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Hepatocyte nuclear factor 4α (HNF4A) is a member of the nuclear receptor family of ligand‐activated transcription factors. HNF4A mutations cause hyperinsulinaemic hypoglycaemia in early life and maturity‐onset diabetes of the young. Regular screening of HNF4A mutation carriers using the oral glucose tolerance test has been recommended to diagnose diabetes mellitus at an early stage. Glucagon‐like peptide‐1 and glucose‐dependent insulinotropic polypeptide are incretin hormones, responsible for up to 70% of the secreted insulin after a meal in healthy individuals. We describe, for the first time, gradual alteration of glucose homeostasis in a patient with HNF4A mutation after resolution of hyperinsulinaemic hypoglycaemia, on serial oral glucose tolerance testing. We also measured the incretin response to a mixed meal in our patient.

Our patient was born with macrosomia and …