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General Medicine · Diabetes: monogenic diabetes (MODY)
Sample itemA lean 19-year-old woman has mild hyperglycaemia found at screening, with no ketosis. Her father was diagnosed with diabetes at 25 and her grandmother at 30, both treated with tablets. Anti-GAD antibodies are negative and there is no pancreatic calcification. What is the most likely diagnosis and treatment?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
A. Monogenic diabetes (HNF1A MODY), responsive to low-dose sulfonylurea
MODY is an autosomal dominant monogenic diabetes presenting before 25 to 30 years in non-obese people with a multigenerational family history, no autoimmunity and no ketosis. HNF1A and HNF4A types are sensitive to low-dose sulfonylureas, while GCK mutations cause mild stable hyperglycaemia that needs no treatment. Genetic testing confirms the diagnosis.
Option by option
A. Monogenic diabetes (HNF1A MODY), responsive to low-dose sulfonylurea (correct)
Early onset across three generations without autoimmunity or ketosis indicates MODY, and HNF1A is sulfonylurea-sensitive.
B. Latent autoimmune diabetes, needing early insulin
Latent autoimmune diabetes needs positive islet antibodies, which are negative here.
C. Fibrocalculous pancreatic diabetes, needing enzymes and insulin
Fibrocalculous pancreatic diabetes requires pancreatic calcification, which is absent.
D. Type 1 diabetes, needing basal-bolus insulin
Type 1 diabetes shows autoimmunity, ketosis and rapid insulin dependence, which are absent.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
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