Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A.

ABSTRACT:

Context

Inactivating mutations in HNF1A and HNF4A cause the maturity-onset diabetes of youth (MODY)-3 and MODY1 forms of monogenic diabetes, respectively. Children carrying HNF4A (MODY1) mutations can present in early infancy with macrosomia and diazoxide-responsive hyperinsulinism.

Objective

Our objective was to describe three novel cases of hyperinsulinism associated with MODY1 and MODY3 mutations.

Research design and methods

Clinical data were obtained from chart review. Gene sequencing was performed on genomic DNA.

Results

Case 1 was diagnosed at 20 months with persistent hyperinsulinemic hypoglycemia and was found to have a novel MODY3 HNF1A mutation, carried by her father who had diabetes. Case 2 was diagnosed with diazoxide-responsive hyperinsulinism at

SUBMITTER: Stanescu DE 

PROVIDER: S-EPMC3674296 | biostudies-literature | 2012 Oct

REPOSITORIES: biostudies-literature