Woon Kim, Chong Hwa Kim, Eun Jig Lee; Endocrinol Metab. 2020;35(2):272-287. Published online June 24, 2020; DOI: https://doi.org/10.3803/EnM.2020.35.2.272

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Growth hormone (GH) deficiency is caused by congenital or acquired causes and occurs in childhood or adulthood. GH replacement therapy brings benefits to body composition, exercise capacity, skeletal health, cardiovascular outcomes, and quality of life. Before initiating GH replacement, GH deficiency should be confirmed through proper stimulation tests, and in cases with proven genetic causes or structural lesions, repeated GH stimulation testing is not necessary. The dosing regimen of GH replacement therapy should be individualized, with the goal of minimizing side effects and maximizing clinical improvements. The Korean Endocrine Society and the Korean Society of Pediatric Endocrinology have developed a position statement on the diagnosis and treatment of GH deficiency. This position statement is based on a systematic review of evidence and expert opinions.

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Clinical Study
Low Predictive Value of FRAX Adjusted by Trabecular Bone Score for Osteoporotic Fractures in Korean Women: A Community-Based Cohort Study: Hana Kim, Jung Hee Kim, Min Joo Kim, A Ram Hong, HyungJin Choi, EuJeong Ku, Ji Hyun Lee, Chan Soo Shin, Nam H. Cho; Endocrinol Metab. 2020;35(2):359-366. Published online June 24, 2020; DOI: https://doi.org/10.3803/EnM.2020.35.2.359

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Background
The value of the Fracture Risk Assessment Tool (FRAX) and the trabecular bone score (TBS) for assessing osteoporotic fracture risk has not been fully elucidated in Koreans. We conducted this study to clarify the predictive value of FRAX adjusted by TBS for osteoporotic fractures in Korean women.
Methods
After screening 7,192 eligible subjects from the Ansung cohort, 1,165 women aged 45 to 76 years with available bone mineral density (BMD) and TBS data were enrolled in this study. We assessed their clinical risk factors for osteoporotic fractures and evaluated the predictive value of FRAX with or without BMD and TBS.
Results
During the mean follow-up period of 7.5 years, 99 (8.5%) women suffered major osteoporotic fractures (MOFs) and 28 (2.4%) experienced hip fractures. FRAX without BMD, BMD-adjusted FRAX, and TBS-adjusted FRAX were significantly associated with the risk of MOFs (hazard ratio [HR] per percent increase, 1.08; 95% confidence interval [CI], 1.03 to 1.14; HR, 1.09; 95% CI, 1.03 to 1.15; and HR, 1.07; 95% CI, 1.02 to 1.13, respectively). However, BMD-adjusted FRAX and TBS-adjusted FRAX did not predict MOFs better than FRAX without BMD based on the Harrell’s C statistic. FRAX probabilities showed limited value for predicting hip fractures. The cut-off values of FRAX without BMD, FRAX with BMD, and FRAX with BMD adjusted by TBS for predicting MOFs were 7.2%, 5.0%, and 6.7%, respectively.
Conclusion
FRAX with BMD and TBS adjustment did not show better predictive value for osteoporotic fractures in this study than FRAX without adjustment. Moreover, the cut-off values of FRAX probabilities for treatment might be lower in Korean women than in other countries.

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Endocrine Research
Transformation of Mature Osteoblasts into Bone Lining Cells and RNA Sequencing-Based Transcriptome Profiling of Mouse Bone during Mechanical Unloading: A Ram Hong, Kwangsoo Kim, Ji Yeon Lee, Jae-Yeon Yang, Jung Hee Kim, Chan Soo Shin, Sang Wan Kim; Endocrinol Metab. 2020;35(2):456-469. Published online June 24, 2020; DOI: https://doi.org/10.3803/EnM.2020.35.2.456; Correction in: Endocrinol Metab 2021;36(6):1314

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Background
We investigated RNA sequencing-based transcriptome profiling and the transformation of mature osteoblasts into bone lining cells (BLCs) through a lineage tracing study to better understand the effect of mechanical unloading on bone loss.
Methods
Dmp1-CreERt2(+):Rosa26R mice were injected with 1 mg of 4-hydroxy-tamoxifen three times a week starting at postnatal week 7, and subjected to a combination of botulinum toxin injection with left hindlimb tenotomy starting at postnatal week 8 to 10. The animals were euthanized at postnatal weeks 8, 9, 10, and 12. We quantified the number and thickness of X-gal(+) cells on the periosteum of the right and left femoral bones at each time point.
Results
Two weeks after unloading, a significant decrease in the number and a subtle change in the thickness of X-gal(+) cells were observed in the left hindlimbs compared with the right hindlimbs. At 4 weeks after unloading, the decrease in the thickness was accelerated in the left hindlimbs, although the number of labeled cells was comparable. RNA sequencing analysis showed downregulation of 315 genes in the left hindlimbs at 2 and 4 weeks after unloading. Of these, Xirp2, AMPD1, Mettl11b, NEXN, CYP2E1, Bche, Ppp1r3c, Tceal7, and Gadl1 were upregulated during osteoblastogenic/osteocytic and myogenic differentiation in vitro.
Conclusion
These findings demonstrate that mechanical unloading can accelerate the transformation of mature osteoblasts into BLCs in the early stages of bone loss in vivo. Furthermore, some of the genes involved in this process may have a pleiotropic effect on both bone and muscle.

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Clinical Study
Protein Expression of Cyclin B1, Transferrin Receptor, and Fibronectin Is Correlated with the Prognosis of Adrenal Cortical Carcinoma: Sun Joon Moon, Jung Hee Kim, Sung Hye Kong, Chan Soo Shin; Endocrinol Metab. 2020;35(1):132-141. Published online March 19, 2020; DOI: https://doi.org/10.3803/EnM.2020.35.1.132

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Background

Adrenal cortical carcinoma (ACC) is a rare cancer with a variable prognosis. Several prognostic factors of ACC have been previously reported, but a proteomic analysis has not yet been performed. This study aimed to investigate prognostic biomarkers for ACC using a proteomic approach.

Methods

We used reverse-phase protein array data from The Cancer Proteome Atlas, and identified differentially expressed proteins in metastatic ACCs. Multivariate Cox regression analysis adjusted by age and staging was used for survival analysis, and the C-index and category-free net reclassification improvement (cfNRI) were utilized to evaluate additive prognostic value.

Results

In 46 patients with ACC, cyclin B1, transferrin receptor (TfR1), and fibronectin were significantly overexpressed in patients with distant metastasis. In multivariate models, high expression of cyclin B1 and TfR1 was significantly associated with mortality (hazard ratio [HR], 6.13; 95% confidence interval [CI], 1.02 to 36.7; and HR, 6.59; 95% CI, 1.14 to 38.2; respectively), whereas high fibronectin expression was not (HR, 3.92; 95% CI, 0.75 to 20.4). Combinations of high cyclin B1/high TfR1, high cyclin B1/high fibronectin, and high TfR1/high fibronectin were strongly associated with mortality ([HR, 13.72; 95% CI, 1.89 to 99.66], [HR, 9.22; 95% CI, 1.34 to 63.55], and [HR, 18.59; 95% CI, 2.54 to 135.88], respectively). In reclassification analyses, cyclin B1, TfR1, fibronectin, and combinations thereof improved the prognostic performance (C-index, 0.78 to 0.82–0.86; cfNRI, all P values <0.05).

Conclusion

In ACC patients, the overexpression of cyclin B1, TfR1, and fibronectin and combinations thereof were associated with poor prognosis.

