Neonatal hyperinsulinaemic hypoglycaemia and monogenic diabetes due to a heterozygous mutation of the HNF4A gene.

Full Abstract

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.

Author information

Author/s: Conn, Jennifer J (JJ); Simm, Peter J (PJ); Oats, Jeremy J N (JJ); Nankervis, Alison J (AJ); Jacobs, Susan E (SE); Ellard, Sian (S); Hattersley, Andrew T (AT);

Journal and publication information

Publication Type: Case Reports; Letter

Journal: The Australian & New Zealand journal of obstetrics & gynaecology (Aust N Z J Obstet Gynaecol), published in Australia. (Language: eng)

Reference: 2009-Jun; vol 49 (issue 3) : pp 328-30

Dates: Created 2009/07/01; Completed 2009/10/05;

PMID: 19566570, status: MEDLINE (last retrieval date: 10/5/2009, IMS Date: )

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