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Case Reports
. 2011 May;158(5):852-4.
doi: 10.1016/j.jpeds.2011.01.003. Epub 2011 Feb 24.

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

Mia M Pingul  1 , Nkecha Hughes, Anthony Wu, Charles A Stanley, Philip A Gruppuso
Affiliations
Case Reports

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

Mia M Pingul et al. J Pediatr. 2011 May.

Abstract

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 4α. Genetic testing was a factor in choosing sulfonylurea therapy for diabetes.

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