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Kyoung Jin Kim  (Kim KJ) 11 Articles
Thyroid
Big Data Articles (National Health Insurance Service Database)
Unveiling Risk Factors for Treatment Failure in Patients with Graves’ Disease: A Nationwide Cohort Study in Korea
Jung A Kim, Kyeong Jin Kim, Jimi Choi, Kyoung Jin Kim, Eyun Song, Ji Hee Yu, Nam Hoon Kim, Hye Jin Yoo, Ji A Seo, Nan Hee Kim, Kyung Mook Choi, Sei Hyun Baik, Sin Gon Kim
Endocrinol Metab. 2025;40(1):125-134.   Published online January 13, 2025
DOI: https://doi.org/10.3803/EnM.2024.2093
  • 753 View
  • 61 Download
  • 1 Crossref
AbstractAbstract PDFSupplementary MaterialPubReader   ePub   
Background
Antithyroid drug (ATD) treatment is the preferred initial treatment for Graves’ disease (GD) in South Korea, despite higher treatment failure rates than radioactive iodine (RAI) therapy or thyroidectomy. This study aimed to evaluate the incidence of treatment failure associated with the primary modalities for GD treatment in real-world practice.
Methods
We included 452,001 patients diagnosed with GD between 2004 and 2020 from the Korean National Health Insurance Service-National Health Information Database. Treatment failure was defined as switching from ATD, RAI, or thyroidectomy treatments, and for ATD specifically, inability to discontinue medication for over 2 years.
Results
Mean age was 46.2 years, with females constituting 70.8%. Initial treatments for GD included ATDs (98.0%), thyroidectomy (1.3%), and RAI (0.7%), with a noted increment in ATD application from 96.2% in 2004 to 98.8% in 2020. During a median follow- up of 8.5 years, the treatment failure rates were 58.5% for ATDs, 21.3% for RAI, and 2.1% for thyroidectomy. Multivariate analysis indicated that the hazard ratio for treatment failure with ATD was 2.81 times higher than RAI. RAI treatments ≥10 mCi had 37% lower failure rates than doses <10 mCi.
Conclusion
ATDs are the most commonly used for GD in South Korea, followed by thyroidectomy and RAI. Although the risk of treatment failure for ATD is higher than that of RAI therapy, initial RAI treatment in South Korea is relatively limited compared to that in Western countries. Further studies are required to evaluate the cause of low initial RAI treatment rates in South Korea.

Citations

Citations to this article as recorded by  
  • Treatment of Graves’ Disease: Faster Remission or Longer but Safe, That Is the Question
    Chan-Hee Jung
    Endocrinology and Metabolism.2025; 40(1): 70.     CrossRef
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Calcium & bone metabolism
Effects of Endocrine-Disrupting Chemicals on Bone Health
So Young Park, Sung Hye Kong, Kyoung Jin Kim, Seong Hee Ahn, Namki Hong, Jeonghoon Ha, Sihoon Lee, Han Seok Choi, Ki-Hyun Baek, Jung-Eun Kim, Sang Wan Kim, on Behalf of Metabolic Bone Disease Study Group of Korean Endocrine Society
Endocrinol Metab. 2024;39(4):539-551.   Published online July 17, 2024
DOI: https://doi.org/10.3803/EnM.2024.1963
  • 3,987 View
  • 395 Download
  • 1 Web of Science
  • 1 Crossref
AbstractAbstract PDFPubReader   ePub   
This comprehensive review critically examines the detrimental impacts of endocrine-disrupting chemicals (EDCs) on bone health, with a specific focus on substances such as bisphenol A (BPA), per- and polyfluoroalkyl substances (PFASs), phthalates, and dioxins. These EDCs, by interfering with the endocrine system’s normal functioning, pose a significant risk to bone metabolism, potentially leading to a heightened susceptibility to bone-related disorders and diseases. Notably, BPA has been shown to inhibit the differentiation of osteoblasts and promote the apoptosis of osteoblasts, which results in altered bone turnover status. PFASs, known for their environmental persistence and ability to bioaccumulate in the human body, have been linked to an increased osteoporosis risk. Similarly, phthalates, which are widely used in the production of plastics, have been associated with adverse bone health outcomes, showing an inverse relationship between phthalate exposure and bone mineral density. Dioxins present a more complex picture, with research findings suggesting both potential benefits and adverse effects on bone structure and density, depending on factors such as the timing and level of exposure. This review underscores the urgent need for further research to better understand the specific pathways through which EDCs affect bone health and to develop targeted strategies for mitigating their potentially harmful impacts.