Citations

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Nour Abou Nader, Étienne Blais, Guillaume St-Jean, Derek Boerboom, Gustavo Zamberlam, Alexandre Boyer
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Clinical Study
Epidemiology and Prognosis of Pheochromocytoma/Paraganglioma in Korea: A Nationwide Study Based on the National Health Insurance Service: Jung Hee Kim, Hyemi Moon, Junghyun Noh, Juneyoung Lee, Sin Gon Kim; Endocrinol Metab. 2020;35(1):157-164. Published online March 19, 2020; DOI: https://doi.org/10.3803/EnM.2020.35.1.157

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Background

Pheochromocytomas and paragangliomas (PPGLs) are rare endocrine tumors originating from chromaffin cells. PPGLs are associated with a high mortality rate and several complications. To date, no epidemiological studies have been conducted on PPGLs in Asia. This study aimed to investigate the epidemiology and prognosis of PPGLs in Korea using nationwide data.

Methods

Using the National Health Insurance Service Database, subjects with a principal diagnosis of PPGLs on two or more occasions between 2003 and 2014 who satisfied the operational definition of PPGLs were included. Incidence, prevalence, complications, metastasis, and mortality were investigated.

Results

In total, 1048 subjects with a mean age of 47.6±16.1 years were included. There was no sex preponderance. The overall prevalence of PPGLs was 2.13 per 100,000 persons, and the overall age-standardized incidence rate was 0.18 per 100,000 person-years. Malignant PPGLs accounted for 17.7% (185 of 1,048) of cases, and 94 subjects exhibited metastasis at the time of diagnosis. Among initially non-metastatic PPGLs, 9.5% (nine of 954) eventually metastasized after a mean duration of 78.1±41.4 months. The 5-year survival rates for non-metastatic and metastatic PPGLs at diagnosis were 97% and 84%, respectively. Multivariable Cox regression models adjusted for covariates showed that metastatic PPGLs were associated with a 2.40-fold higher risk of mortality than non-metastatic PPGLs (95% confidence interval, 1.38 to 4.17; P=0.002).

Conclusion

PPGLs are rare in Korea, and the prognosis of these endocrine tumors varies depending on whether they are benign or malignant. This epidemiological study paves the way for further research on PPGLs.

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Endocrine Research
Transcriptome Analysis Identifies an Attenuated Local Immune Response in Invasive Nonfunctioning Pituitary Adenomas: Yong Hwy Kim, Jung Hee Kim; Endocrinol Metab. 2019;34(3):314-322. Published online September 26, 2019; DOI: https://doi.org/10.3803/EnM.2019.34.3.314; Correction in: Endocrinol Metab 2020;35(4):965

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Background

Invasive nonfunctioning pituitary adenomas (NFPAs) remain challenging due to their high complication rate and poor prognosis. We aimed to identify the distinctive molecular signatures of invasive NFPAs, compared with noninvasive NFPAs, using gene expression profiling by RNA sequencing.

Methods

We obtained frozen fresh tissue samples from 14 patients with NFPAs who underwent primary transsphenoidal surgery. Three non-invasive and 11 invasive NFPAs were used for RNA sequencing. The bioinformatics analysis included differential gene expression, gene ontology analysis, and pathway analysis.

Results

A total of 700 genes were differentially expressed (59 up-regulated and 641 down-regulated genes) between invasive and non-invasive NFPAs (false discovery rate <0.1, and |fold change| ≥2). Using the down-regulated genes in invasive NFPAs, gene ontology enrichment analyses and pathway analyses demonstrated that the local immune response was attenuated and that transforming growth factor-β (TGF-β) RII-initiated TGF-β signaling was down-regulated in invasive NFPAs. The overexpression of claudin-9 (CLDN9) and the down-regulation of insulin-like growth factor-binding protein 5 (IGFBP5), death-associated protein kinase 1 (DAPK1), and tissue inhibitor of metalloproteinase-3 (TIMP3) may be related with invasiveness in NFPAs.

Conclusion

Invasive NFPAs harbor different gene expression profiles relative to noninvasive NFPAs. In particular, local suppression of the immune response and TGF-β signaling can make PAs prone to invasiveness.

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Hypothalamus and Pituitary gland
Medical Treatment with Somatostatin Analogues in Acromegaly: Position Statement: Sang Ouk Chin, Cheol Ryong Ku, Byung Joon Kim, Sung-Woon Kim, Kyeong Hye Park, Kee Ho Song, Seungjoon Oh, Hyun Koo Yoon, Eun Jig Lee, Jung Min Lee, Jung Soo Lim, Jung Hee Kim, Kwang Joon Kim, Heung Yong Jin, Dae Jung Kim, Kyung Ae Lee, Seong-Su Moon, Dong Jun Lim, Dong Yeob Shin, Se Hwa Kim, Min Jeong Kwon, Ha Young Kim, Jin Hwa Kim, Dong Sun Kim, Chong Hwa Kim; Endocrinol Metab. 2019;34(1):53-62. Published online March 21, 2019; DOI: https://doi.org/10.3803/EnM.2019.34.1.53

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The Korean Endocrine Society (KES) published clinical practice guidelines for the treatment of acromegaly in 2011. Since then, the number of acromegaly cases, publications on studies addressing medical treatment of acromegaly, and demands for improvements in insurance coverage have been dramatically increasing. In 2017, the KES Committee of Health Insurance decided to publish a position statement regarding the use of somatostatin analogues in acromegaly. Accordingly, consensus opinions for the position statement were collected after intensive review of the relevant literature and discussions among experts affiliated with the KES, and the Korean Neuroendocrine Study Group. This position statement includes the characteristics, indications, dose, interval (including extended dose interval in case of lanreotide autogel), switching and preoperative use of somatostatin analogues in medical treatment of acromegaly. The recommended approach is based on the expert opinions in case of insufficient clinical evidence, and where discrepancies among the expert opinions were found, the experts voted to determine the recommended approach.

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Hydrogel-fiber-mesh-based 3D cell cultures: A new method for studying pituitary tumors
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Differential gene expression and pathway analysis in growth hormone-secreting pituitary tumors according to granulation pattern
Kyungwon Kim, Yeongmin Kim, Se Hoon Kim, Ju Hyung Moon, Eui Hyun Kim, Eun Jig Lee, Chang-Myung Oh, Cheol Ryong Ku
Frontiers in Oncology.2024;[Epub] CrossRef
Agonists, Antagonists and Receptors of Somatostatin: Pathophysiological and Therapeutical Implications in Neoplasias
Argyrios Periferakis, Georgios Tsigas, Aristodemos-Theodoros Periferakis, Carla Mihaela Tone, Daria Alexandra Hemes, Konstantinos Periferakis, Lamprini Troumpata, Ioana Anca Badarau, Cristian Scheau, Ana Caruntu, Ilinca Savulescu-Fiedler, Constantin Carun
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Diagnosis and Management of Acromegaly: A Consensus Statement of the Pituitary Study Group of the Portuguese Society of Endocrinology, Diabetes and Metabolism
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Acromegaly: Pitfalls in diagnosis and treatment
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Revisiting the usefulness of the short acute octreotide test to predict treatment outcomes in acromegaly
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International Journal of Thyroidology.2022; 15(1): 1. CrossRef
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Approach of Acromegaly during Pregnancy
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Medical Treatment with Somatostatin Analogues in Acromegaly: Position Statement
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The Korean Journal of Medicine.2019; 94(6): 485. CrossRef

Adrenal gland
An Ectopic Cortisol-Producing Adrenocortical Adenoma Masquerading as a Liposarcoma in the Pararenal Space: Sunyoung Kang, Seung Shin Park, Jae Hyun Bae, Kyu Eun Lee, Jung Hee Kim, Chan Soo Shin; Endocrinol Metab. 2018;33(3):423-424. Published online August 14, 2018; DOI: https://doi.org/10.3803/EnM.2018.33.3.423

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Body Weight Changes in Obese Women and Menstruation: Jung Hee Kim; Endocrinol Metab. 2017;32(2):219-220. Published online June 23, 2017; DOI: https://doi.org/10.3803/EnM.2017.32.2.219

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Clinical Study
Obesity and Hyperglycemia in Korean Men with Klinefelter Syndrome: The Korean Endocrine Society Registry: Seung Jin Han, Kyung-Soo Kim, Wonjin Kim, Jung Hee Kim, Yong-ho Lee, Ji Sun Nam, Ji A Seo, Bu Kyung Kim, Jihyun Lee, Jin Ook Chung, Min-Hee Kim, Tae-Seo Sohn, Han Seok Choi, Seong Bin Hong, Yoon-Sok Chung; Endocrinol Metab. 2016;31(4):598-603. Published online December 20, 2016; DOI: https://doi.org/10.3803/EnM.2016.31.4.598

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Background

The aim of this study was to investigate the prevalence of obesity in Korean men with Klinefelter syndrome (KS) and the associated risk factors for obesity and hyperglycemia.

