Endocrinology and Metabolism

Corrigendum

Diabetes
Corrigendum: Correction of Table. Identification of Maturity-Onset Diabetes of the Young Caused by Glucokinase Mutations Detected Using Whole-Exome Sequencing: Eun-Hee Cho, Jae Woong Min, Sun Shim Choi, Hoon Sung Choi, Sang-Wook Kim; Endocrinol Metab. 2021;36(2):468. Published online March 24, 2021; DOI: https://doi.org/10.3803/EnM.2021.202; Corrects: Endocrinol Metab 2017;32(2):296

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Brief Report

Adrenal gland
Novel ABCD1 Gene Mutation in a Korean Patient with X-Linked Adrenoleukodystrophy Presenting with Addison's Disease: Yun Kyung Cho, Seo-Young Lee, Sang-Wook Kim; Endocrinol Metab. 2020;35(1):188-191. Published online March 19, 2020; DOI: https://doi.org/10.3803/EnM.2020.35.1.188

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Abstract PDF PubReader ePub

X-linked adrenoleukodystrophy (X-ALD) occurs due to mutations in the ABCD1 gene that encodes the peroxisomal membrane protein peroxisomal transporter ATP-binding cassette sub-family D member 1 (ABCD1). Degradation of very long-chain fatty acids in peroxisomes is impaired owing to ABCD dysfunction, subsequently leading to adrenomyeloneuropathy, cerebral adrenoleukodystrophy, and adrenal insufficiency. X-ALD frequently induces idiopathic Addison's disease in young male patients. Here, we confirmed the diagnosis of X-ALD in a young male patient with primary adrenal insufficiency, and identified a novel ABCD1 gene mutation (p.Trp664*, c.1991 G>A).

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Ocular findings and genomics of X-linked recessive disorders: A review
Asima Hassan, YaserR Mir, RajaA H Kuchay
Indian Journal of Ophthalmology.2022; 70(7): 2386. CrossRef

Corrigendum

Miscellaneous
Corrigendum: Correction of Acknowledgments. Association between Serum Fibroblast Growth Factor 21 Levels and Bone Mineral Density in Postmenopausal Women: Hoon Sung Choi, Hyang Ah Lee, Sang-Wook Kim, Eun-Hee Cho; Endocrinol Metab. 2018;33(3):428. Published online August 14, 2018; DOI: https://doi.org/10.3803/EnM.2018.33.3.428

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A novel residual graph convolution deep learning model for short-term network-based traffic forecasting
Yang Zhang, Tao Cheng, Yibin Ren, Kun Xie
International Journal of Geographical Information Science.2020; 34(5): 969. CrossRef

Original Article

Bone Metabolism
Association between Serum Fibroblast Growth Factor 21 Levels and Bone Mineral Density in Postmenopausal Women: Hoon Sung Choi, Hyang Ah Lee, Sang-Wook Kim, Eun-Hee Cho; Endocrinol Metab. 2018;33(2):273-277. Published online June 21, 2018; DOI: https://doi.org/10.3803/EnM.2018.33.2.273

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Background

Despite the beneficial effect of fibroblast growth factor 21 (FGF21) on metabolic disease, there are concerns about adverse effects on bone metabolism, supported by animal studies. However, a recent human study showed the positive association between serum FGF21 level and bone mineral density (BMD) in healthy premenopausal women. We undertook this study to examine the association between FGF21 level and BMD in healthy postmenopausal Korean women who are susceptible to osteoporosis.

Methods

We used data of 115 participants from a cohort of healthy postmenopausal women (>50 years old) to examine the association between serum FGF21 level and BMD. The clinical characteristics were obtained from the participants, and blood testing and serum FGF21 testing were undertaken. BMD of the lumbar spine, femoral neck and total hip area, and bone markers were used in the analyses.

Results

The mean age of the participants was 60.2±7.2 years. Serum FGF21 levels showed negative correlation with BMD and T-scores in all three areas, but there were no statistically significant differences. Multivariate analyses with adjustment for age and body mass index also did not show significant association between serum FGF21 level and BMD. In addition, serum FGF21 level also showed no correlation with osteocalcin and C-telopeptide levels.

