Verrijn Stuart A A, de Vroede M A M J, Giltay J C
Divisie Kindergeneeskunde, Universitair Medisch Centrum Utrecht, Wilhelmina Kinderziekenhuis, Huispost KC 03.063.0, Postbus 85.090, 3508 AB Utrecht.
Ned Tijdschr Geneeskd. 2005 May 21;149(21):1156-8.
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.
先天性肾上腺发育不全是一种X连锁疾病，会导致肾上腺皮质功能不全、因促性腺激素缺乏性性腺功能减退而无法完成青春期发育以及不育。该疾病由DAX - 1基因突变引起。DAX - 1蛋白是一种转录抑制剂；它会抑制其他目前大多未知的基因的转录。突变分析可以确诊先天性肾上腺发育不全的临床诊断。早期诊断可能会预防未确诊患者因肾上腺危象而造成的严重损害。分子检测可用于携带者检测和遗传咨询。
