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6 "Phenotype"
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Original Articles
Metabolic Phenotypes of Women with Gestational Diabetes Mellitus Affect the Risk of Adverse Pregnancy Outcomes
Joon Ho Moon, Sookyung Won, Hojeong Won, Heejun Son, Tae Jung Oh, Soo Heon Kwak, Sung Hee Choi, Hak Chul Jang
Received July 10, 2024  Accepted September 23, 2024  Published online November 28, 2024  
DOI: https://doi.org/10.3803/EnM.2024.2089    [Epub ahead of print]
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  • 26 Download
AbstractAbstract PDFPubReader   ePub   
Background
Gestational diabetes mellitus (GDM) affects women with diverse pathological phenotypes, but little is known about the effects of this variation on perinatal outcomes. We explored the metabolic phenotypes of GDM and their impact on adverse pregnancy outcomes.
Methods
Women diagnosed with gestational glucose intolerance or GDM were categorized into subgroups according to their prepregnancy body mass index (BMI) and the median values of the gestational Matsuda and Stumvoll indices. Logistic regression analysis was employed to assess the odds of adverse pregnancy outcomes, such as large-for-gestational age (LGA), small-for-gestational age, preterm birth, low Apgar score, and cesarean section.
Results
A total of 309 women were included, with a median age of 31 years and a median BMI of 22.3 kg/m2. Women with a higher pre-pregnancy BMI had a higher risk of LGA newborns (adjusted odds ratio [aOR] for pre-pregnancy BMI ≥25 kg/m2 compared to 20–23 kg/m2, 4.26; 95% confidence interval [CI], 1.99 to 9.12; P<0.001; P for trend=0.001), but the risk of other adverse pregnancy outcomes did not differ according to pre-pregnancy BMI. Women with insulin resistance had a higher risk of LGA (aOR, 1.88; 95% CI, 1.02 to 3.47; P=0.043) and cesarean section (aOR, 2.12; 95% CI, 1.29 to 3.50; P=0.003) than women in the insulin-sensitive group. In contrast, defective β-cell function did not affect adverse pregnancy outcomes.
Conclusion
Different metabolic phenotypes of GDM were associated with heterogeneous pregnancy outcomes. Women with obesity and those with insulin resistance are at greater risk of adverse outcomes and might need strict glycemic management during pregnancy.
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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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  • 42 Download
AbstractAbstract PDFSupplementary MaterialPubReader   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.
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Review Article
Miscellanenous
Cushing Syndrome Associated Myopathy: It Is Time for a Change
Martin Reincke
Endocrinol Metab. 2021;36(3):564-571.   Published online June 18, 2021
DOI: https://doi.org/10.3803/EnM.2021.1069
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  • 197 Download
  • 17 Web of Science
  • 17 Crossref
AbstractAbstract PDFPubReader   ePub   
Cushing syndrome is the result of excessive levels of glucocorticoids. Endogenous Cushing syndrome is rare with an incidence of two to three cases per million per year. Clinically, the presentation consists of a characteristic phenotype including skin symptoms and metabolic manifestations. A frequent co-morbidity with high impact on quality of life is Cushing syndrome associated myopathy. It characteristically affects the proximal myopathy, impairing stair climbing and straightening up. The pathophysiology is complex and involves protein degradation via the forkhead box O3 (FOXO3) pathway, intramuscular fat accumulation, and inactivity-associated muscle atrophy. Surgical remission of Cushing syndrome is the most important step for recovery of muscle function. Restoration depends on age, co-morbidities and postoperative insulin-like growth factor concentrations. At average, functionality remains impaired during the long-term compared to age and sex matched control persons. Growth hormone therapy in individuals with impaired growth hormone secretion could be an option but has not been proved in a randomized trial.

