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The Journal of pediatrics · May 2011
Case ReportsHepatocyte nuclear factor 4α gene mutation associated with familial neonatal hyperinsulinism and maturity-onset diabetes of the young.
- Mia M Pingul, Nkecha Hughes, Anthony Wu, Charles A Stanley, and Philip A Gruppuso.
- Division of Pediatric Endocrinology and Metabolism, Rhode Island Hospital and Brown University, Providence, RI, USA.
- J. Pediatr. 2011 May 1; 158 (5): 852-4.
AbstractNeonatal 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.Copyright © 2011 Mosby, Inc. All rights reserved.
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