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由突变的P450氧化降解酶和人类雄激素合成引起的先天性上腺增生:分析性研究
Wiebke Arlt1, Elizabeth A Walker, Nicole Draper
1Division of Medical Sciences, Institute of Biomedical Research, Medical School, Birmingham B15 2TT, UK. w.arlt@bham.ac.uk
Lancet (London, England)
|June 29, 2004
概括
在P450氧化降解酶基因的突变导致一种罕见的先天性上腺增生症,导致模两可的生殖器和荷尔蒙失衡. 这一发现揭示了胎儿雄激素合成的新途径.
科学领域:
- 内分泌学 在内分泌学.
- 遗传学 是一个遗传学.
- 生物化学 生物化学
背景情况:
- 带有明显的P450C17和P450C21缺乏症的先天性上腺增生症 (CAH) 与类固醇代谢物积累在一起,表明17alpha-hydroxylase和21-hydroxylase活性受损.
- 尽管有临床症状,但CYP17和CYP21基因的突变在受影响的个体中没有发现,使分子基础不明.
- 受影响的女性表现出模两可的生殖器,低循环的雄激素,以及缺乏渐进的男性化.
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