Unmasking Diabetes in a Young Adult Male: A Case Report

TL;DR

A young man with diabetes was found to have MODY, a rare genetic form of diabetes, based on family history and response to medication.

Contribution

Highlights the diagnostic value of clinical features and treatment response in identifying MODY in young adults.

Findings

The patient showed significant glycemic improvement with glimepiride, suggesting MODY.

Autoantibodies were absent, and C-peptide levels were low, supporting a non-autoimmune, monogenic diabetes diagnosis.

Family history and clinical response suggest HNF1A or HNF4A MODY subtype.

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.

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