Methods

Data were collected retrospectively from medical records from 11 university hospitals in Korea between 1994 and 2014. Subjects aged ≥18 years with newly diagnosed KS were enrolled. The following parameters were recorded at baseline before treatment: chief complaint, height, weight, fasting glucose level, lipid panel, blood pressure, testosterone, luteinizing hormone, follicle-stimulating hormone, karyotyping patterns, and history of hypertension, diabetes, and dyslipidemia.

Results

Data were analyzed from 376 of 544 initially enrolled patients. The rate of the 47 XXY chromosomal pattern was 94.1%. The prevalence of obesity (body mass index ≥25 kg/m²) in Korean men with KS was 42.6%. The testosterone level was an independent risk factor for obesity and hyperglycemia.

Conclusion

Obesity is common in Korean men with KS. Hypogonadism in patients with KS was associated with obesity and hyperglycemia.

Citations

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Male Hypogonadism: The Korean Society of Men's Health and Aging Position Statement
Sun Tae Ahn, Young-Sang Kim, Sung Hoon Yu, Yoon-Sok Chung
The World Journal of Men's Health.2025;[Epub] CrossRef
New Horizons in Klinefelter Syndrome: Current Evidence, Gaps, and Research Priorities
Angela K Lucas-Herald, Lise Aksglaede, Ida Dyhr Caspersen, S Faisal Ahmed, Francesco Carlomagno, Andrea M Isidori
Endocrine Reviews.2025;[Epub] CrossRef
A dual-center study of predictive factors for sperm retrieval through microdissection testicular sperm extraction and intracytoplasmic sperm injection outcomes in men with non-mosaic Klinefelter syndrome
Jong Hyeun Baeck, Tae Jin Kim, Tae Heon Kim, Seung-Ryeol Lee, Dong Soo Park, Hwang Kwon, Ji Eun Shin, Dong Hyeon Lee, Young Dong Yu
Investigative and Clinical Urology.2023; 64(1): 41. CrossRef
Cardiorespiratory fitness in adolescents and young adults with Klinefelter syndrome – a pilot study
Julia Spiekermann, Kathrin Sinningen, Beatrice Hanusch, Michaela Kleber, Michael M. Schündeln, Cordula Kiewert, Heide Siggelkow, Jakob Höppner, Corinna Grasemann
Frontiers in Endocrinology.2023;[Epub] CrossRef
Metabolic Profile in a Cohort of Young Sicilian Patients with Klinefelter’s Syndrome: The Role of Irisin
Stefano Radellini, Valentina Guarnotta, Vincenzo Sciabica, Giuseppe Pizzolanti, Carla Giordano, Vito Angelo Giagulli
International Journal of Endocrinology.2022; 2022: 1. CrossRef
Metabolic and Nutritional Aspects in Paediatric Patients with Klinefelter Syndrome: A Narrative Review
Chiara Mameli, Giulia Fiore, Arianna Sangiorgio, Marta Agostinelli, Giulia Zichichi, Gianvincenzo Zuccotti, Elvira Verduci
Nutrients.2022; 14(10): 2107. CrossRef
Klinefelter syndrome in an adolescent with severe obesity, insulin resistance, and hyperlipidemia, successfully treated with testosterone replacement therapy
Shota Fukuhara, Jun Mori, Hisakazu Nakajima
Clinical Pediatric Endocrinology.2021; 30(3): 127. CrossRef
Glucose metabolic disorder in Klinefelter syndrome: a retrospective analysis in a single Chinese hospital and literature review
Shixuan Liu, Tao Yuan, Shuoning Song, Shi Chen, Linjie Wang, Yong Fu, Yingyue Dong, Yan Tang, Weigang Zhao
BMC Endocrine Disorders.2021;[Epub] CrossRef
What Every Internist-Endocrinologist Should Know about Rare Genetic Syndromes in Order to Prevent Needless Diagnostics, Missed Diagnoses and Medical Complications: Five Years of ‘Internal Medicine for Rare Genetic Syndromes’
Anna G. W. Rosenberg, Minke R. A. Pater, Karlijn Pellikaan, Kirsten Davidse, Anja A. Kattentidt-Mouravieva, Rogier Kersseboom, Anja G. Bos-Roubos, Agnies van Eeghen, José M. C. Veen, Jiske J. van der Meulen, Nina van Aalst-van Wieringen, Franciska M. E. H
Journal of Clinical Medicine.2021; 10(22): 5457. CrossRef
Klinefelter Syndrome and Diabetes
Mark J. O’Connor, Emma A. Snyder, Frances J. Hayes
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Endocrine aspects of Klinefelter syndrome
Adriana Herrera Lizarazo, Michelle McLoughlin, Maria G. Vogiatzi
Current Opinion in Endocrinology, Diabetes & Obesity.2019; 26(1): 60. CrossRef
Sex differences in metabolism and cardiometabolic disorders
Karthickeyan Chella Krishnan, Margarete Mehrabian, Aldons J. Lusis
Current Opinion in Lipidology.2018; 29(5): 404. CrossRef
Klinefelter Syndrome: Integrating Genetics, Neuropsychology, and Endocrinology
Claus H Gravholt, Simon Chang, Mikkel Wallentin, Jens Fedder, Philip Moore, Anne Skakkebæk
Endocrine Reviews.2018; 39(4): 389. CrossRef
Sex differences in obesity, lipid metabolism, and inflammation—A role for the sex chromosomes?
Temeka Zore, Maria Palafox, Karen Reue
Molecular Metabolism.2018; 15: 35. CrossRef
Klinefelter syndrome, insulin resistance, metabolic syndrome, and diabetes: review of literature and clinical perspectives
Andrea Salzano, Roberta D’Assante, Liam M. Heaney, Federica Monaco, Giuseppe Rengo, Pietro Valente, Daniela Pasquali, Eduardo Bossone, Daniele Gianfrilli, Andrea Lenzi, Antonio Cittadini, Alberto M. Marra, Raffaele Napoli
Endocrine.2018; 61(2): 194. CrossRef
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A. Yamaguchi, P. Knoblovits
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Won-Young Lee
Endocrinology and Metabolism.2017; 32(1): 62. CrossRef
Sex differences in obesity: X chromosome dosage as a risk factor for increased food intake, adiposity and co-morbidities
Karen Reue
Physiology & Behavior.2017; 176: 174. CrossRef
Klinefelter Syndrome with Morbid Obesity Before Bariatric Surgery: A Case Report
Parisa Janmohammadi, Gholamreza Mohammadi-Farsani, Hana Arghavani, Mahmoud Arshad, Tayebeh Mokhber
Journal of Minimally Invasive Surgical Sciences.2017;[Epub] CrossRef
Klinefelter Syndrome and Metabolic Disorder
Ji Cheol Bae
Endocrinology and Metabolism.2016; 31(4): 535. CrossRef

Clinical Study
Diagnostic Role of Captopril Challenge Test in Korean Subjects with High Aldosterone-to-Renin Ratios: Jung Hee Kim, Kyeong Seon Park, A Ram Hong, Chan Soo Shin, Seong Yeon Kim, Sang Wan Kim; Endocrinol Metab. 2016;31(2):277-283. Published online May 13, 2016; DOI: https://doi.org/10.3803/EnM.2016.31.2.277

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Background

Diagnosis of primary aldosteronism (PA) begins with aldosterone-to-renin ratio (ARR) measurement followed by confirmative tests. However, the ARR has high false positive rates which led to unnecessary confirmatory tests. Captopril challenge test (CCT) has been used as one of confirmatory tests, but the accuracy of it in the diagnosis of PA is still controversial. We aimed to examine the clinical efficacy of CCT as a post-screening test in PA.

