Migeon C J, Donohoue P A
Johns Hopkins University School of Medicine, Baltimore, Maryland.
Endocrinol Metab Clin North Am. 1991 Jun;20(2):277-96.
This article discusses congenital adrenal hyperplasia (CAH) caused by a deficiency of 21-hydroxylase, which represents 90% of all cases of CAH. As in other genetic disorders of metabolism, the symptoms of CAH are related to both the decrease of the final products of metabolism and the accumulation of precursors that are not normally secreted or that are secreted in only very small amounts. The biochemistry, pathophysiology, treatment, genetics, and long-term follow-up (including fertility and sexual orientation) of both the simple virilizing form and the salt-losing form of 21-hydroxylase deficiency are presented, as well as the possibility of prenatal treatment.
本文讨论了由21-羟化酶缺乏引起的先天性肾上腺皮质增生症（CAH），其占所有CAH病例的90%。与其他遗传性代谢紊乱一样，CAH的症状既与代谢终产物的减少有关，也与通常不分泌或仅少量分泌的前体物质的积累有关。本文介绍了21-羟化酶缺乏的单纯男性化型和失盐型的生物化学、病理生理学、治疗、遗传学及长期随访（包括生育能力和性取向），以及产前治疗的可能性。