Conclusion

In our study, serum FGF21 level showed no significant correlation with BMD and T-scores.

Citations

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Fibroblast growth factor 21 and bone homeostasis
Yan Tang, Mei Zhang
Biomedical Journal.2023; 46(4): 100548. CrossRef
FGF21 negatively affects long-term female fertility in mice
Beat Moeckli, Thuy-Vy Pham, Florence Slits, Samuel Latrille, Andrea Peloso, Vaihere Delaune, Graziano Oldani, Stéphanie Lacotte, Christian Toso
Heliyon.2022; 8(11): e11490. CrossRef
Potential role of fibroblast growth factor 21 in the deterioration of bone quality in impaired glucose tolerance
D. T. W. Lui, C. H. Lee, V. W. K. Chau, C. H. Y. Fong, K. M. Y. Yeung, J. K. Y. Lam, A. C. H. Lee, W. S. Chow, K. C. B. Tan, Y. C. Woo, K. S. L. Lam
Journal of Endocrinological Investigation.2021; 44(3): 523. CrossRef
Skeletal Muscle and Bone – Emerging Targets of Fibroblast Growth Factor-21
Hui Sun, Matthew Sherrier, Hongshuai Li
Frontiers in Physiology.2021;[Epub] CrossRef
Age‐related bone loss is associated with FGF21 but not IGFBP1 in healthy adults
Shuen Yee Lee, Kai Deng Fam, Kar Ling Chia, Margaret M. C. Yap, Jorming Goh, Kwee Poo Yeo, Eric P. H. Yap, Sanjay H. Chotirmall, Chin Leong Lim
Experimental Physiology.2020; 105(4): 622. CrossRef
Chronic Kidney Disease Is Associated with Increased Plasma Levels of Fibroblast Growth Factors 19 and 21
Małgorzata Marchelek-Myśliwiec, Violetta Dziedziejko, Monika Nowosiad-Magda, Katarzyna Dołęgowska, Barbara Dołęgowska, Andrzej Pawlik, Krzysztof Safranow, Magda Wiśniewska, Joanna Stępniewska, Maciej Domański, Kazimierz Ciechanowski
Kidney and Blood Pressure Research.2019; 44(5): 1207. CrossRef

Brief Report

Identification of Maturity-Onset Diabetes of the Young Caused by Glucokinase Mutations Detected Using Whole-Exome Sequencing: Eun-Hee Cho, Jae Woong Min, Sun Shim Choi, Hoon Sung Choi, Sang-Wook Kim; Endocrinol Metab. 2017;32(2):296-301. Published online May 29, 2017; DOI: https://doi.org/10.3803/EnM.2017.32.2.296; Correction in: Endocrinol Metab 2021;36(2):468

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Abstract PDF PubReader

Glucokinase maturity-onset diabetes of the young (GCK-MODY) represents a distinct subgroup of MODY that does not require hyperglycemia-lowering treatment and has very few diabetes-related complications. Three patients from two families who presented with clinical signs of GCK-MODY were evaluated. Whole-exome sequencing was performed and the effects of the identified mutations were assessed using bioinformatics tools, such as PolyPhen-2, SIFT, and in silico modeling. We identified two mutations: p.Leu30Pro and p.Ser383Leu. In silico analyses predicted that these mutations result in structural conformational changes, protein destabilization, and thermal instability. Our findings may inform future GCK-MODY diagnosis; furthermore, the two mutations detected in two Korean families with GCK-MODY improve our understanding of the genetic basis of the disease.