Citations

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  • Elucidating the mechanism of phthalates induced osteoporosis through network toxicology and molecular docking
    Xiao Zhang, Xi Zhu, Wenbo Gu, Xusheng Li, Tenyao Niu, Pengcheng Mao, Haifeng Yuan
    Ecotoxicology and Environmental Safety.2025; 291: 117820.     CrossRef
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Thyroid
Treatment Patterns and Preferences for Graves’ Disease in Korea: Insights from a Nationwide Cohort Study
Kyeong Jin Kim, Jimi Choi, Soo Myoung Shin, Jung A Kim, Kyoung Jin Kim, Sin Gon Kim
Endocrinol Metab. 2024;39(4):659-663.   Published online August 5, 2024
DOI: https://doi.org/10.3803/EnM.2024.2042
  • 1,771 View
  • 107 Download
AbstractAbstract PDFSupplementary MaterialPubReader   ePub   
Treatment patterns and preferences for patients with Graves’ disease (GD) vary across countries. In this study, we assessed the initial therapies and subsequent treatment modalities employed for GD in real-world clinical practice in Korea. We analyzed 452,001 patients with GD from 2004 to 2020, obtained from the Korean National Health Insurance Service database. Initial treatments included antithyroid drug (ATD) therapy (98% of cases), thyroidectomy (1.3%), and radioactive iodine (RAI) therapy (0.7%). The rates of initial treatment failure were 58.5% for ATDs, 21.3% for RAI, and 2.1% for thyroidectomy. Even among cases of ATD treatment failure or recurrence, the rates of RAI therapy remained low. Regarding initial treatment, the 5-year remission rate was 46.8% among patients administered ATDs versus 91.0% among recipients of RAI therapy; at 10 years, these rates were 59.2% and 94.0%, respectively. Our findings highlight a marked disparity in the use of RAI therapy in Korea compared to Western countries. Further research is required to understand the reasons for these differences in treatment patterns.
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Calcium & bone metabolism
Bone Loss after Solid Organ Transplantation: A Review of Organ-Specific Considerations
Kyoung Jin Kim, Jeonghoon Ha, Sang Wan Kim, Jung-Eun Kim, Sihoon Lee, Han Seok Choi, Namki Hong, Sung Hye Kong, Seong Hee Ahn, So Young Park, Ki-Hyun Baek, on Behalf of Metabolic Bone Disease Study Group of Korean Endocrine Society
Endocrinol Metab. 2024;39(2):267-282.   Published online April 25, 2024
DOI: https://doi.org/10.3803/EnM.2024.1939
  • 6,838 View
  • 313 Download
  • 2 Crossref
AbstractAbstract PDFPubReader   ePub   
This review article investigates solid organ transplantation-induced osteoporosis, a critical yet often overlooked issue, emphasizing its significance in post-transplant care. The initial sections provide a comprehensive understanding of the prevalence and multifactorial pathogenesis of transplantation osteoporosis, including factors such as deteriorating post-transplantation health, hormonal changes, and the impact of immunosuppressive medications. Furthermore, the review is dedicated to organ-specific considerations in transplantation osteoporosis, with separate analyses for kidney, liver, heart, and lung transplantations. Each section elucidates the unique challenges and management strategies pertinent to transplantation osteoporosis in relation to each organ type, highlighting the necessity of an organ-specific approach to fully understand the diverse manifestations and implications of transplantation osteoporosis. This review underscores the importance of this topic in transplant medicine, aiming to enhance awareness and knowledge among clinicians and researchers. By comprehensively examining transplantation osteoporosis, this study contributes to the development of improved management and care strategies, ultimately leading to improved patient outcomes in this vulnerable group. This detailed review serves as an essential resource for those involved in the complex multidisciplinary care of transplant recipients.

Citations

Citations to this article as recorded by  
  • Romosozumab as Treatment for Severe Osteoporosis in Heart and Lung Transplant Recipients
    Lisa M. Raven, Jacqueline R. Center, Christopher A. Muir
    Endocrines.2025; 6(1): 2.     CrossRef
  • Side Effects of Immunosuppressant Drugs After Liver Transplant
    Filippo Gabrielli, Elisa Bernasconi, Arianna Toscano, Alessandra Avossa, Alessia Cavicchioli, Pietro Andreone, Stefano Gitto
    Pharmaceuticals.2025; 18(3): 342.     CrossRef
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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
  • 9,807 View
  • 1,002 Download
  • 9 Web of Science
  • 10 Crossref
AbstractAbstract PDFPubReader   ePub   
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.