Methods

In a prospective study, we enrolled subjects with suspected PA who had hypertension and ARR >20 (ng/dL)/(ng/mL/hr). Sixty-four patients who underwent both the saline infusion test and the CCT were included.

Results

The diagnostic performance of plasma aldosterone concentration (PAC) post-CCT was greater than that of ARR post-CCT and ARR pre-CCT in PA (area under the curve=0.956, 0.797, and 0.748, respectively; P=0.001). A cut-off value of 13 ng/dL showed the highest diagnostic odds ratio considering PAC post-CCT at 60 and 90 minutes. A PAC post-CCT of 19 ng/dL had a specificity of 100%, which can be used as a cut-off value for the confirmative test. Determining the diagnostic performance of PAC post-CCT at 90 minutes was sufficient for PA diagnosis. Subjects with PAC post-CCT at 90 minutes <13 ng/dL are less likely to have PA, and those with PAC post-CCT at 90 minutes ≥13 but <19 ng/dL should undergo secondary confirmatory tests.

Conclusion

The CCT test may be a reliable post-screening test to avoid the hospitalization in the setting of falsely elevated ARR screening tests.

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Captopril's influence on Danio rerio embryonic development: Unveiling significant toxic outcomes at environmentally relevant concentrations
Fernando García-Valdespino, Gustavo Axel Elizalde-Velázquez, Selene Elizabeth Herrera-Vázquez, Leobardo Manuel Gómez-Oliván
Science of The Total Environment.2024; 933: 173179. CrossRef
Comparison of four confirmatory tests for the diagnosis of primary aldosteronism: Bayesian analysis in the absence of a gold standard
Hang Shen, Wenjin Luo, Jinbo Hu, Jun Yang, Ying Song, Xiangjun Chen, Yi Yang, Linqiang Ma, Qingfeng Cheng, Zhihong Wang, Qifu Li, Shumin Yang, Qifu Li, Ying Song, Shumin Yang, Wenwen He, Mei Mei, Jinbo Hu, Suxin Luo, Kangla Liao, Yao Zhang, Yunfeng He, Yi
Endocrine.2024; 85(3): 1417. CrossRef
Exclusion Tests in Unilateral Primary Aldosteronism (ExcluPA) Study
Rui Zhu, Tungalagtamir Shagjaa, Giacomo Rossitto, Brasilina Caroccia, Teresa Maria Seccia, Dario Gregori, Gian Paolo Rossi
The Journal of Clinical Endocrinology & Metabolism.2023; 108(2): 496. CrossRef
Captopril challenge test in the diagnosis of primary aldosteronism: consistency between 1- and 2- h sampling
Xinyu Liu, Chao Guo, Jin Bian, Sufang Hao, Ying Lou, Huimin Zhang, Xianliang Zhou, Jun Cai, Wenjun Ma
Frontiers in Endocrinology.2023;[Epub] CrossRef
Performance of Confirmatory Tests for Diagnosing Primary Aldosteronism: a Systematic Review and Meta-Analysis
Alexander A. Leung, Christopher J. Symonds, Gregory L. Hundemer, Paul E. Ronksley, Diane L. Lorenzetti, Janice L. Pasieka, Adrian Harvey, Gregory A. Kline
Hypertension.2022; 79(8): 1835. CrossRef
Baseline Plasma Aldosterone Level and Renin Activity Allowing Omission of Confirmatory Testing in Primary Aldosteronism
Junji Kawashima, Eiichi Araki, Mitsuhide Naruse, Isao Kurihara, Katsutoshi Takahashi, Kouichi Tamura, Hiroki Kobayashi, Shintaro Okamura, Shozo Miyauchi, Koichi Yamamoto, Shoichiro Izawa, Tomoko Suzuki, Akiyo Tanabe
The Journal of Clinical Endocrinology & Metabolism.2020; 105(5): e1990. CrossRef
The number of positive confirmatory tests is associated with the clinical presentation and incidence of cardiovascular and cerebrovascular events in primary aldosteronism
Aya Saiki, Daisuke Tamada, Reiko Hayashi, Kosuke Mukai, Tetsuhiro Kitamura, Mitsuyoshi Takahara, Michio Otsuki, Iichiro Shimomura
Hypertension Research.2019; 42(8): 1186. CrossRef
The characteristics of captopril challenge test–positive patients using various criteria
Satoshi Kidoguchi, Naoki Sugano, Naomi Hayashi-Ishikawa, Norihiko Morisawa, Goro Tokudome, Takashi Yokoo
Journal of the Renin-Angiotensin-Aldosterone System.2019;[Epub] CrossRef
Confirmatory tests for the diagnosis of primary aldosteronism: A systematic review and meta‐analysis
Sicen Wu, Jun Yang, Jinbo Hu, Ying Song, Wenwen He, Shumin Yang, Rong Luo, Qifu Li
Clinical Endocrinology.2019; 90(5): 641. CrossRef
The captopril challenge test for diagnosing primary Aldosteronism in a Chinese population
Ke-ying Zhu, Yan Zhang, Wen-jing Zhang, Hong-yun Li, Wen-huan Feng, Da-long Zhu, Ping Li
BMC Endocrine Disorders.2019;[Epub] CrossRef
Confirmatory Tests for the Diagnosis of Primary Aldosteronism
Ying Song, Shumin Yang, Wenwen He, Jinbo Hu, Qingfeng Cheng, Yue Wang, Ting Luo, Linqiang Ma, Qianna Zhen, Suhua Zhang, Mei Mei, Zhihong Wang, Hua Qing, Dennis Bruemmer, Bin Peng, Qifu Li
Hypertension.2018; 71(1): 118. CrossRef
Evaluation of the Saline Infusion Test and the Captopril Challenge Test in Chinese Patients With Primary Aldosteronism
Xiao Meng, Yanyan Li, Xiaohao Wang, Jianwei Li, Yuping Liu, Yerong Yu
The Journal of Clinical Endocrinology & Metabolism.2018; 103(3): 853. CrossRef
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Won-Young Lee
Endocrinology and Metabolism.2017; 32(1): 62. CrossRef
Optimal follow-up strategies for adrenal incidentalomas: reappraisal of the 2016 ESE-ENSAT guidelines in real clinical practice
A Ram Hong, Jung Hee Kim, Kyeong Seon Park, Kyong Young Kim, Ji Hyun Lee, Sung Hye Kong, Seo Young Lee, Chan Soo Shin, Sang Wan Kim, Seong Yeon Kim
European Journal of Endocrinology.2017; 177(6): 475. CrossRef
Agkihpin, a novel SVTLE from Gloydius halys Pallas, promotes platelet aggregation in vitro and inhibits thrombus formation in vivo in murine models of thrombosis
Huiqiong Xie, Miao Huang, Qiping Hu, Kejian Sun, Huayu Wu, Wei Shu, Xiaolong Li, Ling Fang
Toxicon.2016; 122: 78. CrossRef

Clinical Study
Radiographic Characteristics of Adrenal Masses in Oncologic Patients: Ji Hyun Lee, Eun Ky Kim, A Ram Hong, Eun Roh, Jae Hyun Bae, Jung Hee Kim, Chan Soo Shin, Seong Yeon Kim, Sang Wan Kim; Endocrinol Metab. 2016;31(1):147-152. Published online March 16, 2016; DOI: https://doi.org/10.3803/EnM.2016.31.1.147

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Background

We aimed to assess the usefulness of pre-contrast Hounsfield unit (HU) and mass size on computed tomography to differentiate adrenal mass found incidentally in oncologic patients.

