Neonatal hyperinsulinaemic hypoglycaemia and monogenic diabetes due to a heterozygous mutation of the HNF4A gene
Article first published online: 15 JUN 2009
© 2009 The Authors. Journal compilation © 2009 The Royal Australian and New Zealand College of Obstetricians and Gynaecologists
Australian and New Zealand Journal of Obstetrics and Gynaecology
Volume 49, Issue 3, pages 328–330, June 2009
How to Cite
CONN, J. J., SIMM, P. J., OATS, J. J. N., NANKERVIS, A. J., JACOBS, S. E., ELLARD, S. and HATTERSLEY, A. T. (2009), Neonatal hyperinsulinaemic hypoglycaemia and monogenic diabetes due to a heterozygous mutation of the HNF4A gene. Australian and New Zealand Journal of Obstetrics and Gynaecology, 49: 328–330. doi: 10.1111/j.1479-828X.2009.01009.x
- Issue published online: 15 JUN 2009
- Article first published online: 15 JUN 2009
- Received 4 October 2008; accepted 28 February 2009.
- HNF4A gene mutation;
- monogenic diabetes;
- neonatal hypoglycaemia
Recent research has demonstrated that mutations of the hepatocyte nuclear factor 4-alpha (HNF4A) gene are associated with neonatal hyperinsulinaemic hypoglycaemia. Mutations of this gene also cause one of the subtypes of monogenic diabetes, a form of diabetes formerly known as maturity-onset diabetes of the young. This article describes a family discovered to have a novel frame-shift mutation of the HNF4A gene in the setting of early-onset maternal diabetes and severe neonatal hyperinsulinaemic hypoglycaemia. The implications of a diagnosis of HNF4A gene mutation for obstetric and paediatric practice are discussed.