Year: 2025
Type: article
Study design: Case Report
Abstract: Maturity-onset diabetes of the young (MODY) is an underdiagnosed form of monogenic diabetes characterized by early-onset, autosomal dominant inheritance, and non-insulin-dependent hyperglycemia. This report presents the case of a 31-year-old male diagnosed with diabetes mellitus four years ago, and initially treated with biphasic insulin due to hyperglycemic symptoms, including polyuria, polydipsia, and weight loss. He had no history of diabetic ketoacidosis. Persistent hyperglycemia despite insulin therapy prompted further evaluation. A strong family history of early-onset diabetes in his father and paternal aunt raised suspicion for MODY. Laboratory investigations showed absent autoantibodies (anti-GAD, anti-ICA) and low C-peptide levels. A trial of glimepiride, a sulfonylurea, led to marked glycemic improvement, allowing complete discontinuation of insulin within six months. This clinical response supported a presumptive diagnosis of MODY, likely the HNF1A or HNF4A subtype, although genetic confirmation is pending due to cost constraints. This report underscores the importance of considering MODY in young patients with atypical diabetes presentations, especially those with a strong family history and antibody-negative, insulin-independent diabetes. Early recognition can guide appropriate therapy, reduce treatment burden, and prompt family screening.
Source: Cureus
DOI: 10.7759/cureus.88211
Author: Jimmy Joseph
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4413051461