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Maturity-onset diabetes of the young — SCE Endocrinology MCQ

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HardDiabetesMaturity-onset diabetes of the youngSCE Endocrinology

A 23-year-old man with diabetes diagnosed at age 17 has an HbA1c of 54 mmol/mol on low-dose gliclazide. He is lean, has no ketonuria and his mother and maternal grandfather were diagnosed with diabetes before age 30. Fasting C-peptide is preserved and GAD antibodies are negative. What is the most appropriate next investigation?

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Correct answer: B — Genetic testing for HNF1A/HNF4A-related MODY

The family history across successive generations, young onset, preserved C-peptide and negative autoantibodies suggest monogenic diabetes. HNF1A/HNF4A MODY is classically sulfonylurea-sensitive. A pituitary or adrenal work-up would not address the inherited beta-cell phenotype.

Reference: Diabetes UK monogenic diabetes guidance, NICE NG17