Maturity-Onset Diabetes of the Young (MODY) Presenting With a Diabetic Foot Ulcer: A Case Report

TL;DR

A young woman with a diabetic foot ulcer and no typical diabetes symptoms was diagnosed with MODY, highlighting the need for early genetic testing in similar cases.

Contribution

This case report emphasizes the importance of considering MODY in young patients with atypical diabetes presentations and strong family histories.

Findings

The patient had a diabetic foot ulcer and high HbA1c but no typical diabetes symptoms.

Antibody and C-peptide tests indicated preserved beta-cell function, supporting MODY diagnosis.

The case highlights the value of genetic testing for accurate diagnosis and family screening.

Abstract

Maturity-onset diabetes of the young (MODY) is a rare form of diabetes that accounts for a minority of all reported cases of diabetes. Unlike the more common forms of diabetes, MODY typically presents in adolescents or young adults, usually before the age of 25. It is characterized by autosomal dominant inheritance and results from gene mutations involved in pancreatic beta-cell function. To date, 14 genetic subtypes have been identified, each with slightly different presentations and differing in their response to standardized treatment.

In this report, we highlight a case of a young female presenting with clinical features usually seen in chronic cases of type 2 diabetes mellitus, such as non-healing wounds on her foot, but who reported no other symptoms typically seen in diabetics. She was found to have raised fasting blood glucose levels on presentation as well as a strong family history of diabetes (early-onset diabetes in a first-degree relative). Upon testing, her glycated hemoglobin (HbA1c) level was also found to be 14.6% (the normal range for the HbA1c level is usually considered to be below 5.7%). The patient was later advised to undergo anti-GAD65 antibody testing, and a fasting C-peptide level was obtained to evaluate endogenous insulin production. Both tests returned within normal limits, suggesting preserved beta-cell function.

Given this history and atypical presentation, MODY was suspected. This case underscores the importance of considering MODY in young diabetic patients with significant family histories, as early genetic confirmation and personalized management can improve disease outcomes and lead to family screening.

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