Citations

Citations to this article as recorded by  
  • 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
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Diabetes, Obesity and Metabolism
Identification of Healthy and Unhealthy Lifestyles by a Wearable Activity Tracker in Type 2 Diabetes: A Machine Learning-Based Analysis
Kyoung Jin Kim, Jung-Been Lee, Jimi Choi, Ju Yeon Seo, Ji Won Yeom, Chul-Hyun Cho, Jae Hyun Bae, Sin Gon Kim, Heon-Jeong Lee, Nam Hoon Kim
Endocrinol Metab. 2022;37(3):547-551.   Published online June 29, 2022
DOI: https://doi.org/10.3803/EnM.2022.1479
  • 4,295 View
  • 142 Download
  • 2 Web of Science
  • 3 Crossref
AbstractAbstract PDFSupplementary MaterialPubReader   ePub   
Lifestyle is a critical aspect of diabetes management. We aimed to define a healthy lifestyle using objectively measured parameters obtained from a wearable activity tracker (Fitbit) in patients with type 2 diabetes. This prospective observational study included 24 patients (mean age, 46.8 years) with type 2 diabetes. Expectation–maximization clustering analysis produced two groups: A (n=9) and B (n=15). Group A had a higher daily step count, lower resting heart rate, longer sleep duration, and lower mean time differences in going to sleep and waking up than group B. A Shapley additive explanation summary analysis indicated that sleep-related factors were key elements for clustering. The mean hemoglobin A1c level was 0.3 percentage points lower at the end of follow-up in group A than in group B. Factors related to regular sleep patterns could be possible determinants of lifestyle clustering in patients with type 2 diabetes.

Citations

Citations to this article as recorded by  
  • Evaluating impact of movement on diabetes via artificial intelligence and smart devices systematic literature review
    Sayna Rotbei, Wei Hsuan Tseng, Beatriz Merino-Barbancho, Muhammad Salman Haleem, Luis Montesinos, Leandro Pecchia, Giuseppe Fico, Alessio Botta
    Expert Systems with Applications.2024; 257: 125058.     CrossRef
  • Rethink nutritional management in chronic kidney disease care
    Fangyue Chen, Krit Pongpirul
    Frontiers in Nephrology.2023;[Epub]     CrossRef
  • Effect of a Wearable Device–Based Physical Activity Intervention in North Korean Refugees: Pilot Randomized Controlled Trial
    Ji Yoon Kim, Kyoung Jin Kim, Kyeong Jin Kim, Jimi Choi, Jinhee Seo, Jung-Been Lee, Jae Hyun Bae, Nam Hoon Kim, Hee Young Kim, Soo-Kyung Lee, Sin Gon Kim
    Journal of Medical Internet Research.2023; 25: e45975.     CrossRef
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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
  • 12,155 View
  • 756 Download
  • 11 Web of Science
  • 15 Crossref
AbstractAbstract PDFPubReader   ePub   
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.

