Work

Non-type 1 and non-type 2 diabetes in a young man due to novel mutation in HNF1A

Year: 2025

Type: article

Abstract: Maturity-onset diabetes of the young (MODY) is an autosomal dominant monogenic form of diabetes. This report describes a case with hepatocyte nuclear factor 1-alpha ( HNF1A )-MODY due to a novel heterozygous HNF1A mutation. The patient presented with hyperglycaemia and glycosuria in the absence of diabetic ketoacidosis. Family history was notable for early-onset diabetes. Genetic testing confirmed a previously unreported pathogenic HNF1A variant. Treatment with a GLP-1 receptor agonist and metformin reduced glycated haemoglobin from 10.2% to 6.0% within 3 months. This case highlights the importance of genetic screening in early-onset diabetes, which is frequently misdiagnosed as type 1 or type 2 diabetes, and expands the spectrum of HNF1A mutations relevant to precision medicine.

Source: BMJ Case Reports

DOI: 10.1136/bcr-2025-265503

Authors: Yi-Chen Liu, Sheng-Chiang Su, Feng-Chih Kuo, Yi-Jen Hung, Yen-Lin Chen

Institutions: Tri-Service General Hospital, National Defense Medical Center

Language: English

Topic: Diabetes and associated disorders

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: hybrid

OpenAlex ID: W4417427426