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CC BY 4.0 · Avicenna J Med
DOI: 10.1055/s-0045-1802584
Case Report

When to Consider a Diagnosis of Maturity-Onset Diabetes of the Young: Precise Diagnosis Leads to Better Management and Quality of Life for the Patients

Yujia Gao 
1   UCL Medical School, University College London, London, United Kingdom
,
Kalyan Mansukhbhai Shekhda 
2   Department of Diabetes and Endocrinology, Royal Free London NHS Foundation Trust, Pond St, London, United Kingdom
,
Sarah N. Ali
2   Department of Diabetes and Endocrinology, Royal Free London NHS Foundation Trust, Pond St, London, United Kingdom
› Institutsangaben Funding None.
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Abstract

Maturity-onset diabetes of the young (MODY) is often misclassified and can significantly impact the management of these patients and their families. We present three cases initially diagnosed as type 1 diabetes mellitus (T1DM), type 2 diabetes mellitus (T2DM), and fasting hyperglycemia, which were later identified as MODY. A 38-year-old Caucasian lady, previously diagnosed with T2DM, was referred to the diabetes antenatal clinic. She was treated with gliclazide and metformin before pregnancy. She required insulin glargine during her pregnancy. Her diabetes autoantibodies were negative. MODY was suspected and genetic testing confirmed HNF1A MODY gene mutation. A 57-year-old Caucasian lady was diagnosed with T1DM at the age of 18 years. Since diagnosis, she was treated with insulin glargine without any short-acting insulin, yet persistently suffered from hypoglycemia. MODY was suspected and genetic testing confirmed HNF4A gene mutation. A 33-year-old South Asian lady was referred to a diabetes clinic for suspected T2DM due to strong family history of T2DM, ethnicity, and persistently elevated fasting blood glucose levels. Her genetic testing confirmed GCK-MODY (Glucokinae-maturity-onset diabetes of the young). MODY represents a group of genetic diabetes that can often go unrecognized due to misdiagnosis. Achieving an accurate diagnosis is important as it guides appropriate treatment strategies, improves patient outcomes, and has an impact on other family members due to the hereditary nature of the condition. Employing a systematic approach is crucial. Our cases highlight that it is never too late to challenge the diabetes classification.

Keywords

MODY - genetic diabetes - HNF1A - HNF4A - GCK-MODY

Authors' Contribution

The manuscript has been read and approved by all the authors, requirement of authorship has been met, and all authors believe that the manuscript represents honest work. All the authors provided substantial contribution to concept, draft, and final approval of the manuscript.




Publikationsverlauf

Artikel online veröffentlicht:
11. Februar 2025

© 2025. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)

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