Citations

Citations to this article as recorded by  
  • 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
    Clinical Nuclear Medicine.2024; 49(1): 27.     CrossRef
  • 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
    La Rivista Italiana della Medicina di Laboratorio.2024;[Epub]     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
  • Clinical and epidemiological characteristics of patients with pheochromocytoma and retroperitoneal paraganglioma
    D. V. Rebrova, N. V. Vorokhobina
    Meditsinskiy sovet = Medical Council.2024; (16): 206.     CrossRef
  • Evaluation and Management of Bone Health in Patients with Thyroid Diseases: A Position Statement of the Korean Thyroid Association
    A Ram Hong, Ho-Cheol Kang
    Endocrinology and Metabolism.2023; 38(2): 175.     CrossRef
  • 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
    Frontiers in Endocrinology.2023;[Epub]     CrossRef
  • Interleukin-6-producing paraganglioma as a rare cause of systemic inflammatory response syndrome: a case report
    Yin Young Lee, Seung Min Chung
    Journal of Yeungnam Medical Science.2023; 40(4): 435.     CrossRef
  • (Extremely rare intrapericardial location of paraganglioma)
    Jaroslav Zajíc, Aleš Mokráček, Ladislav Pešl, Jiří Haniš, Dita Schaffelhoferová
    Cor et Vasa.2023; 65(4): 692.     CrossRef
  • A Case of Von Hippel-Lindau Disease With Recurrence of Paraganglioma and No Other Associated Symptoms: The Importance of Genetic Testing and Establishing Follow-Up Policies
    Naoki Okada, Akihiro Shioya, Sumihito Togi, Hiroki Ura, Yo Niida
    Cureus.2023;[Epub]     CrossRef
  • KSNM60 in Nuclear Endocrinology: from the Beginning to the Future
    Chae Moon Hong, Young Jin Jeong, Hae Won Kim, Byeong-Cheol Ahn
    Nuclear Medicine and Molecular Imaging.2022; 56(1): 17.     CrossRef
  • 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
    Cancers.2022; 14(8): 1967.     CrossRef
  • Evaluation and Management of Bone Health in Patients with Thyroid Diseases: a Position Statement from the Korean Thyroid Association
    A Ram Hong, Hwa Young Ahn, Bu Kyung Kim, Seong Hee Ahn, So Young Park, Min-Hee Kim, Jeongmin Lee, Sun Wook Cho, Ho-Cheol Kang
    International Journal of Thyroidology.2022; 15(1): 1.     CrossRef
  • Pheochromocytoma with Retroperitoneal Metastasis: A Case Report
    建新 崔
    Advances in Clinical Medicine.2021; 11(05): 2239.     CrossRef
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Clinical Study
Genetic Analysis and Clinical Characteristics of Hereditary Pheochromocytoma and Paraganglioma Syndrome in Korean Population
Heewon Choi, Kyoung Jin Kim, Namki Hong, Saeam Shin, Jong-Rak Choi, Sang Wook Kang, Seung Tae Lee, Yumie Rhee
Endocrinol Metab. 2020;35(4):858-872.   Published online December 23, 2020
DOI: https://doi.org/10.3803/EnM.2020.683
  • 6,816 View
  • 209 Download
  • 13 Web of Science
  • 13 Crossref
AbstractAbstract PDFSupplementary MaterialPubReader   ePub   
Background
Pheochromocytoma and paragangliomas (PPGL) are hereditary in approximately 30% to 40% cases. With the advancement of genetic analysis techniques, including next-generation sequencing (NGS), there were attempts to classify PPGL into molecular clusters. With NGS being applied to clinical settings recently, we aimed to review the results of genetic analysis, including NGS, and investigate the association with clinical characteristics in Korean PPGL patients.
Methods
We reviewed the medical records of PPGL patients who visited Severance hospital from 2006 to 2019. We documented the clinical phenotype of those who underwent targeted NGS or had known germline mutations of related genes.
Results
Among 57 PPGL patients, we found 28 pathogenic germline mutations of susceptibility genes. Before the targeted NGS was implemented, only obvious syndromic feature lead to the Sanger sequencing for the specific genes. Therefore, for the exact prevalence, only patients after the year 2017, when targeted NGS was added, were included (n=43). The positive germline mutations were found in 14 patients; thus, the incidence rate is 32.6%. Patients with germline mutations had a higher likelihood of family history. There were significant differences in the type of PPGLs, percentage of family history, metastasis rate, presence of other tumors, and biochemical profile among three molecular clusters: pseudohypoxic tricarboxylic acid cycle-related, pseudohypoxic von Hippel-Lindau (VHL)/endothelial PAS domain-containing protein 1-related, and kinase-signaling group. Germline mutations were identified in seven PPGL-related genes (SDHB, RET, VHL, NF1, MAX, SDHA, and SDHD).
Conclusion
We report the expected prevalence of germline mutations in Korean PPGL patients. NGS is a useful and accessible tool for genetic analysis in patients with PPGLs, and further research on molecular classification is needed for precise management.

