Nimkarn Saroj, New Maria I
Adrenal Steroids Disorders Program, Department of Pediatrics at Mount Sinai School of Medicine, New York, NY 10029, USA.
Nat Clin Pract Endocrinol Metab. 2007 May;3(5):405-13. doi: 10.1038/ncpendmet0481.
Classical forms of congenital adrenal hyperplasia are caused by a severe deficiency of 21-hydroxylase, an enzyme involved in steroid biosynthesis, which triggers excessive androgen production before birth. Affected females experience virilization both physically and psychologically. Prenatal diagnosis and treatment of congenital adrenal hyperplasia has been implemented for more than 20 years. In utero gene-specific diagnosis is now feasible for fetal cell samples derived from chorionic villi or amniotic cells in culture, and this gene-specific diagnosis guides the treatment of the affected female fetus. Appropriate dexamethasone administration to the at-risk pregnant mother is effective in reducing genital virilization in the fetus, and thus avoids unnecessary genitoplasty in affected females. Current data from large human studies show the benefit and safety of prenatal treatment. Long-term follow-up of the safety of prenatal treatment is currently underway. This practice is a rare example of effective prenatal treatment to prevent a malformation caused by an inborn error of metabolism.
经典型先天性肾上腺皮质增生症是由21-羟化酶严重缺乏引起的，该酶参与类固醇生物合成，在出生前引发雄激素过度产生。受影响的女性在生理和心理上都会出现男性化。先天性肾上腺皮质增生症的产前诊断和治疗已经实施了20多年。对于来自绒毛膜绒毛或培养的羊水细胞的胎儿细胞样本，子宫内基因特异性诊断现在是可行的，这种基因特异性诊断指导对受影响的女性胎儿的治疗。对有风险的孕妇给予适当的地塞米松可有效减少胎儿生殖器男性化，从而避免对受影响女性进行不必要的生殖器整形手术。来自大型人体研究的当前数据显示了产前治疗的益处和安全性。目前正在对产前治疗的安全性进行长期随访。这种做法是有效产前治疗以预防由先天性代谢缺陷引起的畸形的罕见例子。
