21-羟化酶缺陷症对男性生育力的影响

Effects of 21-hydroxylase deficiency on male fertility

先天性肾上腺皮质增生症(congenital adrenal hyperplasia,CAH)是由于肾上腺皮质类固醇激素合成途径中特定酶缺乏,引起皮质类固醇激素合成障碍的一组常染色体隐性遗传病。21-羟化酶缺陷(21-hydroxylase deficiency,21-OHD)是CAH最常见的类型,该疾病可导致患者的生育力受损。目前的研究多集中于女性CAH患者的生育力问题,男性21-OHD患者生育力受损最常见的原因包括睾丸肾上腺残余瘤(testicular adrenal rest tumor,TART)、低促性腺激素分泌及糖皮质激素治疗不当等。本文对男性21-OHD患者生育力受损的原因及其治疗进行了综述,旨在为改善男性21-OHD患者生育力提供指导。

Congenital adrenal hyperplasia(CAH)is a group of autosomal recessive disorders caused by deficiency of specific enzymes in the adrenocortical hormone synthesis pathway,resulting in impaired corticosteroid synthesis.21-hydroxylase deficiency is the most common type of CAH,and the disorder can lead to impaired fertility in patients.Most current studies have focused on fertility problems in female CAH patients.The most common causes of impaired fertility in men with 21-OHD include testicular adrenal rest tumors(TART),low gonadotropin secretion,and inappropriate glucocorticoid therapy.This article reviews the causes of impaired fertility and its treatment in male patients with 21-OHD,with the aim of providing guidance for improving the fertility of male patients with 21-OHD.