Citations

Citations to this article as recorded by  
  • Patient Sex and Origin Influence Distribution of Driver Genes and Clinical Presentation of Paraganglioma
    Susan Richter, Nicole Bechmann
    Journal of the Endocrine Society.2024;[Epub]     CrossRef
  • Main mechanisms and clinical implications of alterations in energy expenditure state among patients with pheochromocytoma and paraganglioma: A review
    Yuqi Yang, Tong Zhou, Xue Zhao, Yunjia Cai, Yao Xu, Xiaokun Gang, Guixia Wang
    Medicine.2024; 103(17): e37916.     CrossRef
  • Validation and Evaluation of 5 Scoring Systems for Predicting Metastatic Risk in Pheochromocytoma and Paraganglioma
    Qin Li, Zhigang Lan, Yong Jiang, Rui Wang, Ziyao Li, Xiaolin Jiang
    American Journal of Surgical Pathology.2024; 48(7): 855.     CrossRef
  • Differences between Patients with Sporadic and Familial Pheochromocytoma—Is It Possible to Avoid Genetic Testing in Certain Patients?
    María Consuelo Muñoz, Beatriz Febrero, Miriam Abellán, Antonio Miguel Hernández, José Manuel Rodríguez
    Biomedicines.2024; 12(6): 1352.     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
  • Genotype and clinical phenotype characteristics of MAX germline mutation–associated pheochromocytoma/paraganglioma syndrome
    Bijun Lian, Jun Lu, Xudong Fang, Yiming Zhang, Wei Wang, Yi He, Hongyuan Yu, Feiping Li, Junwei Wang, Weiying Chen, Xiaoping Qi
    Frontiers in Endocrinology.2024;[Epub]     CrossRef
  • Novel and recurrent genetic variants of VHL, SDHB, and RET genes in Chinese pheochromocytoma and paraganglioma patients
    Chong Li, Jingyi Li, Chao Han, Ting Wang, Lixia Zhang, Zhifang Wang, Tingting Wang, Lijun Xu, Guangzhao Qi, Guijun Qin, Xialian Li, Lili Zheng
    Frontiers in Genetics.2023;[Epub]     CrossRef
  • Genetic Study in Pheochromocytoma: Is It Possible to Stratify the Risk of Hereditary Pheochromocytoma?
    Marta Araujo-Castro, César Mínguez Ojeda, Iñigo García Sanz, Maria Calatayud, Felicia Hanzu, Mireia Mora, Almudena Vicente, Concepción Blanco Carrera, Paz de Miguel Novoa, María del Carmen López García, Cristina Lamas, Laura Manjón-Miguélez, María del Cas
    Neuroendocrinology.2023; 113(6): 657.     CrossRef
  • The Role of VHL in the Development of von Hippel-Lindau Disease and Erythrocytosis
    Petra Hudler, Mojca Urbancic
    Genes.2022; 13(2): 362.     CrossRef
  • Bilateral Pheochromocytoma with Germline MAX Variant without Family History
    Shinnosuke Hata, Mai Asano, Hiroyuki Tominaga, Masahide Hamaguchi, Fumiya Hongo, Takeshi Usui, Eiichi Konishi, Michiaki Fukui
    Clinics and Practice.2022; 12(3): 299.     CrossRef
  • 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
    Endocrinology and Metabolism.2021; 36(2): 322.     CrossRef
  • Prevalence of Germline Variants in a Large Cohort of Japanese Patients with Pheochromocytoma and/or Paraganglioma
    Masato Yonamine, Koichiro Wasano, Yuichi Aita, Takehito Sugasawa, Katsutoshi Takahashi, Yasushi Kawakami, Hitoshi Shimano, Hiroyuki Nishiyama, Hisato Hara, Mitsuhide Naruse, Takahiro Okamoto, Tadashi Matsuda, Shinji Kosugi, Kazuhiko Horiguchi, Akiyo Tanab
    Cancers.2021; 13(16): 4014.     CrossRef
  • Recurrent Germline Mutations of CHEK2 as a New Susceptibility Gene in Patients with Pheochromocytomas and Paragangliomas
    Yinjie Gao, Chao Ling, Xiaosen Ma, Huiping Wang, Yunying Cui, Min Nie, Anli Tong, Dario De Biase
    International Journal of Endocrinology.2021; 2021: 1.     CrossRef
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Primary Hyperparathyroidism with Extensive Brown Tumors and Multiple Fractures in a 20-Year-Old Woman
Ju Hee Choi, Kyoung Jin Kim, Ye Jin Lee, Sun Hwa Kim, Sin Gon Kim, Kwang Yoon Jung, Dong Seop Choi, Nam Hoon Kim
Endocrinol Metab. 2015;30(4):614-619.   Published online December 31, 2015
DOI: https://doi.org/10.3803/EnM.2015.30.4.614
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  • 8 Web of Science
  • 8 Crossref
AbstractAbstract PDFPubReader   

A brown tumor is a benign fibrotic, erosive bony lesion caused by localized, rapid osteoclastic turnover, resulting from hyperparathyroidism. Although brown tumors are one of the most pathognomonic signs of primary hyperparathyroidism, they are rarely seen in clinical practice. In this report, we present a case of 20-year-old woman with recurrent fractures and bone pain. Plain digital radiographs of the affected bones revealed multiple erosive bone tumors, which were finally diagnosed as brown tumors associated with primary hyperparathyroidism due to a parathyroid adenoma. This case shows that multiple, and clinically severe form of brown tumors can even occur in young patients.