Methods

From 2000 to 2012, 131 oncologic patients with adrenal incidentaloma were reviewed retrospectively. Receiver operating characteristic (ROC) curves were applied to determine the optimal cut-off value of the mean HU and size for detecting adrenal metastasis.

Results

The median age was 18 years, and 80 patients were male. The initial mass size was 18 mm, and 71 (54.2%) of these were on the left side. A bilateral adrenal mass was found in 11 patients (8.4%). Biochemically functional masses were observed in 9.2% of patients. Thirty-six out of 119 patients with nonfunctional masses underwent adrenalectomy, which revealed metastasis in 13. The primary cancers were lung cancer (n=4), renal cell carcinoma (n=2), lymphoma (n=2), hepatocellular carcinoma (n=2), breast cancer (n=1), and others (n=2). The area under the curve for the size and HU for clinically suspicious metastasis were 0.839 (95% confidence interval [CI], 0.761 to 0.900; P<0.001) and 0.959 (95% CI, 0.898 to 0.988; P<0.001), respectively. The cut-off value to distinguish between metastasis and benign masses were 22 mm for size and 20 for HU.

Conclusion

ROC curve results suggest that pre-contrast HU >20 can be used as a diagnostic reference to suggest metastasis in oncologic patients with adrenal masses.

Citations

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Optimal follow-up strategies for adrenal incidentalomas: reappraisal of the 2016 ESE-ENSAT guidelines in real clinical practice
A Ram Hong, Jung Hee Kim, Kyeong Seon Park, Kyong Young Kim, Ji Hyun Lee, Sung Hye Kong, Seo Young Lee, Chan Soo Shin, Sang Wan Kim, Seong Yeon Kim
European Journal of Endocrinology.2017; 177(6): 475. CrossRef

Adrenal gland
Limited Diagnostic Utility of Plasma Adrenocorticotropic Hormone for Differentiation between Adrenal Cushing Syndrome and Cushing Disease: A Ram Hong, Jung Hee Kim, Eun Shil Hong, I Kyeong Kim, Kyeong Seon Park, Chang Ho Ahn, Sang Wan Kim, Chan Soo Shin, Seong Yeon Kim; Endocrinol Metab. 2015;30(3):297-304. Published online August 4, 2015; DOI: https://doi.org/10.3803/EnM.2015.30.3.297

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Background

Measurement of the plasma adrenocorticotropic hormone (ACTH) level has been recommended as the first diagnostic test for differentiating between ACTH-independent Cushing syndrome (CS) and ACTH-dependent CS. When plasma ACTH values are inconclusive, a differential diagnosis of CS can be made based upon measurement of the serum dehydroepiandrosterone sulfate (DHEA-S) level and results of the high-dose dexamethasone suppression test (HDST). The aim of this study was to assess the utility of plasma ACTH to differentiate adrenal CS from Cushing' disease (CD) and compare it with that of the HDST results and serum DHEA-S level.

Methods

We performed a retrospective, multicenter study from January 2000 to May 2012 involving 92 patients with endogenous CS. The levels of plasma ACTH, serum cortisol, 24-hour urine free cortisol (UFC) after the HDST, and serum DHEA-S were measured.

Results

Fifty-seven patients had adrenal CS and 35 patients had CD. The area under the curve of plasma ACTH, serum DHEA-S, percentage suppression of serum cortisol, and UFC after HDST were 0.954, 0.841, 0.950, and 0.997, respectively (all P<0.001). The cut-off values for plasma ACTH, percentage suppression of serum cortisol, and UFC after HDST were 5.3 pmol/L, 33.3%, and 61.6%, respectively. The sensitivity and specificity of plasma ACTH measurement were 84.2% and 94.3%, those of serum cortisol were 95.8% and 90.6%, and those of UFC after the HDST were 97.9% and 96.7%, respectively.

Conclusion

Significant overlap in plasma ACTH levels was seen between patients with adrenal CS and those with CD. The HDST may be useful in differentiating between these forms of the disease, especially when the plasma ACTH level alone is not conclusive.

Citations

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Development of diagnostic algorithm for Cushing’s syndrome: a tertiary centre experience
A. Efthymiadis, H. Loo, B. Shine, T. James, B. Keevil, J. W. Tomlinson, A. Pal, R. Pofi
Journal of Endocrinological Investigation.2024; 47(10): 2449. CrossRef
Eurasian clinical guidelines for the diagnosis and treatment of secondary (symptomatic) forms of arterial hypertension (2022)
I. E. Chazova, N. M. Chikhladze, N. V. Blinova, Zh. E. Belaya, N. M. Danilov, E. M. Elfimova, A. Yu. Litvin, L. Ya. Rozhinskaya, N. Yu. Sviridenko, M. Yu. Shvetsov, V. A. Azizov, E. A. Grigorenko, N. P. Mit’kovskaja, I. I. Mustafaev, A. G. Polupanov, A. S
Eurasian heart journal.2023; (1): 6. CrossRef
Diagnosis and Management of Pituitary Adenomas
Nicholas A. Tritos, Karen K. Miller
JAMA.2023; 329(16): 1386. CrossRef
Distinct serum steroid profiles between adrenal Cushing syndrome and Cushing disease
Chang Gao, Li Ding, Xiaona Zhang, Menghua Yuan, Shaofang Tang, Wei Li, Yuanyuan Ye, Ming Liu, Qing He
Frontiers in Endocrinology.2023;[Epub] CrossRef
The Importance of DHEA-S Levels in Cushing’s Syndrome; Is There a Cut-off Value in the Differential Diagnosis?
Sema Ciftci, Ozlem Soyluk, Alev Selek, Selvinaz Erol, Zeliha Hekimsoy, Ayse Esen, Huseyin Dursun, Serdar Sahin, Gonca Oruk, Meral Mert, Huseyin Soylu, Banu Sarer Yurekli, Melek Eda Ertorer, Tulay Omma, Mehtap Evran, Mine Adas, Seher Tanrikulu, Kadriye Ayd
Hormone and Metabolic Research.2022; 54(04): 232. CrossRef
Epidemiology and Comorbidity of Adrenal Cushing Syndrome: A Nationwide Cohort Study
Chang Ho Ahn, Jung Hee Kim, Man Young Park, Sang Wan Kim
The Journal of Clinical Endocrinology & Metabolism.2021; 106(3): e1362. CrossRef
Metabolic changes in serum steroids for diagnosing and subtyping Cushing’s syndrome
Chang Ho Ahn, Chaelin Lee, Jaeyoon Shim, Sung Hye Kong, Su-jin Kim, Yong Hwy Kim, Kyu Eun Lee, Chan Soo Shin, Jung Hee Kim, Man Ho Choi
The Journal of Steroid Biochemistry and Molecular Biology.2021; 210: 105856. CrossRef
Clinical and Molecular Characteristics of PRKACA L206R Mutant Cortisol-Producing Adenomas in Korean Patients
Insoon Jang, Su-jin Kim, Ra-Young Song, Kwangsoo Kim, Seongmin Choi, Jang-Seok Lee, Min-Kyeong Gwon, Moon Woo Seong, Kyu Eun Lee, Jung Hee Kim
Endocrinology and Metabolism.2021; 36(6): 1287. CrossRef
Clinical Parameters to Distinguish Silent Corticotroph Adenomas from Other Nonfunctioning Pituitary Adenomas
Daham Kim, Cheol Ryong Ku, Se Hee Park, Ju Hyung Moon, Eui Hyun Kim, Sun Ho Kim, Eun Jig Lee
World Neurosurgery.2018; 115: e464. CrossRef
Cushing's syndrome: a practical approach to diagnosis and differential diagnoses
Joseph M Pappachan, Christian Hariman, Mahamood Edavalath, Julian Waldron, Fahmy W Hanna
Journal of Clinical Pathology.2017; 70(4): 350. CrossRef

Obesity and Metabolism
Mitochondrial Complexes I and II Are More Susceptible to Autophagy Deficiency in Mouse β-Cells: Min Joo Kim, Ok Kyong Choi, Kyung Sil Chae, Min Kyeong Kim, Jung Hee Kim, Masaaki Komatsu, Keiji Tanaka, Hakmo Lee, Sung Soo Chung, Soo Heon Kwak, Young Min Cho, Kyong Soo Park, Hye Seung Jung; Endocrinol Metab. 2015;30(1):65-70. Published online March 27, 2015; DOI: https://doi.org/10.3803/EnM.2015.30.1.65

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Background

Damaged mitochondria are removed by autophagy. Therefore, impairment of autophagy induces the accumulation of damaged mitochondria and mitochondrial dysfunction in most mammalian cells. Here, we investigated mitochondrial function and the expression of mitochondrial complexes in autophagy-related 7 (Atg7)-deficient β-cells.

