Endocrinology and Metabolism

Brief Report

Diabetes, Obesity and Metabolism
Growth in Children with HLA-Conferred Susceptibility to Type 1 Diabetes: Liisa Saare, Aleksandr Peet, Vallo Tillmann; Endocrinol Metab. 2022;37(1):175-179. Published online February 28, 2022; DOI: https://doi.org/10.3803/EnM.2021.1262

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The incidence of type 1 diabetes (T1D) is increasing throughout the world. This trend may be explained by the accelerator hypothesis. Our study investigated growth, its biochemical markers, and their associations with the development of diabetes-associated autoantibodies (DAAB) in 219 children with genetic risk for T1D. Subjects were divided into risk groups based on their human leukocyte antigen genotype. Children in the moderate- to high-risk group were significantly taller when corrected to mid-parental height and had a lower insulin-like growth factor 1 (IGF-1)/IGF-1 binding protein (IGFBP-3) molar ratio than those in the low-risk group (corrected height standard deviation score 0.22±0.93 vs. –0.04±0.84, P<0.05; molar ratio 0.199±0.035 vs. 0.211+0.039, P<0.05). Children with DAAB tended to be taller and to have a higher body mass index than those with no DAAB. Our results suggest that the accelerator hypothesis explaining the increasing incidence of T1D may not solely be dependent on environmental factors, but could be partially genetically determined.

Citations

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Association between disease duration, GH-IGF-1 axis markers, and linear growth in children with type 1 diabetes mellitus: a cross-sectional study
Feruzakhan Uvaidillaeva, Rustam Tukhvatshin, Valeriia Kniazeva, Baktygul Omurkulova
Heart, Vessels and Transplantation.2026;[Epub] CrossRef

Case Reports

Thyroid
Celiac Disease in a Predisposed Subject (HLA-DQ2.5) with Coexisting Graves' Disease: In Kyoung Hwang, Seon Hye Kim, Unjoo Lee, Sang Ouk Chin, Sang Youl Rhee, Seungjoon Oh, Jeong-Taek Woo, Sung-Woon Kim, Young Seol Kim, Suk Chon; Endocrinol Metab. 2015;30(1):105-109. Published online March 27, 2015; DOI: https://doi.org/10.3803/EnM.2015.30.1.105

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Abstract PDF PubReader

Celiac disease is an intestinal autoimmune disorder, triggered by ingestion of a gluten-containing diet in genetically susceptible individuals. The genetic predisposition is related to human leukocyte antigen (HLA) class II genes, especially HLA-DQ2-positive patients. The prevalence of celiac disease has been estimated to be ~1% in Europe and the USA, but it is rarer and/or underdiagnosed in Asia. We report a case of celiac disease in a predisposed patient, with a HLA-DQ2 heterodimer, and Graves' disease that was treated successfully with a gluten-free diet. A 47-year-old woman complained of persistent chronic diarrhea and weight loss over a 9 month period. Results of all serological tests and stool exams were negative. However, the patient was found to carry the HLA DQ2 heterodimer. Symptoms improved after a gluten-free diet was initiated. The patient has been followed and has suffered no recurrence of symptoms while on the gluten-free diet. An overall diagnosis of celiac disease was made in a genetically predisposed patient (HLA-DQ2 heterodimer) with Graves' disease.

Citations

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Prevalence of genetic markers of celiac disease in different populations
G. N. Yankina, E. I. Kondratieva, E. V. Loshkova
Archives of Pediatrics and Pediatric Surgery.2025; 2(3): 27. CrossRef
Case Series: Is Celiac Disease Underdiagnosed in Korean Children?
Ji Hyun Moon, Anna Pham-Short, Cheng Hiang Lee, Susan Siew, Nicole Graf, Yoon Hi Cho
The Korean Journal of Gastroenterology.2025; 85(3): 408. CrossRef
Celiac Disease Genetics, Pathogenesis, and Standard Therapy for Japanese Patients
Tasuku Tamai, Kenji Ihara
International Journal of Molecular Sciences.2023; 24(3): 2075. CrossRef
Underutilization of diagnostic assays for celiac disease in Korea
Rihwa Choi, Sang Gon Lee, Eun Hee Lee
Journal of Clinical Laboratory Analysis.2021;[Epub] CrossRef
Olmesartan is not associated with the risk of enteropathy: a Korean nationwide observational cohort study
Seng Chan You, Hojun Park, Dukyong Yoon, Sooyoung Park, Boyoung Joung, Rae Woong Park
The Korean Journal of Internal Medicine.2019; 34(1): 90. CrossRef
Prevalence of celiac disease in Asia: A systematic review and meta‐analysis
Prashant Singh, Shubhangi Arora, Alka Singh, Tor A Strand, Govind K Makharia
Journal of Gastroenterology and Hepatology.2016; 31(6): 1095. CrossRef

Diabetes, Obesity and Metabolism
Recurrent Insulin Autoimmune Syndrome Caused by α-Lipoic Acid in Type 2 Diabetes: Sang Mook Bae, Myoung Nam Bae, Eun Young Kim, Il Kyu Kim, Min Woo Seo, Jin Kyeong Shin, Sung Rae Cho, Gui Hwa Jeong; Endocrinol Metab. 2013;28(4):326-330. Published online December 12, 2013; DOI: https://doi.org/10.3803/EnM.2013.28.4.326

