A Diabetic Imposter: A Case Report on MODY 13 Coexisting with Charcot-Marie-Tooth IJ Syndrome

Abstract

Maturity-onset diabetes of the young (MODY) is a rare, inherited form of diabetes caused by a single gene defect affecting insulin secretion. It typically presents at a young age, runs in families, and differs from common types of diabetes by preserving endogenous insulin production, often allowing treatment with oral agents instead of insulin. However, it is frequently misdiagnosed. We describe an unusual case of MODY 13 due to a KCNJ11 mutation in a young adult initially treated as type 1 diabetes, who demonstrated a significant response to sulfonylurea therapy. The case is further distinguished by advanced multisystem complications and a rare coexisting genetic variant, highlighting the diagnostic challenges and clinical significance of recognizing this uncommon entity.