Citations

Citations to this article as recorded by  
  • Osteosarcopenic adiposity and its relation to cancer and chronic diseases: Implications for research to delineate mechanisms and improve clinical outcomes
    Jasminka Z. Ilich, Biljana Pokimica, Danijela Ristić-Medić, Snjezana Petrović, Aleksandra Arsić, Nadja Vasiljević, Vesna Vučić, Owen J. Kelly
    Ageing Research Reviews.2025; 103: 102601.     CrossRef
  • Long-Term Consequences of Cushing Syndrome: A Systematic Literature Review
    Soraya Puglisi, Anna Maria Elena Perini, Cristina Botto, Francesco Oliva, Massimo Terzolo
    The Journal of Clinical Endocrinology & Metabolism.2024; 109(3): e901.     CrossRef
  • Perioperative Management of an Unusual Case of Dual Etiology Myopathy Undergoing Surgery for an Adrenal Tumor
    Himanshu Sekhar Satapathy, Sakshi Gera, Lalit Sehgal
    Journal of Indian College of Anaesthesiologists.2024; 3(2): 86.     CrossRef
  • The Link between Mitochondrial Dysfunction and Sarcopenia: An Update Focusing on the Role of Pyruvate Dehydrogenase Kinase 4
    Min-Ji Kim, Ibotombi Singh Sinam, Zerwa Siddique, Jae-Han Jeon, In-Kyu Lee
    Diabetes & Metabolism Journal.2023; 47(2): 153.     CrossRef
  • Intelligent Systems for Muscle Tracking: A Review on Sensor‐Algorithm Synergy
    Arjun Putcha, Tien Nguyen, Regina Smith, Rachel Choffin, Wubin Bai
    Advanced Intelligent Systems.2023;[Epub]     CrossRef
  • Sarcopenia in youth
    Han Na Jung, Chang Hee Jung, You-Cheol Hwang
    Metabolism.2023; 144: 155557.     CrossRef
  • Cushing Syndrome
    Martin Reincke, Maria Fleseriu
    JAMA.2023; 330(2): 170.     CrossRef
  • Musculoskeletal complications of Cushing syndrome
    Dorota Leszczyńska, Alicja Szatko, Lucyna Papierska, Wojciech Zgliczyński, Piotr Glinicki
    Rheumatology.2023; 61(4): 271.     CrossRef
  • Circulating myomiRNAs as biomarkers in patients with Cushing’s syndrome
    C. Pivonello, R. Patalano, C. Simeoli, T. Montò, M. Negri, F. Amatrudo, N. Di Paola, A. Larocca, E. M. Crescenzo, R. Pirchio, D. Solari, C. de Angelis, R. S. Auriemma, L. M. Cavallo, A. Colao, R. Pivonello
    Journal of Endocrinological Investigation.2023; 47(3): 655.     CrossRef
  • Low-grade inflammation during the glucocorticoid withdrawal phase in patients with Cushing's syndrome
    Frederick Vogel, Leah Braun, Stephanie Zopp, Elisabeth Nowak, Jochen Schreiner, Irina Benz, German Rubinstein, Heike Künzel, Katrin Ritzel, Matthias Kroiss, Jürgen Honegger, Felix Beuschlein, Katharina Schilbach, Daniel Teupser, Martin Bidlingmaier, Marti
    European Journal of Endocrinology.2023; 188(4): 375.     CrossRef
  • An odd case of immune-mediated necrotizing myopathy, complicated with sagittal, transverse and sigmoid sinus thrombosis
    Andreea Trandafir, Violeta Claudia Bonjincă, Delia Tulba, Gelu Onose
    Balneo and PRM Research Journal.2023; 14(Vol.14, no): 630.     CrossRef
  • Morbidität und Mortalität beim Cushing-Syndrom
    Frederick Vogel, Leah Braun, Martin Reincke
    Der Internist.2022; 63(1): 34.     CrossRef
  • Pathophysiology of Mild Hypercortisolism: From the Bench to the Bedside
    Vittoria Favero, Arianna Cremaschi, Chiara Parazzoli, Alberto Falchetti, Agostino Gaudio, Luigi Gennari, Alfredo Scillitani, Fabio Vescini, Valentina Morelli, Carmen Aresta, Iacopo Chiodini
    International Journal of Molecular Sciences.2022; 23(2): 673.     CrossRef
  • Long‐term morbidity and mortality in patients with Cushing's syndrome
    Leah T. Braun, Frederick Vogel, Martin Reincke
    Journal of Neuroendocrinology.2022;[Epub]     CrossRef
  • Clinical presentation and etiology of Cushing's syndrome: Data from ERCUSYN
    Elena Valassi
    Journal of Neuroendocrinology.2022;[Epub]     CrossRef
  • Pyruvate dehydrogenase kinase 4 promotes ubiquitin–proteasome system‐dependent muscle atrophy
    Ibotombi Singh Sinam, Dipanjan Chanda, Themis Thoudam, Min‐Ji Kim, Byung‐Gyu Kim, Hyeon‐Ji Kang, Jung Yi Lee, Seung‐Hoon Baek, Shin‐Yoon Kim, Bum Jin Shim, Dongryeol Ryu, Jae‐Han Jeon, In‐Kyu Lee
    Journal of Cachexia, Sarcopenia and Muscle.2022; 13(6): 3122.     CrossRef
  • Consensus on diagnosis and management of Cushing's disease: a guideline update
    Maria Fleseriu, Richard Auchus, Irina Bancos, Anat Ben-Shlomo, Jerome Bertherat, Nienke R Biermasz, Cesar L Boguszewski, Marcello D Bronstein, Michael Buchfelder, John D Carmichael, Felipe F Casanueva, Frederic Castinetti, Philippe Chanson, James Findling
    The Lancet Diabetes & Endocrinology.2021; 9(12): 847.     CrossRef
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Original Article
Obesity and Metabolism
Increased Risk of Diabetes Development in Subjects with the Hypertriglyceridemic Waist Phenotype: A 4-Year Longitudinal Study
Ki Joong Han, Shin Yeoung Lee, Nam Hee Kim, Hyun Beom Chae, Tae Hoon Lee, Choel Min Jang, Kyung Mo Yoo, Hae Jung Park, Min Kyung Lee, Won Seon Jeon, Se Eun Park, Cheol-Young Park, Won-Young Lee, Ki-Won Oh, Sung-Woo Park, Eun-Jung Rhee
Endocrinol Metab. 2014;29(4):514-521.   Published online December 29, 2014
DOI: https://doi.org/10.3803/EnM.2014.29.4.514
  • 5,688 View
  • 30 Download
  • 21 Web of Science
  • 21 Crossref
AbstractAbstract PDFPubReader   
Background

