Hepatocyte nuclear factor 4alpha gene mutation associated with familial neonatal hyperinsulinism and maturity-onset diabetes of the young.

摘要

Neonatal macrosomia and hyperinsulinemic hypoglycemia with strong family history of diabetes may indicate monogenic diabetes. Here we report a family in which 4 individuals in 3 generations were found to have a mutation (Arg80Gln) in hepatocyte nuclear factor 4alpha. Genetic testing was a factor in choosing sulfonylurea therapy for diabetes.