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Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations

2010; Oxford University Press; Volume: 162; Issue: 5 Linguagem: Inglês

10.1530/eje-09-0861

1479-683X

Sarah E. Flanagan, Ritika R. Kapoor, G Mali, Declan Cody, Nuala Murphy, Bernd Schwahn, Tania Siahanidou, Indraneel Banerjee, Teoman Akçay, Oscar Rubio‐Cabezas, Julian Hamilton‐Shield, Khalid Hussain, Sian Ellard,

Diabetes Management and Research

The phenotype associated with heterozygous HNF4A gene mutations has recently been extended to include diazoxide responsive neonatal hypoglycemia in addition to maturity-onset diabetes of the young (MODY). To date, mutation screening has been limited to patients with a family history consistent with MODY. In this study, we investigated the prevalence of HNF4A mutations in a large cohort of patients with diazoxide responsive hyperinsulinemic hypoglycemia (HH).