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

Author : Arfa Saleem

Abstract :Maturity-Onset Diabetes of the Young (MODY) is a rare, monogenic form of diabetes that accounts for 1-5% of all diabetes cases. 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 mutations in genes involved in pancreatic beta-cell function. To date, over 14 genetic subtypes have been identified, with HNF1-alpha, being the most common, this gene causes about 70 per cent of cases of MODY. It causes diabetes by lowering the amount of insulin made by the pancreas. In this report, we highlight a case of a young female presenting with clinical features usually seen in chronic cases of T2DM such as a non healing wound on her foot but who reported no other symptoms typically seen in diabetics. Clinical suspicion of MODY was raised due to 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 HbA1c level was also found to be 14.6% (the normal range for the HbA1c level is between 4% and 5.6%). Given this history and atypical presentation, Maturity-Onset Diabetes of the Young (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

Keywords :MODY, monogenic diabetes, HNF1-alpha mutation, early-onset diabetes, genetic screening

Conference Name :International Conference on Diabetes, Albuminuria Management and Technology (ICDAMT-25)

Conference Place Karachi, Pakistan

Conference Date 17th May 2025