The hypertriglyceridemic waist (HTGW) phenotype is a simple and inexpensive screening parameter to identify people at increased risk of cardiovascular disease. We evaluated whether the HTGW phenotype predicts diabetes in urban Korean adults.

Methods

A total of 2,900 nondiabetic subjects (mean age 44.3 years), comprising 2,078 males (71.7%) and 822 females (28.3%) who underwent annual medical check-ups at our center between January 2005 and December 2009, were recruited. The subjects were divided into four groups according to baseline serum triglyceride (TG) level and waist circumference (WC): normal WC-normal TG (NWNT) level, normal WC-high TG level, enlarged WC-normal TG level, and enlarged WC-high TG (EWHT) level. High serum TG level was defined as ≥150 mg/dL and enlarged WC was defined as ≥90 cm for men and ≥85 cm for women. New cases of diabetes were determined according to questionnaires filled in by participants and the diagnostic criteria of the American Diabetes Association. Cox proportional hazards model analysis was used to assess the association of HTGW phenotype with the incidence of diabetes.

Results

A total of 101 (3.5%) new diabetes cases were diagnosed during the study period. The EWHT group had a higher incidence of diabetes (8.3%) compared with the NWNT group (2.2%). The adjusted hazard ratio for diabetes for subjects with the EWHT phenotype at baseline was 4.113 (95% confidence interval [CI], 2.397 to 7.059) after adjustment for age, and 2.429 (95% CI, 1.370 to 4.307) after adjustment for age, sex, total cholesterol, systolic blood pressure, and alcohol drinking history. It was attenuated by inclusion of baseline fasting glucose level in the model.