Citations

Citations to this article as recorded by  
  • Bone tumors in the maxilla and the tibia leading to the diagnosis of asymptomatic primary hyperparathyroidism in a 17-year-old male: A case report
    Saja Karaja, William Borghol, Ahed Assaf, Nabeha Haytham Alibrahim, Maram Alkirwan, Rana Shannat
    International Journal of Surgery Case Reports.2025; : 111182.     CrossRef
  • Osteolytic Lesions (Brown Tumors) of Primary Hyperparathyroidism: A Report of Two Cases
    Abrar M Alrotoie, Asia A Aljohani, Renad Alrehaili, Mayar Alharbi, Yousef M Alalawi
    Cureus.2024;[Epub]     CrossRef
  • Update on brown tumor of hyperparathyroidism
    Alex Guedes, Ricardo Gehrke Becker, Suely Akiko Nakagawa, Aparecida Aguiar Lima Guedes
    Revista da Associação Médica Brasileira.2024;[Epub]     CrossRef
  • Diagnostic challenge of the brown tumors in developing country: A case series
    Erny Khomariyah, Yunita Purnamasari, Mohammad Hardian Basuki, Stepanus Massora
    International Journal of Surgery Case Reports.2024; 123: 110221.     CrossRef
  • Brown tumor of the knee as the first presentation of primary hyperparathyroidism caused by parathyroid adenoma: A case report
    Vaishnavi C Tapadia, Romana Riyaz, Abhigan Babu Shrestha, Javeed Akhtar Ankolvi
    Radiology Case Reports.2023; 18(5): 1852.     CrossRef
  • Brown tumors in nuclear medicine: a systematic review
    Nicolas Jacquet-Francillon, Nathalie Prevot
    Annals of Nuclear Medicine.2023; 37(5): 255.     CrossRef
  •  Misdiagnosis of brown tumour caused by primary hyperparathyroidism: a case report with literature review
    Yanchun Zhong, Yuxi Huang, Jiaquan Luo, Yongjun Ye
    BMC Endocrine Disorders.2022;[Epub]     CrossRef
  • Gnathic Bones and Hyperparathyroidism: A Review on the Metabolic Bony Changes Affecting the Mandible and Maxilla in case of Hyperparathyroidism
    Hazim Mahmoud Ibrahem
    Advances in Medicine.2020; 2020: 1.     CrossRef
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Thyroid
A Rare Manifestation of Hypothyroid Myopathy: Hoffmann's Syndrome
Kang Won Lee, Sun Hwa Kim, Kyoung Jin Kim, Sang Hyun Kim, Hee Young Kim, Byung-Jo Kim, Sin Gon Kim, Dong Seop Choi
Endocrinol Metab. 2015;30(4):626-630.   Published online December 31, 2015
DOI: https://doi.org/10.3803/EnM.2015.30.4.626
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  • 125 Download
  • 12 Web of Science
  • 10 Crossref
AbstractAbstract PDFPubReader   

Hypothyroid myopathy is observed frequently and the resolution of the clinical manifestations of myopathy following thyroid hormone replacement is well known. However, a specific subtype of hypothyroid myopathy, Hoffmann's syndrome, characterized by increased muscular mass (pseudohypertrophy), proximal muscle weakness, muscle stiffness and cramps, is rarely reported. Herein, we describe a 34-year-old male who presented with proximal muscle weakness and non-pitting edema of the lower extremities. He initially visited the neurology department where he was suspected of having polymyositis. Additional laboratory evaluation revealed profound autoimmune hypothyroidism and elevated muscle enzymes including creatine kinase. The patient was started on levothyroxine treatment and, subsequently, clinical symptoms and biochemical parameters resolved with the treatment. The present case highlights that hypothyroidism should be considered in the differential diagnosis of musculoskeletal symptoms even in the absence of overt manifestations of hypothyroidism. To our knowledge, this is the first case reported in Korea.