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Abstract PDF PubReader

Insulin autoimmune syndrome (IAS) is characterized by spontaneous hypoglycemia caused by insulin autoantibodies in the absence of exogenous insulin administration. Some drugs containing sulfhydryl compounds are known to initiate the onset of IAS. A 67-year-old female who had diabetes for 5 years visited the outpatient clinic at our institution due to diabetic peripheral polyneuropathy. She was prescribed α-lipoic acid (ALA), which contains two sulfur atoms. Two weeks later, she complained of recurrent hypoglycemic symptoms. We detected a high level of insulin and high titers of insulin autoantibodies. Her human leukocyte antigen (HLA) genotype included the DRB1*0406 allele, which indicates a high level of susceptibility to IAS. She was treated with prednisolone. After this episode, she experienced two more hypoglycemic events after taking ALA for diabetic neuropathy in other hospitals. As ALA can be used to treat diabetic peripheral polyneuropathy, physician discretion is advised based on the possibility of IAS due to ALA in diabetic patients.

Citations

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HLA Alleles Associate with Insulin Autoimmune Syndrome
Dan Yao, Jiefeng Jiang, Qianyun Zhou, Caiyun Feng, Jianping Chu, Zhiyan Chen, Jie Yang, Jinying Xia, Yujia Chen
Diabetes, Metabolic Syndrome and Obesity.2024; Volume 17: 3463. CrossRef
Hypoglycemia and Multivitamins
Vaishnavi Revankar, Parth Lakhpatia, Suchitra Kelkar, Sangeeta Chincholkar, Kuldeep Dalal, Kanchan Kewalramani
Journal of The Association of Physicians of India.2024; 72(8): 99. CrossRef
Long-term follow-up after discharge witnesses a slow decline of insulin autoantibodies in patients with insulin autoimmune syndrome complicated with Grave’s disease: a report of two cases
Lili Zhao, Jinzhi He, Shandong Ye, Chao Chen, Jie Zhu, Chunchun Xiao, Tingni Wu, Zhicheng Liu
BMC Endocrine Disorders.2023;[Epub] CrossRef
Postprandial hyperinsulinemic hypoglycemia
A. A. Akmedova, F. O. Ushanova
FOCUS. Endocrinology.2023; 4(3): 74. CrossRef
Effects of alpha lipoic acid on metabolic syndrome: A comprehensive review
Nahid Najafi, Soghra Mehri, Mahboobeh Ghasemzadeh Rahbardar, Hossein Hosseinzadeh
Phytotherapy Research.2022; 36(6): 2300. CrossRef
Alpha-Lipoic Acid and Glucose Metabolism: A Comprehensive Update on Biochemical and Therapeutic Features
Umberto Capece, Simona Moffa, Ilaria Improta, Gianfranco Di Giuseppe, Enrico Celestino Nista, Chiara M. A. Cefalo, Francesca Cinti, Alfredo Pontecorvi, Antonio Gasbarrini, Andrea Giaccari, Teresa Mezza
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Dominique Turck, Jacqueline Castenmiller, Stefaan de Henauw, Karen Ildico Hirsch‐Ernst, John Kearney, Helle Katrine Knutsen, Inge Mangelsdorf, Harry J McArdle, Androniki Naska, Carmen Pelaez, Kristina Pentieva, Alfonso Siani, Frank Thies, Sophia Tsabouri,
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A Case of Fulminant Type 1 Diabetes Mellitus with Human Leukocyte Antigen DR4-DQ4.: Ye Ri So, Ja Won Koo, Young Hak Cho, You Cheol Hwang, Kyu Jeung Ahn, Ho Yeon Chung, In Kyung Jeong; Endocrinol Metab. 2012;27(4):314-317. Published online December 20, 2012; DOI: https://doi.org/10.3803/EnM.2012.27.4.314

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Abstract PDF: The clinical characteristics of fulminant type 1 diabetes are abrupt onset of disease, very short (<1 week) duration of diabetic symptoms, ketoacidosis at diagnosis, negativity for islet-related autoantibodies, virtually no C-peptide secretion (fasting plasma C-peptide <0.3 ng/mL), a near normal hemoglobin A1c (HbA1c) level and an elevated serum pancreatic enzyme level. The pathogenesis has not yet been clarified, however the involvement of both genetic background and viral infections has been suggested. We reported a case of fulminant type 1 diabetes. A 37-year-old woman was admitted with stuporous consciousness to our hospital. Four days prior to the admission, she was hospitalized with the diagnosis of acute pancreatitis in another hospital, and at that time her glucose level was 79 mg/dL. Three days after the hospitalization, her state of consciousness became stuporous and she was transferred to our hospital. The laboratory results were as follows: pH 6.94, glucose 1,602 mg/dL, and HbA1c 5.5%. She was negative for islet-related autoantibodies and viral antibodies. HLA haplotypes were DRB1*04:05/*04:06, DQB1*03:02/*04:01 which might be a considerable risk allele for fulminant type 1 diabetes. She was diagnosed with fulminant type 1 diabetes, and has been treated with multiple component insulin regimens.