Methods

To evaluate the effect of autophagy deficiency on mitochondrial function in pancreatic β-cells, we isolated islets from Atg7^F/F:RIP-Cre+ mice and wild-type littermates. Oxygen consumption rate and intracellular adenosine 5'-triphosphate (ATP) content were measured. The expression of mitochondrial complex genes in Atg7-deficient islets and in β-TC6 cells transfected with siAtg7 was measured by quantitative real-time polymerase chain reaction.

Results

Baseline oxygen consumption rate of Atg7-deficient islets was significantly lower than that of control islets (P<0.05). Intracellular ATP content of Atg7-deficient islets during glucose stimulation was also significantly lower than that of control islets (P<0.05). By Oxygraph-2k analysis, mitochondrial respiration in Atg7-deficient islets was significantly decreased overall, although state 3 respiration and responses to antimycin A were unaffected. The mRNA levels of mitochondrial complexes I, II, III, and V in Atg7-deficient islets were significantly lower than in control islets (P<0.05). Down-regulation of Atg7 in β-TC6 cells also reduced the expression of complexes I and II, with marginal significance (P<0.1).

Conclusion

Impairment of autophagy in pancreatic β-cells suppressed the expression of some mitochondrial respiratory complexes, and may contribute to mitochondrial dysfunction. Among the complexes, I and II seem to be most vulnerable to autophagy deficiency.

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A Cholecystokinin Analogue Ameliorates Cognitive Deficits and Regulates Mitochondrial Dynamics via the AMPK/Drp1 Pathway in APP/PS1 Mice
L. Hao, M. Shi, J. Ma, S. Shao, Y. Yuan, J. Liu, Z. Yu, Zhenqiang Zhang, Christian Hölscher, Zijuan Zhang
The Journal of Prevention of Alzheimer's Disease.2024; 11(2): 382. CrossRef
Proteomic pathways to metabolic disease and type 2 diabetes in the pancreatic islet
Belinda Yau, Sheyda Naghiloo, Alexis Diaz-Vegas, Austin V. Carr, Julian Van Gerwen, Elise J. Needham, Dillon Jevon, Sing-Young Chen, Kyle L. Hoehn, Amanda E. Brandon, Laurence Macia, Gregory J. Cooney, Michael R. Shortreed, Lloyd M. Smith, Mark P. Keller,
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Natural compound oblongifolin C inhibits autophagic flux, and induces apoptosis and mitochondrial dysfunction in human cholangiocarcinoma QBC939 cells
Aiqing Zhang, Wei He, Huimin Shi, Xiaodan Huang, Guozhong Ji
Molecular Medicine Reports.2016; 14(4): 3179. CrossRef
Autophagy deficiency in β cells blunts incretin-induced suppression of glucagon release from α cells
Min Joo Kim, Ok Kyong Choi, Kyung Sil Chae, Hakmo Lee, Sung Soo Chung, Dong-Sik Ham, Ji-Won Kim, Kun-Ho Yoon, Kyong Soo Park, Hye Seung Jung
Islets.2015; 7(5): e1129096. CrossRef

Adrenal gland
Clinical Guidelines for the Diagnosis and Treatment of Cushing's Disease in Korea: Kyu Yeon Hur, Jung Hee Kim, Byung Joon Kim, Min-Seon Kim, Eun Jig Lee, Sung-Woon Kim; Endocrinol Metab. 2015;30(1):7-18. Published online March 27, 2015; DOI: https://doi.org/10.3803/EnM.2015.30.1.7

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Cushing's disease (CD) is a rare disorder characterized by the overproduction of adrenocorticotropic hormone due to a pituitary adenoma that ultimately stimulates excessive cortisol secretion from the adrenal glands. Prior to the detection of pituitary adenomas, various clinical signs of CD such as central obesity, moon face, hirsutism, and facial plethora are usually already present. Uncontrolled hypercortisolism is associated with metabolic, cardiovascular, and psychological disorders that result in increased mortality. Hence, the early detection and treatment of CD are not only important but mandatory. Because its clinical manifestations vary from patient to patient and are common in other obesity-related conditions, the precise diagnosis of CD can be problematic. Thus, the present set of guidelines was compiled by Korean experts in this field to assist clinicians with the screening, diagnoses, and treatment of patients with CD using currently available tests and treatment modalities.

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Pituitary adenomas: current principles of diagnosis and treatment
L. I. Astafyeva, I. V. Chernov, I. V. Chekhonin, E. I. Shults, I. N. Pronin, P. L. Kalinin
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Characterization of Incidentally Detected Adrenal Pheochromocytoma.: Ye An Kim, Yul Hwangbo, Min Joo Kim, Hyung Jin Choi, Je Hyun Seo, Yenna Lee, Soo Heun Kwak, Eu Jeong Ku, Tae Jung Oh, Eun Roh, Jae Hyun Bae, Jung Hee Kim, Kyoung Soo Park, Seong Yeon Kim; Endocrinol Metab. 2012;27(2):132-137. Published online June 20, 2012; DOI: https://doi.org/10.3803/EnM.2012.27.2.132

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BACKGROUND
In approach to an adrenal incidentaloma, early exclusion of pheochromocytoma is clinically important, due to the risk of catecholamine crisis. The aims of this study are to investigate the characteristics of incidentally detected pheochromocytomas, compared with that of the other adrenal incidentalomas, and to compare these characteristics with those of symptomatic pheochromocytomas. METHODS: In this retrospective study, we reviewed the medical records of 198 patients with adrenal incidentaloma from 2001 to 2010. We analyzed the clinical, laboratory and radiological data of pheochromocytomas, in comparison with those of the other adrenal incidentalomas. We also compared the characteristics of these incidentally detected pheochromocytomas with the medical records of 28 pathologically proven pheochromocytomas, diagnosed based on typical symptoms. RESULTS: Among the 198 patients with adrenal incidentaloma, nineteen patients were diagnosed with pheochromocytoma. Pheochromocytomas showed larger size and higher Hounsfield unit at precontrast computed tomography (CT) than did non-pheochromocytomas. All pheochromocytomas were larger than 2.0 cm, and the Hounsfield units were 19 or higher in precontrast CT. When both criteria of size > 2.0 cm and Hounsfield unit > 19 were met, the sensitivity and specificity for the diagnosis of pheochromocytoma were 100% and 79.3%, respectively. Compared with patients with pheochromocytoma, diagnosed based on typical symptoms, patients with incidentally detected pheochromocytoma were older, presented less often with hypertension, and showed lower levels of 24-hour urine metanephrine. CONCLUSION: Adrenal incidentaloma with < 2.0 cm in size or < or = 19 Hounsfield units in precontrast CT imaging was less likely to be a pheochromocytoma. Patients with incidentally discovered pheochromocytoma showed lower catecholamine metabolites, compared with those patients with symptomatic pheochromocytoma.

