Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, University of Kansas, KU Medical Center Office, Kansas City, Kansas.
Division of Metabolism, Endocrinology, and Diabetes, Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan.
Fertil Steril. 2014 Feb;101(2):317-22. doi: 10.1016/j.fertnstert.2013.11.011.
CYP17A1 catalyzes the 17-hydroxylase and 17,20-lyase reactions, regulating the steroid hormones produced by the adrenal glands and gonads. Mutations that compromise all CYP17A1 activities are extremely rare and cause combined 17-hydroxylase/17,20-lyase deficiency. Clinically, combined 17-hydroxylase/17,20-lyase deficiency presents with hypertension, hypokalemia, primary amenorrhea, and sexual infantilism. A few mutations selectively impair 17,20-lyase activity, and some mutations in cofactor proteins cytochrome P450-oxidoreductase and cytochrome b5 also selectively disrupt 17,20-lyase activity. The defect in sex steroid synthesis impairs fertility in both male and female patients when the deficiency is severe. This paper reviews the genetics, steroidogenesis, and fertility impairments associated with these disorders.
CYP17A1 催化 17-羟化酶和 17,20-裂合酶反应，调节肾上腺和性腺产生的类固醇激素。完全丧失 CYP17A1 活性的突变极其罕见，会导致 17-羟化酶/17,20-裂合酶缺陷症。临床上，17-羟化酶/17,20-裂合酶缺陷症表现为高血压、低钾血症、原发性闭经和性幼稚症。少数突变选择性地损害 17,20-裂合酶活性，而细胞色素 P450-氧化还原酶和细胞色素 b5 中的一些突变也选择性地破坏 17,20-裂合酶活性。当缺陷严重时，性激素合成的缺陷会损害男性和女性患者的生育能力。本文综述了与这些疾病相关的遗传学、类固醇生成和生育障碍。
