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  • Title: Neonatal hyperinsulinaemic hypoglycaemia and monogenic diabetes due to a heterozygous mutation of the HNF4A gene.
    Author: Conn JJ, Simm PJ, Oats JJ, Nankervis AJ, Jacobs SE, Ellard S, Hattersley AT.
    Journal: Aust N Z J Obstet Gynaecol; 2009 Jun; 49(3):328-30. PubMed ID: 19566570.
    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.
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