Conclusion

Subjects with the HTGW phenotype showed the highest risk of incident diabetes. This tool could be useful for identifying individuals at high risk of diabetes.

Citations

Citations to this article as recorded by  
  • Triglyceridemic Waist Phenotypes as Risk Factors for Type 2 Diabetes Mellitus: A Systematic Review and Meta-Analysis
    Fiorella E. Zuzunaga-Montoya, Víctor Juan Vera-Ponce
    International Journal of Statistics in Medical Research.2024; 13: 19.     CrossRef
  • Association between hypertriglyceridemic-waist phenotype and circadian syndrome risk: a longitudinal cohort study
    Li-Kun Hu, Yu-Hong Liu, Kun Yang, Ning Chen, Lin-Lin Ma, Yu-Xiang Yan
    Hormones.2023; 22(3): 457.     CrossRef
  • Caracterización del fenotipo de cintura hipertrigliceridémica en pacientes con diabetes mellitus tipo 2 en España: un estudio epidemiológico
    I. Miñambres, J. Sánchez-Hernández, G. Cuixart, A. Sánchez-Pinto, J. Sarroca, A. Pérez
    Revista Clínica Española.2021; 221(10): 576.     CrossRef
  • Association of “hypertriglyceridemic waist” with increased 5-year risk of subclinical atherosclerosis in a multi-ethnic population: a prospective cohort study
    Peyman Namdarimoghaddam, Adeleke Fowokan, Karin H. Humphries, G. B. John Mancini, Scott Lear
    BMC Cardiovascular Disorders.2021;[Epub]     CrossRef
  • Characterization of the hypertriglyceridemic waist phenotype in patients with type 2 diabetes mellitus in Spain: an epidemiological study
    I. Miñambres, J. Sánchez-Hernandez, G. Cuixart, A. Sánchez-Pinto, J. Sarroca, A. Pérez
    Revista Clínica Española (English Edition).2021; 221(10): 576.     CrossRef
  • Association between Hypertriglyceridemic-Waist Phenotype and Risk of Type 2 Diabetes Mellitus in Middle-Aged and Older Chinese Population: A Longitudinal Cohort Study
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    International Journal of Environmental Research and Public Health.2021; 18(18): 9618.     CrossRef
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  • Articles in 'Endocrinology and Metabolism' in 2014
    Won-Young Lee
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  • Changes in Metabolic Health Status Over Time and Risk of Developing Type 2 Diabetes
    Seung-Hwan Lee, Hae Kyung Yang, Hee-Sung Ha, Jin-Hee Lee, Hyuk-Sang Kwon, Yong-Moon Park, Hyeon-Woo Yim, Moo-Il Kang, Won-Chul Lee, Ho-Young Son, Kun-Ho Yoon
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Review Article
Polycystic Ovary Syndrome in Korean Women: Clinical Characteristics and Diagnostic Criteria.
Yeon Ah Sung
Endocrinol Metab. 2011;26(3):203-207.   Published online September 1, 2011
DOI: https://doi.org/10.3803/EnM.2011.26.3.203
  • 3,242 View
  • 52 Download
  • 4 Crossref
AbstractAbstract PDF
Polycystic ovary syndrome (PCOS) is a common disorder of premenopausal women, affecting 4 to 8% of this population. Diagnosis of PCOS lays on a combination of clinical, biological and ultrasound criteria that has been used variably worldwide. The phenotype of women with PCOS is variable depending on ethnic background and diagnostic criteria may rely on it. Fewer studies have extensively examined reproductive and metabolic characteristics and hyperandrogenism in Korean women. Despite the paucity of these studies, they are critical for the ascertainment of criteria for the diagnosis of PCOS. This review address the issues pertaining to diagnostic issues of PCOS in Korean women, specifically: reproductive and metabolic derangements and criteria for hyperandrogenism based on hirsutism and serum androgen concentrations. The prevalence (estimated) of PCOS in Korean women was 5.8%. To diagnose PCOS, the cut off value for hirsutism needs to be differently adjusted in Korean women. Regarding phenotypic characteristics of PCOS in Korean women, the various phenotypes of PCOS have the different overall morbidity (e.g. insulin resistance and hyperinsulinism, abnormal glucose metabolism and metabolic syndrome). Especially patients with oligomenorrhea/polycystic ovary and hyperandrogenism/polycystic ovary did not seem to have metabolic derangements. Thus these subgroups need to be determined if they can be classified as PCOS.