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Two novel GCK mutations in Chinese patients with maturity-onset diabetes of the young
Tao Wang, Mengmeng Zhu, Yun Wang, Cheng Hu, Chen Fang, Ji Hu
Endocrine.2023; 83(1): 92. CrossRef
Maturity-onset diabetes of the young in a large Portuguese cohort
Sílvia Santos Monteiro, Tiago da Silva Santos, Liliana Fonseca, Guilherme Assunção, Ana M. Lopes, Diana B. Duarte, Ana Rita Soares, Francisco Laranjeira, Isaura Ribeiro, Eugénia Pinto, Sónia Rocha, Sofia Barbosa Gouveia, María Eugenia Vazquez-Mosquera, Ma
Acta Diabetologica.2022; 60(1): 83. CrossRef
Maturity-Onset Diabetes of the Young: Mutations, Physiological Consequences, and Treatment Options
Hazar Younis, Se Eun Ha, Brian G. Jorgensen, Arushi Verma, Seungil Ro
Journal of Personalized Medicine.2022; 12(11): 1762. CrossRef
Monogenic diabetes: recent updates on diagnosis and precision treatment: A narrative review
Kyung Mi Jang
Precision and Future Medicine.2022; 6(4): 209. CrossRef
Monogenic diabetes characteristics in a transnational multicenter study from Mediterranean countries
Martine Vaxillaire, Amélie Bonnefond, Stavros Liatis, Leila Ben Salem Hachmi, Aleksandra Jotic, Mathilde Boissel, Stefan Gaget, Emmanuelle Durand, Emmanuel Vaillant, Mehdi Derhourhi, Mickaël Canouil, Nicolas Larcher, Frédéric Allegaert, Rita Medlej, Asma
Diabetes Research and Clinical Practice.2021; 171: 108553. CrossRef
Etiologic distribution and clinical characteristics of pediatric diabetes in 276 children and adolescents with diabetes at a single academic center
Ja Hye Kim, Yena Lee, Yunha Choi, Gu-Hwan Kim, Han-Wook Yoo, Jin-Ho Choi
BMC Pediatrics.2021;[Epub] CrossRef
Gençlerin Erişkin Başlangıçlı Diyabeti (MODY) Sorumlu HNF4A, GCK ve HNF1 Gen Varyasyonlarının Dünya Genelinde Coğrafik Dağılımı
Deniz KANCA DEMİRCİ, Nurdan GÜL, İlhan SATMAN, Oguz OZTURK, Hülya YILMAZ AYDOĞAN
Haliç Üniversitesi Fen Bilimleri Dergisi.2021; 4(1): 41. CrossRef
Undernutrition and suboptimal growth during the first year are associated with glycemia but not with insulin resistance in adulthood
Isabel Pereyra, Sandra López-Arana, Bernardo L. Horta
Cadernos de Saúde Pública.2021;[Epub] CrossRef
Update on Monogenic Diabetes in Korea
Ye Seul Yang, Soo Heon Kwak, Kyong Soo Park
Diabetes & Metabolism Journal.2020; 44(5): 627. CrossRef
The epidemiology, molecular pathogenesis, diagnosis, and treatment of maturity-onset diabetes of the young (MODY)
Ken Munene Nkonge, Dennis Karani Nkonge, Teresa Njeri Nkonge
Clinical Diabetes and Endocrinology.2020;[Epub] CrossRef
Novel deletion mutation in the glucokinase gene from a Korean man with GCK-MODY phenotype and situs inversus
Yun Kyung Cho, Eun-Hee Cho, Hoon Sung Choi, Sang-Wook Kim
Diabetes Research and Clinical Practice.2018; 143: 263. CrossRef

Original Articles

Serum Preadipocyte Factor 1 Levels Are Not Associated with Bone Mineral Density among Healthy Postmenopausal Korean Women: Hoon Sung Choi, Sang-Wook Kim, Eun-Hee Cho; Endocrinol Metab. 2017;32(1):124-128. Published online February 28, 2017; DOI: https://doi.org/10.3803/EnM.2017.32.1.124

