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From gene to disease; congenital adrenal hypoplasia and the DAX-1 gene

Verrijn Stuart, A.A.; de Vroede, M.A.M.J.; Giltay, J.C.

Nederlands Tijdschrift Voor Geneeskunde 149(21): 1156-1158

2005

ISSN/ISBN: 0028-2162
PMID: 15940919
Document Number: 588329
Congenital adrenal hypoplasia is an X-linked disorder resulting in adrenocortical deficiency, failure to complete puberty due to hypogonadotrophic hypogonadism, and infertility. The disease is caused by mutations in the DAX-1 gene. The DAX-1 protein is a transcription inhibitor; it represses the transcription of other, as yet mostly unknown, genes. Mutation analysis can confirm a clinical diagnosis of congenital adrenal hypoplasia. An early diagnosis might prevent critical damage due to an adrenal crisis in an undiagnosed patient. Molecular testing can be used for carrier detection and genetic counselling.

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