The Ronald O. Perelman and Claudia Cohen Center for Reproductive Medicine, Weill Cornell Medical Center, New York, New York.
Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas.
Fertil Steril. 2014 Feb;101(2):301-9. doi: 10.1016/j.fertnstert.2013.11.002. Epub 2013 Dec 17.
Congenital adrenal hyperplasia (CAH) is the most frequently encountered genetic steroid disorder affecting fertility. Steroid hormones play a crucial role in sexual development and reproductive function; patients with either 21- hydroxylase or 11β-hydroxylase deficiency thus face immense challenges to their fertility. Given the relevance of CAH in reproductive medicine as well as the diagnostic challenges posed by the phenotypic overlap with polycystic ovary syndrome, we review the reproductive pahophysiology of both classic and nonclassic CAH and present contemporary treatment options.
先天性肾上腺皮质增生症(CAH)是最常见的影响生育力的遗传性类固醇疾病。类固醇激素在性发育和生殖功能中发挥着关键作用;因此,21-羟化酶或 11β-羟化酶缺乏的患者在生育力方面面临着巨大的挑战。鉴于 CAH 在生殖医学中的相关性,以及与多囊卵巢综合征表型重叠所带来的诊断挑战,我们回顾了经典和非经典 CAH 的生殖病理生理学,并提出了当代的治疗选择。