Citations

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Guidelines for the Management of Adrenal Incidentaloma: the Korean Endocrine Society, Committee of Clinical Practice Guidelines
Jung-Min Lee, Mee Kyoung Kim, Seung-Hyun Ko, Jung-Min Koh, Bo-Yeon Kim, Sang-Wan Kim, Soo-Kyung Kim, Hae-Jin Kim, Ohk-Hyun Ryu, Juri Park, Jung-Soo Lim, Seong Yeon Kim, Young Kee Shong, Soon Jib Yoo
The Korean Journal of Medicine.2017; 92(1): 4. CrossRef
Clinical Guidelines for the Management of Adrenal Incidentaloma
Jung-Min Lee, Mee Kyoung Kim, Seung-Hyun Ko, Jung-Min Koh, Bo-Yeon Kim, Sang Wan Kim, Soo-Kyung Kim, Hae Jin Kim, Ohk-Hyun Ryu, Juri Park, Jung Soo Lim, Seong Yeon Kim, Young Kee Shong, Soon Jib Yoo
Endocrinology and Metabolism.2017; 32(2): 200. CrossRef
Characterization of Incidentally Detected Adrenal Pheochromocytoma
Soon Jib Yoo, Woohyeon Kim
Endocrinology and Metabolism.2012; 27(2): 116. CrossRef

Primary Hyperaparathyroidism due to Cystic Parathyroid Adenoma not Detected on 99mTc-Sestamibi Scan.: Ah Reum Khang, Eun Ki Kim, Eun Young Nam, Sun Ju Byeon, Jung Hee Kim, Jung Hun Ohn, Eun Shil Hong, Hyung Jin Choi, Kyeong Cheon Jung, Myung Whun Sung, Chan Soo Shin, Kyong Soo Park, Seong Yeon Kim; Endocrinol Metab. 2012;27(1):83-88. Published online March 1, 2012; DOI: https://doi.org/10.3803/EnM.2012.27.1.83

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Abstract PDF

Parathyroid cysts, which can be divided into functional and non-functional cysts, are rare causes of primary hyperparathyroidism. A technetium-99m-methoxyisobutylisonitrile (99mTc-sestamibi) parathyroid scan is a sensitive diagnostic tool for the localization, although it sometimes shows a false-negative result. Here we report a case of presumed cystic parathyroid adenoma based on clinical findings and analysis of cystic fluid with negative findings in a parathyroid scan. A 44-year-old male patient visited the hospital due to leg pain and compressive symptoms (dysphagia, hoarseness) that had started 4-5 months before. His serum calcium level was 14.4 mg/dL and his intact parathyroid hormone (iPTH) had increased to 478.1 pg/mL. On neck computed tomography, a cystic nodule measuring 6.2 cm was detected in the inferior part of the right thyroid gland. Sestamibi uptake for this nodule was not detected on 2-h delayed imaging, and fluorodeoxyglucose positron emission tomography showed only subtle uptake. Fine-needle aspiration was performed and intracystic iPTH had increased to 61,600 pg/mL. Focused parathyroidectomy guided by intraoperative iPTH monitoring led to successful enucleation of the right inferior parathyroid gland. A parathyroid adenoma was confirmed, and his laboratory results had normalized. This study shows that cystic parathyroid adenoma can sometimes be difficult to detect on a 99mTc-sestamibi parathyroid scan.

Citations

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Functional parathyroid cystic adenoma: A rare cause of hypercalcemic crisis with primary hyperparathyroidism
BS Sumana, M Sabaretnam, Vijaya Sarathi, Akshatha Savith
Indian Journal of Pathology and Microbiology.2015; 58(4): 487. CrossRef
Normocalcemic primary hyperparathyroidism: long-term follow-up associated with multiple adenomas
Larissa Pimentel, Sirley Portela, Alyne Loureiro, Francisco Bandeira
Arquivos Brasileiros de Endocrinologia & Metabologia.2014; 58(5): 583. CrossRef

A Case Report of Bilateral Adrenocortical Carcinoma Complicated by Adrenal Insufficiency.: Min Joo Kim, Jung Hee Kim, Tae Young Kim, Sang Wan Kim; Endocrinol Metab. 2011;26(3):243-247. Published online September 1, 2011; DOI: https://doi.org/10.3803/EnM.2011.26.3.243

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Adrenocortical carcinoma is often functional and presents with signs and symptoms of adrenal steroid hormone excess. Adrenal insufficiency secondary to bilateral adrenocortical carcinoma is a particularly rare complication. We recently encountered a case of bilateral adrenocortical carcinoma complicated by adrenal insufficiency. A 52-year-old male was transferred to this hospital complaining of general weakness and weight loss. A bilateral adrenal mass was detected on abdomen CT. Plasma cortisol and aldosterone failed to rise during the rapid ACTH stimulation test. The CT-guided adrenal biopsy revealed findings consistent with adrenocortical carcinoma. Left hemiparesis was developed and brain metastasis was detected via brain MRI. Despite the application of gamma knife surgery and chemotherapy, the disease progressed and the patient died.

Citations

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Bilateral Adrenocortical Carcinoma Presenting as Acute Adrenal Insufficiency
Anshita Aggarwal, Aprajita Verma, Aparajita Roy, Bindu Kulshreshtha
European Endocrinology.2020; 16(2): 172. CrossRef
A Case of Bilateral ACTH-independent Adrenal Adenomas with Cushing's Syndrome Treated by Ipsilateral Total and Contralateral Partial Laparoscopic Adrenalectomy
Seung Ah Park, Dong min Jung, Soon young Kim, Nan Young Choi, Tae-jun Kim, Yong kyun Kim, Seong kyun Na, Chul Sik Kim, Seong Jin Lee, Sung-Hee Ihm, Jun Goo Kang
The Korean Journal of Obesity.2013; 22(4): 254. CrossRef

Association of the Parathyroid Adenoma Volume and the Biochemical Parameters in Primary Hyperparathyroidism.: Yul Hwang-Bo, Jung Hee Kim, Jee Hyun An, Eun Shil Hong, Jung Hun Ohn, Eun Ky Kim, Ah Reum Khang, Sun Wook Cho, Do Joon Park, Kyong Soo Park, Seong Yeon Kim, Bo Youn Cho, Chan Soo Shin; Endocrinol Metab. 2011;26(1):62-66. Published online March 1, 2011; DOI: https://doi.org/10.3803/EnM.2011.26.1.62

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Abstract PDF

BACKGROUND
The objective of this study is to demonstrate the relationship between the volume of a parathyroid adenoma and the preoperative biochemical parameters in patients undergoing surgery for primary hyperparathyroidism. METHODS: The medical records of 68 patients who underwent a parathyroidectomy for a single parathyroid adenoma were retrospectively reviewed. The volume of the adenoma was estimated using its measured size and a mathematical formula. The correlation between the volume of the parathyroid adenoma and the preoperative laboratory data was assessed. RESULTS: There were no correlations between the estimated volume of the adenoma and the serum calcium, alkaline phosphatase and parathyroid hormone levels. However, the volume of the adenoma was associated with the preoperative level of serum phosphorus. After excluding 5 adenomas with cystic degeneration, a positive correlation was noted between the adenoma volume and the preoperative levels of alkaline phosphatase and parathyroid hormone. CONCLUSION: The preoperative serum levels of calcium, alkaline phosphatase and parathyroid hormone are of limited use to predict the volume of the parathyroid adenoma in patients with a single parathyroid adenoma. We suggest that the absence of a correlation between the volume of the adenoma and the biochemical parameters can be attributed to the cystic degeneration of the adenomas.