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Abstract PDF Supplementary Material PubReader: Background
Multipotent mesenchymal stem cells can differentiate into adipocytes or osteoblasts through closely regulated lineage-control processes. However, adipocyte precursor cells release preadipocyte factor 1 (Pref-1), which inhibits the differentiation of mesenchymal stem cells into mature adipocytes and osteoblasts. Previous studies have also reported an inverse association between Pref-1 levels and bone mineral density (BMD) among patients with anorexia nervosa.
Methods
In this retrospective study, we examined the correlations between Pref-1 levels and BMD among 124 healthy postmenopausal women (>50 years old). The patients had provided information regarding their clinical characteristics, and underwent blood testing and serum Pref-1 testing.
Results
The subjects' mean age was 59.9±7.1 years and the median time since menopause onset was 9.1 years. A history of osteoporotic fracture was identified in 23 subjects (19%). Serum Pref-1 levels were not significantly correlated with BMD values at the lumbar spine (R²=0.038, P=0.109), femur neck (R²=0.017, P=0.869), and total hip (R²=0.041, P=0.09), and multivariate analyses with adjustment for age and body mass index also did not detect any significant correlations. Subgroup analyses according to a history of fracture also did not detect significant associations between Pref-1 levels and BMD values.
Conclusion
In our study population, it does not appear that serum Pref-1 levels are significantly associated with BMD values and osteoporosis.

Clinical Study
Comparison of Age of Onset and Frequency of Diabetic Complications in the Very Elderly Patients with Type 2 Diabetes: Bong-Ki Lee, Sang-Wook Kim, Daehee Choi, Eun-Hee Cho; Endocrinol Metab. 2016;31(3):416-423. Published online August 26, 2016; DOI: https://doi.org/10.3803/EnM.2016.31.3.416

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Background

The prevalence of type 2 diabetes in elderly people has increased dramatically in the last few decades. This study was designed to clarify the clinical characteristics of type 2 diabetes in patients aged ≥80 years according to age of onset.

Methods

We reviewed the medical records of 289 patients aged ≥80 years with type 2 diabetes at the outpatient diabetes clinics of Kangwon National University Hospital from September 2010 to June 2014. We divided the patients into middle-age-onset diabetes (onset before 65 years of age) and elderly-onset diabetes (onset at 65+ years of age).

Results

There were 141 male and 148 female patients. The patients had a mean age of 83.2±2.9 years and the mean duration of diabetes was 14.3±10.4 years. One hundred and ninety-nine patients had elderly-onset diabetes. The patients with elderly-onset diabetes had a significantly lower frequency of diabetic retinopathy and nephropathy, lower serum creatinine levels, lower glycated hemoglobin (HbA1c) levels, and similar coronary revascularization and cerebral infarction rates compared to those with middle-age-onset diabetes. There was no frequency difference in coronary revascularization and cerebral infarction and HbA1c levels between three subgroups (<5, 5 to 15, and ≥15 years) of diabetes duration in elderly onset diabetes. However, both in the elderly onset diabetes and middle-age-onset diabetes, the cumulative incidence of retinopathy was increasing rapidly according to the duration of diabetes.

Conclusion

We report that individuals with elderly-onset diabetes have a lower frequency of diabetic retinopathy and nephropathy and similar cardiovascular complications compared to those with middle-age-onset diabetes.

