Differing MODY subtypes in a single family: A case report on monogenic diabetes, a CARE-compliant article.

rationaleMature Onset Diabetes of the Young (MODY) is a monogenic form of diabetes that presents distinct diagnostic challenges due to its clinical similarities with type 1 and type 2 diabetes. MODY results from specific genetic mutations affecting pancreatic beta cell function, and its inheritance pattern is autosomal dominant. This case report details a unique instance of differing MODY types within a single family, highlighting the diagnostic complexity and genetic variability of the disease. PATIENT CONCERNS: A 58-year-old male patient with unexplained hypercholesterolemia and hyperglycemia. DIAGNOSES: He was diagnosed with MODY type 1 by subsequent genetic testing revealing a mutation in the hepatic nuclear factor 4 alpha gene.

interventionsTreatment with glimepiride led to significant improvements in his metabolic profile. OUTCOMES: The patient's diagnosis prompted genetic testing of his only child, who was found to have a different form of MODY, type 2, associated with a glucokinase gene mutation. This finding of differing MODY subtypes within one family is particularly noteworthy, given the typically consistent genetic transmission of MODY. LESSONS: This case underscores the importance of accurate genetic diagnosis in the management of MODY and suggests that genetic testing should be considered more broadly in families with a history of diabetes, even when the clinical presentations vary. The identification of different MODY subtypes within a single family not only enhances our understanding of the disease's genetic diversity but also has significant implications for personalized treatment strategies.