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Differentiating pathologic parathyroid glands from thyroid nodules on neck ultrasound: the PARATH-US cross-sectional study
Dolly Yazgi, Carine Richa, Sylvie Salenave, Peter Kamenicky, Amel Bourouina, Lorraine Clavier, Margot Dupeux, Jean-François Papon, Jacques Young, Philippe Chanson, Luigi Maione
The Lancet Regional Health - Europe.2023; 35: 100751. CrossRef
Primer hiperparatiroidide Tc99m-MIBI sintigrafi sonuçlarının biyokimyasal ve histopatolojik bulgular ile ilişkisi
Seda TURGUT, Ezgi Başak ERDOĞAN
OSMANGAZİ JOURNAL OF MEDICINE.2020;[Epub] CrossRef
Letter: Association of the Parathyroid Adenoma Volume and the Biochemical Parameters in Primary Hyperparathyroidism (Endocrinol Metab 26:62-66, 2011, Yul Hwang-Bo et al.)
Dong Jin Chung
Endocrinology and Metabolism.2011; 26(2): 185. CrossRef

Clinical Characteristics of Langerhans Cell Histiocytosis with Hypothalamo-Pituitary Involvement.: Eun Shil Hong, Jung Hun Ohn, Jung Hee Kim, Yul Hwang-Bo, Jin Joo Kim, Jung Hee Kwon, Jung Won Lee, Se Youn Choi, Eun Kyung Lee, Sun Wook Cho, Chan Soo Shin, Kyong Soo Park, Hak Chul Jang, Bo Youn Cho, Hong Kyu Lee, Choong Ho Shin, Sei Won Yang, Seong Yeon Kim; Endocrinol Metab. 2011;26(1):38-43. Published online March 1, 2011; DOI: https://doi.org/10.3803/EnM.2011.26.1.38

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Abstract PDF

BACKGROUND
Langerhans cell histiocytosis (LCH) is a rare disease that involves a clonal proliferation of Langerhans cells. LCH has a predilection for hypothalamo-pituitary axis (HPA) dysfunction, and this leads to diabetes insipidus (DI) and/or anterior pituitary dysfunction. Here, we describe the endocrine dysfunction and clinical characteristics of adult patients with LCH and we analyzed the differences between an adult-onset type and a childhood-onset type. METHODS: The data was obtained from a retrospective chart review of the patients with LCH that involved the HPA and who attended Seoul National University Hospital. The patients were classified into the adult-onset type (age at the time of diagnosis > or = 16) and the childhood-onset type (age at the time of diagnosis < or = 15). RESULTS: Ten patients (9 males and 1 female) were diagnosed with LCH involving the HPA. Five patients were classified as an adultonset type and the other five patients were classified as a childhood-onset type. The median follow-up duration was 6 (3-12) years for the adult-onset type and 16 (15-22) years for the childhood-onset type. All the patients presented with DI as the initial manifestation of HPA involvement. Four adult-onset patients and three childhood-onset patients had a multi-system disease. Panhypopituitarism developed in three adult-onset patients and in one childhood-onset patient. The pituitary lesion of the three adult-onset patients had spread to the brain during the follow-up duration. In contrast, the pituitary lesion of the other two adult-onset patients without panhypopituitarism and all the childhood-onset patients had not changed. CONCLUSION: DI was the initial presentation symptom of HPA involvement. Anterior pituitary hormone deficiency followed in some patients. Compared with the childhood-onset patients, the adult-onset patients were more likely to have panhypopituitarism and a poor prognosis.

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Pulmonary Langerhans Cell Histiocytosis in an Adult Male Presenting with Central Diabetes Insipidus and Diabetes Mellitus: A Case Report
Yeun Seoung Choi, Jung Soo Lim, Woocheol Kwon, Soon-Hee Jung, Il Hwan Park, Myoung Kyu Lee, Won Yeon Lee, Suk Joong Yong, Seok Jeong Lee, Ye-Ryung Jung, Jiwon Choi, Ji Sun Choi, Joon Taek Jeong, Jin Sae Yoo, Sang-Ha Kim
Tuberculosis and Respiratory Diseases.2015; 78(4): 463. CrossRef
Adult Multisystem Langerhans Cell Histiocytosis Presenting with Central Diabetes Insipidus Successfully Treated with Chemotherapy
Jung-Eun Choi, Hae Ri Lee, Jung Hun Ohn, Min Kyong Moon, Juri Park, Seong Jin Lee, Moon-Gi Choi, Hyung Joon Yoo, Jung Han Kim, Eun-Gyoung Hong
Endocrinology and Metabolism.2014; 29(3): 394. CrossRef

A Case of Adrenal Insufficiency Associated with Antiphopholipid Syndrome with SLE.: Sun Hye Shin, Jung Hee Kim, Jung Min Son, Jeong Su Kim, Min Ah Na, Yang Ho Kang, Ok Nyu Kong, Seok Dong Yoo, Seok Man Son, In Ju Kim, Yong Ki Kim; J Korean Endocr Soc. 2004;19(5):542-545. Published online October 1, 2004

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Abstract PDF: Systemic lupus erythematosus (SLE) is autoimmune disease that often develops antiphopholipid syndrome (APS). Lupus anticoagulant and anticardiolipin antibodies are the hallmarks of APS. The hypercoagulable state in APS may lead to adrenal vein thrombosis, and subsquently lead to hemorrhagic necrosis of the adrenal gland. Adrenal hemorrhage is a very rare complication of APS. Although there have been some reports about adrenal hemorrhage associated with primary APS, adrenal hemorrhage associated secondary APS in SLE has not yet been reported. We describe the adrenal hemorrhage associated with secondary APS in SLE, and the patient which complained of general weakeness, nausea, vomiting and diffuse abdominal pain. Abdominal magnetic resonance imaging (MRI) showed hemorrhage, of both renal glands, and clinical features and immunological studies were consistent with APS in SLE. The acute adrenal insufficiency was much improved after the patient was treated with glucocorticoids

A case of bilateral adrenal cortical hyperplasia.: Jung Hee Kim, Jin Woo Kim, Young Seol Kim, Kwang Won Kim, Young Kil Choi; J Korean Endocr Soc. 1991;6(1):97-99. Published online January 1, 2001

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Abstract PDF: No abstract available.

Sex-Specific Cardiovascular Risks and Mortality in Patients with Panhypopituitarism: A Nationwide Cohort Study: Seung Shin Park, Hyunmook Jeong, Chang Ho Ahn, Min Jeong Park, Yong Hwy Kim, Kwangsoo Kim, Jung Hee Kim; Received September 12, 2024 Accepted December 16, 2024 Published online February 11, 2025; DOI: https://doi.org/10.3803/EnM.2024.2176 [Epub ahead of print]

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Abstract PDF Supplementary Material PubReader ePub: Background
Panhypopituitarism is a condition of combined deficiency of multiple pituitary hormones, which requires lifelong hormone replacement therapy. Hormone deficiency or inadequate hormone replacement may contribute to cardiovascular disease. Here, we aimed to investigate the burden of cardiovascular, cerebrovascular diseases and mortality in patients with panhypopituitarism.
Methods
A total of 5,714 patients with panhypopituitarism were enrolled in the Korean National Health Insurance Service database from 2003 to 2020. Panhypopituitarism was defined according to the International Classification of Diseases, 10th Revision (ICD- 10) codes for hypopituitarism, pituitary adenoma, or craniopharyngioma and the continuous prescription of thyroid hormone and glucocorticoids. The risks of all-cause mortality, coronary artery disease (CAD), heart failure (HF), ischemic stroke, and intracranial hemorrhage were compared between patients with panhypopituitarism and age-, sex-, and index year-matched controls.
Results
The mean age of patients with panhypopituitarism and matched controls was 55.1 years, and men accounted for 51.5%. Patients with panhypopituitarism showed significantly higher all-cause mortality compared to matched controls after adjustment for covariates (hazard ratio [HR], 2.18; 95% confidence interval [CI], 1.95 to 2.43 in men and HR, 3.09; 95% CI, 2.78 to 3.44 in women). Additionally, there were higher risks of CAD, HF, ischemic stroke, and intracranial hemorrhage in both sexes, except for CAD in men.
Conclusion
Patients with panhypopituitarism have elevated risks of cardiovascular and cerebrovascular diseases as well as increased mortality. These risks are particularly prominent for all-cause mortality in women. Therefore, proactive monitoring for cardiovascular and cerebrovascular complications is required in patients with panhypopituitarism.

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