Citations

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  • Suspected muscular pseudohypertrophy in a dog: An atypical presentation of hypothyroidism
    Florian Bedel, Maud Girod, Alexis Lecoindre
    Veterinary Record Case Reports.2025;[Epub]     CrossRef
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    Atanu Chandra, Moni Sankar Bhattacharjee, Purbasha Biswas, Parthasarathi Karmakar
    BMJ Case Reports.2025; 18(1): e262110.     CrossRef
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    Chencui Shi, Qiangdong Zou, Hong Wei
    Journal of Back and Musculoskeletal Rehabilitation.2024; 37(6): 1663.     CrossRef
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    T.I. Mamedova, K.A. Reznichenko, E.V. Timofeev
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    Sabine Winter, Bianka Heiling, Niklas Eckardt, Christof Kloos, Hubertus Axer
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    Rita V Nogueira, Rui Lima, Carina Parente, Pedro Liberal, Lucia Santos
    Cureus.2023;[Epub]     CrossRef
  • Hoffman's syndrome as the presenting manifestation of non-primary hypothyroidism in a case of Prader-Willi Syndrome
    R. Ghosh, A. Ray, D. Roy, J. Benito-Leon
    Neurología.2022; 37(9): 824.     CrossRef
  • Hoffman's syndrome as the presenting manifestation of non-primary hypothyroidism in a case of Prader-Willi Syndrome
    R. Ghosh, A. Ray, D. Roy, J. Benito-Leon
    Neurología (English Edition).2022; 37(9): 824.     CrossRef
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    Erling Aarsæther, Ragnar Joakimsen, Hanne Halvorsen, Trude Sildnes, Olav Sivertsen, Jan Due
    Journal of Medical Case Reports.2020;[Epub]     CrossRef
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    Alessandro Sindoni, Carmelo Rodolico, Maria Angela Pappalardo, Simona Portaro, Salvatore Benvenga
    Reviews in Endocrine and Metabolic Disorders.2016; 17(4): 499.     CrossRef
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Effects of Sequential Anti-Resorptive Agents on Bone Mineral Density Following Denosumab Withdrawal: A Multicenter Real-World Study in Korea (MAXCARE Study)
Jeonghoon Ha, Kyong Yeun Jung, Kyoung Jin Kim, Seong Hee Ahn, Hyo-Jeong Kim, Yoon-Sok Chung, on Behalf of MAXCARE Research Group
Received October 31, 2024  Accepted January 13, 2025  Published online February 11, 2025  
DOI: https://doi.org/10.3803/EnM.2024.2227    [Epub ahead of print]
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AbstractAbstract PDFPubReader   ePub   
Background
Denosumab is a potent anti-resorptive agent widely used for osteoporosis. However, its discontinuation results in a ‘rebound phenomenon’ of rapid bone loss, necessitating transition to alternative anti-resorptive therapies. Despite this, there is limited evidence to guide the selection of the most effective agent, particularly among bisphosphonates. This study aimed to evaluate the efficacy of different anti-resorptive therapies following denosumab discontinuation in a real-world clinical setting.
Methods
This retrospective study included 360 patients (low-dose alendronate/calcitriol combination [MXM, n=118], alendronate [ALD, n=53], risedronate [RIS, n=20], ibandronate [IBN, n=30], zoledronic acid [ZOL, n=106], selective estrogen receptor modulator [SERM, n=33]) who received at least 12 months of post-denosumab anti-resorptive therapy. Bone mineral density (BMD) changes from baseline and fracture patterns were assessed over the treatment period.
Results
Baseline characteristics, including age and body mass index, were comparable across groups, with an average of 4.2 denosumab administrations per patient. The SERM group experienced the greatest BMD decline across all sites. Significant BMD reductions in the lumbar spine and femoral neck and in the femoral neck alone were observed in the IBN and RIS groups, respectively. While BMD decline was also observed in the MXM, ALD, and ZOL groups, these changes were not statistically significant.
Conclusion
MXM, ALD, and ZOL mitigated BMD loss following denosumab discontinuation. Conversely, RIS, IBN, and SERM did not adequately prevent BMD decline. These findings underscore the importance of selecting the most appropriate sequential antiresorptive therapy in clinical practice to minimize BMD loss and reduce the risk of adverse outcomes.
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