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Please prepare and upload your E-Poster no later than March 14, 2026 11.59PM CET. After this date, you will no longer be able to prepare and upload your E-poster and it will not be displayed and accessible on the congress website.
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Maturity-onset diabetes of the young (MODY) Type 5 is a rare monogenic form of diabetes mellitus (DM), caused by mutations in Hepatocyte Nuclear Factor 1-β (HNF1β) gene, characterized by pancreatic beta-cell dysfunction and a wide spectrum of renal and extrapancreatic anomalies. Due to its overlapping features with type 1 and type 2 DM, MODY 5 is often underrecognized, leading to diagnostic delays and suboptimal management. This case highlights the importance of early recognition of MODY in young adults presenting with atypical features, as timely diagnosis enables targeted management and improved outcomes.
We report a case of a 29-year-old female with a body mass index of 27.7 kg/m2 and a positive family history of presumed Type 2 DM, who presented with poorly controlled blood glucose levels and renal dysfunction. She first presented with incidental hyperglycemia at the age of 17 and was formally diagnosed with Type 2 DM at the age of 21. She then developed persistent hyperglycemia, diabetic retinopathy, and biopsy-proven diabetic nephropathy, but remained non-adherent to therapy, leading to progressive renal dysfunction eventually requiring hemodialysis. The combination of early-onset diabetes, autosomal-dominant inheritance pattern, and early renal involvement raised suspicion for a monogenic cause, hence genetic testing was done, which revealed a heterozygous HNF1b Exon 7, c.1390G>A (p.Gly464Ser) variant, establishing the diagnosis of MODY 5. Following counseling, the patient demonstrated improved adherence to therapy and encouraged family members to undergo genetic screening.
MODY 5, resulting from mutations in HNF1b, is a rare subtype of MODY, representing only 5% of cases. It exhibits striking phenotypic variability, encompassing a wide range of pancreatic and extrapancreatic abnormalities. Notably, chronic kidney disease (CKD) often emerges as the first clinical manifestation, preceding the onset of diabetes in 50% of cases. In view of this, MODY 5 should therefore be suspected in young patients presenting with both diabetes and CKD, particularly when there is a strong family history or when nephropathy develops before or shortly after the diagnosis of diabetes. Management centers on early recognition and treatment of renal involvement, alongside prompt, intensive glycemic control to mitigate hyperglycemia and delay the development of microvascular and macrovascular complications.
This case highlights the importance of recognizing MODY 5 in young adults presenting with atypical diabetes and early CKD. Timely genetic testing enables precision-based management, delays disease progression, and enables risk stratification and early intervention among affected families.
