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

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.