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

Mature 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.

A 58-year-old male patient with unexplained hypercholesterolemia and hyperglycemia.

He was diagnosed with MODY type 1 by subsequent genetic testing revealing a mutation in the hepatic nuclear factor 4 alpha gene.

Treatment with glimepiride led to significant improvements in his metabolic profile.

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.

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.