ISSN: 2630-5720 | E-ISSN: 2687-346X
Laparoscopic Endoscopic Surgical Science Maturity-Onset Diabetes of the Young-2 (MODY2) in Youth [Haydarpasa Numune Med J]
Haydarpasa Numune Med J. 2024; 64(1): 125-127 | DOI: 10.14744/hnhj.2022.88886

Maturity-Onset Diabetes of the Young-2 (MODY2) in Youth

Ayşe Gümüş Özçelik, Akın Dayan, Memet Taşkın Egici
University of Health Sciences Turkiye, Haydarpasa Numune Training and Research Hospital, Family of Medicine, Istanbul, Turkiye

Maturity-Onset Diabetes of the Young (MODY) is an autosomal dominant inherited monogenic disease that emerges in youth. The primary defect is a loss of beta-cell function, impairing insulin secretion. Its prevalence among all diabetes cases varies between 2% and 5%. The most common forms, MODY2 and MODY3, are caused by mutations in the glucokinase and hepatocyte nuclear factor 1-alpha genes, respectively. MODY2, resulting from heterozygous inactivating mutations of the glucokinase gene, is characterized by mild fasting hyperglycemia. It can be controlled by diet and is considered in cases of familial diabetes, impaired glucose tolerance, or gestational diabetes. This case presents a patient diagnosed with diabetes during pregnancy, who was later found to have the heterozygous p.MET394Thr(c.1181T>C) variation in the GCK gene mutation analysis, a finding also present in her child. Clinically recognizing MODY cases and differentiating them from Type 1 and Type 2 diabetes is crucial in treatment selection. Primary care physicians should consider MODY in the differential diagnosis for diabetes patients, as it can guide early diagnosis and treatment choices.

Keywords: Glucokinase, Hepatocyte Nuclear Factor 1-Alpha, Hyperglycemia.

Ayşe Gümüş Özçelik, Akın Dayan, Memet Taşkın Egici. Maturity-Onset Diabetes of the Young-2 (MODY2) in Youth. Haydarpasa Numune Med J. 2024; 64(1): 125-127

Corresponding Author: Ayşe Gümüş Özçelik, Türkiye
Manuscript Language: English
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