Citations

Citations to this article as recorded by  
  • Assessing medication use patterns among patients with polycystic ovary syndrome at a tertiary care teaching hospital in South Korea: A retrospective study
    Ji Hye Yu, Mi Kyung Moon, Hyo Cho Ahn, Young-Mo Yang
    Medicine.2024; 103(32): e39055.     CrossRef
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    Hee Kyung Choi, Seon Heui Lee, Soo Yeon Yang
    Journal of Clinical Nursing.2023; 32(1-2): 49.     CrossRef
  • Trend changes and factor analysis of endometrial hyperplasia in patients with polycystic ovarian syndrome based on the Korean National Health Insurance Database
    Bora Park, Hakmo Lee, Suyeon Park, Eun Sil Lee, Jeong Jae Lee, Young Lee, Je Hyun Seo
    BMC Women's Health.2022;[Epub]     CrossRef
  • Menstrual Cycle Patterns and the Prevalence of Premenstrual Syndrome and Polycystic Ovary Syndrome in Korean Young Adult Women
    Young-Joo Park, Hyunjeong Shin, Songi Jeon, Inhae Cho, Yae-Ji Kim
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Original Article
Phenotypic Variation of Polycystic Ovary Syndrome.
Gun Woo Pyun, Young Ju Choi, Hyejin Lee, Jee Young Oh, Young Sun Hong, Yeon Ah Sung, Hye Won Chung
J Korean Endocr Soc. 2007;22(5):326-331.   Published online October 1, 2007
DOI: https://doi.org/10.3803/jkes.2007.22.5.326
  • 2,260 View
  • 24 Download
  • 4 Crossref
AbstractAbstract PDF
BACKGROUND
Polycystic ovary syndrome (PCOS) is a common disorder in premenopausal women, but there has been little agreement on its diagnostic criteria due to its uncertain pathogenesis and the heterogeneity of symptoms. This study was performed in order to assess the differences in clinical, metabolic, and hormonal characteristics of women in the PCOS subgroups defined by ESHRE criteria. METHODS: Subjects were divided into four PCOS subgroups based on ESHRE criteria. The grouping groupings included: 1) hyperandrogenism, oligomenorrhea, and polycystic ovary morphology (HA + OM + PCO); 2) hyperandrogenism and oligomenorrhea (HA + OM); 3) hyperandrogenism and polycystic ovary morphology (HA + PCO); and 4) oligomenorrhea and polycystic ovary morphology (OM + PCO). Reproductive hormones and metabolic profiles were measured. RESULTS: Of the total number of subjects, 60 (40%) fulfilled the criteria for HA + OM + PCO, 50 (33%) for HA + OM, 11 (7%) for HA + PCO, and 30 (20%) for OM + PCO. There were no significant differences in clinical or metabolic features among the groups, except for LH, total cholesterol, and HDL cholesterol. CONCLUSION: In this population defined by ESHRE criteria, 73% of the patients met the former NIH definition for PCOS. Different phenotypes of PCOS cases were clinically or biochemically similar. Whether these women have an increased risk of infertility or metabolic complications remains to be determine.

Citations

Citations to this article as recorded by  
  • Epidemiology and Diagnostic Criteria of Polycystic Ovary Syndrome
    Hyejin Lee, Yeon-Ah Sung
    The Journal of Korean Diabetes.2015; 16(3): 189.     CrossRef
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    Yeon-Ah Sung
    Hanyang Medical Reviews.2012; 32(4): 197.     CrossRef
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    Yeon-Ah Sung
    Endocrinology and Metabolism.2011; 26(3): 203.     CrossRef
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    Yu-Bae Ahn
    Journal of Korean Endocrine Society.2007; 22(5): 323.     CrossRef
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