title: [From gene to disease; congenital adrenal hypoplasia and the DAX-1 gene].
abstract: 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.
authors.affiliation: Divisie Kindergeneeskunde, Universitair Medisch Centrum Utrecht, Wilhelmina Kinderziekenhuis, Huispost KC 03.063.0, Postbus 85.090, 3508 AB Utrecht. a.a.verrijnstuart@umcutrecht.nl
authors.forename: A A
authors.initials: AA
authors.lastname: Verrijn Stuart
authors.forename: M A M J
authors.initials: MA
authors.lastname: de Vroede
authors.forename: J C
authors.initials: JC
authors.lastname: Giltay
mesh_terms: D000309:Adrenal Insufficiency / Q000175:diagnosis / Q000235:genetics*; D041321:Chromosomes, Human, X; D057137:DAX-1 Orphan Nuclear Receptor; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D006801:Humans; D007006:Hypogonadism / Q000235:genetics; D007248:Infertility, Male / Q000235:genetics; D008297:Male; D018168:Receptors, Retinoic Acid / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics*
chemical_list: D057137:DAX-1 Orphan Nuclear Receptor; D004268:DNA-Binding Proteins; C539965:NR0B1 protein, human; D018168:Receptors, Retinoic Acid; D012097:Repressor Proteins