A rare case of maturity onset diabetes of young (MODY)

 

Abstract              Maturity Onset Diabetes of Young (MODY) refers to any of the several hereditary forms of Diabetes Mellitus (DM) caused by mutations in an autosomal dominant gene disrupting insulin production or insulin secretion. MODY is often referred to as “Monogenic Diabetes” to distinguish it from the more common types of diabetes mellitus (especially type1 and type 2). MODY 3 caused by hepatocyte nuclear factor1 alpha (HNF 1 alpha) mutation is the most common form of MODY accounting for 52-65% of all MODY cases. We present a challenging case of young adult male with MODY 3 due to HNF 1 alpha mutation who was treated as type 1 diabetic with insulin for 6 years. His A1C remained well controlled but at the expense of frequent hypoglycemic episodes. He finally received an accurate diagnosis of MODY 3 with genetic analysis. Insulin was transitioned to low dose sulfonylurea with a decrease in the frequency of hypoglycemic episodes. Our case highlights the importance of MODY gene analysis for diagnostic confirmation in such rare patients as a right diagnosis has clinical and therapeutic implications.

Key Word: maturity onset diabetes of young.