Nimkarn Saroj, New Maria I
Department of Pediatrics, Mount Sinai School of Medicine, New York, NY 10029, USA.
Horm Res. 2007;67(2):53-60. doi: 10.1159/000096353. Epub 2006 Oct 17.
Congenital adrenal hyperplasia is a group of inherited disorders caused by an enzyme deficiency in steroid biosynthesis. The most common form of congenital adrenal hyperplasia is 21-hydroxylase deficiency, which in its severe form can cause genital ambiguity in females. Steroid 21-hydroxylase deficiency can be diagnosed in utero through molecular genetic analysis of fetal DNA. Prenatal treatment successfully reduces genital ambiguity, and the subsequent problems of sex misassignment and gender confusion. Data from current studies show that prenatal diagnosis and treatment are safe for the mother and the fetus. The evidence also suggests that it is safe over the long term, but all subjects exposed to dexamethasone treatment during embryonic and fetal life should have their physical, cognitive and emotional developments recorded.
先天性肾上腺皮质增生症是一组由类固醇生物合成中酶缺乏引起的遗传性疾病。先天性肾上腺皮质增生症最常见的形式是21-羟化酶缺乏症，其严重形式可导致女性生殖器模糊。通过对胎儿DNA进行分子遗传分析可在子宫内诊断出类固醇21-羟化酶缺乏症。产前治疗成功减少了生殖器模糊以及随后的性别错误分配和性别困惑问题。当前研究数据表明，产前诊断和治疗对母亲和胎儿都是安全的。证据还表明，从长期来看也是安全的，但所有在胚胎和胎儿期接受地塞米松治疗的受试者都应记录其身体、认知和情感发育情况。