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Rescue of High Glucose Impairment of Cultured Human Osteoblasts Using Cinacalcet and Parathyroid Hormone
V. A. Shahen, A. Schindeler, M. S. Rybchyn, C. M. Girgis, B. Mulholland, R. S. Mason, I. Levinger, T. C. Brennan-Speranza
Calcified Tissue International.2023; 112(4): 452. CrossRef
Factors Related to the Occurrence and Number of Chronic Diabetic Complications in Patients with Type 2 Diabetes Mellitus: Utilizing The National Health Insurance Service-National Health Screening Cohort in Korea, 2002~2015
Haejung Lee, Misoon Lee, Gaeun Park, Ah Reum Khang
Journal of Korean Gerontological Nursing.2022; 24(1): 22. CrossRef
Prevalence of and Risk Factors for Diabetic Retinopathy and Diabetic Macular Edema in Patients with Early- and Late-Onset Diabetes Mellitus
Yu Wang, Zhong Lin, Gang Zhai, Xiao Xia Ding, Liang Wen, Dong Li, Bo Zou, Ke Mi Feng, Yuan Bo Liang, Cong Xie
Ophthalmic Research.2022; 65(3): 293. CrossRef
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Christine T. Cigolle, Caroline S. Blaum, Chen Lyu, Jinkyung Ha, Mohammed Kabeto, Judy Zhong
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Alfredo Carrato, Davide Melisi, Gerald Prager, Christoph B Westphalen, Anabel Ferreras, Nathalie D’Esquermes, Julien Taieb, Teresa M Mercadé
Future Oncology.2021; 17(15): 1843. CrossRef
Distinction of cardiometabolic profiles among people ≥75 years with type 2 diabetes: a latent profile analysis
Antoine CHRISTIAENS, Michel P. HERMANS, Benoit BOLAND, Séverine HENRARD
BMC Endocrine Disorders.2019;[Epub] CrossRef
Validity of diagnostic codes and estimation of prevalence of diabetic foot ulcers using a large electronic medical record database
Avivit Cahn, Talya Altaras, Tal Agami, Ori Liran, Colette E. Touaty, Michel Drahy, Rena Pollack, Itamar Raz, Gabriel Chodick, Inbar Zucker
Diabetes/Metabolism Research and Reviews.2019;[Epub] CrossRef
Response: Comparison of Age of Onset and Frequency of Diabetic Complications in the Very Elderly Patients with Type 2 Diabetes (Endocrinol Metab2016;31:416-23, Bong-Ki Lee et al.)
Eun-Hee Cho
Endocrinology and Metabolism.2017; 32(1): 142. CrossRef
Letter: Comparison of Age of Onset and Frequency of Diabetic Complications in the Very Elderly Patients with Type 2 Diabetes (Endocrinol Metab2016;31:416-23, Bong-Ki Lee et al.)
Mee Kyoung Kim
Endocrinology and Metabolism.2017; 32(1): 140. CrossRef

Clinical Study
High Levels of Serum DPP-4 Activity Are Associated with Low Bone Mineral Density in Obese Postmenopausal Women: Sang-Wook Kim, Eun-Hee Cho; Endocrinol Metab. 2016;31(1):93-99. Published online March 16, 2016; DOI: https://doi.org/10.3803/EnM.2016.31.1.93

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Background

Dipeptidyl peptidase 4/CD26 (DPP-4) is a widely expressed cell surface serine protease. DPP-4 inhibitors, one of common anti-diabetic agents play a protective role in bone metabolism in recent studies. A soluble form of DPP-4 is found in serum, and exhibits DPP-4 enzymatic activity. However, the physiological role of serum or soluble DPP-4 and its relationship with DPP-4 enzymatic function remain poorly understood. The aims of current study were to determine the association between serum DPP-4 activity and bone mineral density (BMD) in postmenopausal women.

Methods

We recruited data and serum samples from 124 consecutive healthy postmenopausal women aged >50 years. We divided study subjects into obese (body mass index [BMI] ≥25 kg/m²) and non-obese (BMI <25 kg/m²) postmenopausal women and examined the correlation between serum DPP-4 activity and clinical variables in each groups.

Results

A total of 124 postmenopausal women was enrolled, with a mean age of 59.9±7.1 years. The mean BMI of the study patients was 24.4±2.8 kg/m². Regarding bone turnover markers, serum DPP-4 activity was positively correlated with serum calcium concentrations, intact parathyroid hormone, and serum C-telopeptide levels in all of the study subjects. However, there was no association between serum DPP-4 activity and BMD in the spine or femoral neck in all of the study subjects. Serum DPP-4 activity was negatively correlated (R=−0.288, P=0.038) with BMD of the spine in obese postmenopausal women.

Conclusion

This study demonstrated for the first time that serum soluble DPP-4 activity was negatively correlated with BMD in obese postmenopausal women.

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