Original Articles

HLA, CTLA-4 and TNF-beta Gene Polymorphisms and Disease Susceptibility in Korean Children with Graves' Disease.: Moon Young Song, Min Ho Jung, Jun Seong Lee, Tai Gyu Kim, Sei Won Yang, Byung Churl Lee; J Korean Endocr Soc. 2003;18(1):32-44. Published online February 1, 2003

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Abstract PDF: BACKGROUND
Graves' disease(GD) is an organ-specific autoimmune disorder that is inherited as a complex trait. At present three loci, namely the human leukocyte antigen(HLA), the cytotoxic T lymphocyte antigen-4(CTLA-4) and a thyroid stimulating hormone receptor(TSHR) are the only well-known genetic determinants for GD. To understand the mechanisms underlying the development of GD, we investigated the relationship of HLA alleles, polymorphisms of CTLA-4 gene and the tumor necrosis factor(TNF)-beta gene, with the disease susceptibility. METHODS: Fifty-two Korean children with GD(45 girls and 7 boys), and 119 healthy children, were investigated in this study. The HLA alleles were determined by a standard lymphocyte microtoxicity technique, ARMS-PCR(Amplification Refractory Mutation System-Polymerase Chain Reaction), PCR-SSP(Sequence Specific Primer) and PCR-SSOP(Sequence Specific Oliogonucleotide Probe) method. The CTLA-4 gene polymorphism was analyzed by PCR-SSCP(Single Strand Conformation Polymorphism), and the TNF-beta gene polymorphism by PCR-RFLP(Restriction Fragment Length Polymorphism). RESULTS: (1) The frequencies of HLA-A2, B46, DRB1*08 and DPB1*0202 were significantly increased, and those of HLA-A24, DQA1*01 and DQB1*05 were significantly decreased, in the GD patients compared to the control subjects. (2) A significant difference in the distributions of the AA, AG, and GG genotypes of the CTLA-4 exon 1 were observed between the GD patients and the control subjects, and a significant increase in the frequency of the G (alanine) allele was seen in the GD patients compared with the control subjects(84.6% vs 63.4%; RR=3.2; p<0.0001). A significant difference in the distributions of the AA, AG, and GG genotypes of the CTLA-4 exon 1 was observed between the GD patients with and without exophthalmos. A significant increase in the frequency of the G allele was seen in the GD patients with exophthalmos compared to those without(94.0% vs 75.9%; RR=7.0; p<0.05). (3) No significant difference in the distributions of the 1/1, 1/2 and 2/2 genotypes, and the 1 and 2 alleles of TNF-beta was observed between the GD patients and the control subjects. No significant difference in the distributions of the 1/1, 1/2, and 2/2 genotypes and the 1 and 2 alleles of TNF-beta were observed between the GD patients with or without exophthalmos but a significant increase in the frequency of the 2/2 allele was seen in the GD patients having TSHRAb > or =45% compared with GD patients having TSHRAb <45%(37.5% vs 3.6%; RR=14.8; p<0.01). CONCLUSION: These data suggest that HLA-A2, B46, Cw*0102, DRB1*08 and DPB1*0202 are markers for disease susceptibility, and that HLA-A24, DQA1*01 and DQB1*05 are markers for disease protection, in Korean children with GD. This study showed that the CTLA-4 gene polymorphism was an additional marker of susceptibility in the GD patients, and was associated with exophthalmos, and that the TNF-beta gene polymorphism was associated with the TSHRAb activity.

Three Cases of Autoimmune Thyroid Disease in a Family through Three Generation.: Byoung youp Kim, Min young Lee, In Gyun Oh, DO Hyoung Kim, Hak Chan Kim, Sang Eok Kim, Seung Hae Han, Dong Hoon Shin, Eun Sil Kim, Chong Soon Kim; J Korean Endocr Soc. 2001;16(2):238-244. Published online April 1, 2001

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Abstract PDF: According to recent studies, the immunogenetic factors are thought to be account for a part of the etiopathogenesis of autoimmune thyroid disease. In Korea, there was one report on the relationship between HLA DR5, DR8, B13 and autoimmune thyroid disease. There were also several reports on a familial hereditary transmission of autoimmune thyroid disease in other countries but not in Korea. We describe the occurrence of autoimmune thyroid disease that affected three members of a family through three generations. This is the first report on familial hereditary transmission of autoimmune thyroid disease in Korea. We report on an 80-year-old woman who presented with Hashimoto's thyroiditis, her 53-year-old daughter who had Graves' disease, and her 29-year-old grand-daughter who had Graves' disease. In order to identify the immunogenetic influence in these cases, HLA haplotypes & thyroid autoantibody were studied. HLA DRB3*02 was obseved in each of the patents. HLA DQB1*0301, DR11, DQB1*05031 and DR14 were observed in the two cases. However, HLA B13, DR5 and DR8 were not observed. The patients are currently undergoing follow-up using PTU, methimazole and synthyroid medication.

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