Advances in the diagnosis and hormone replacement treatment of 46, XY disorders of sex development]

Disorders of sex development (DSD) is defined as a congenital condition or atypical development of the chromosomal, gonadal, or anatomic sex. The diagnosis, gender assignment, and treatment of DSD require the guidance from experienced multidisciplinary teams. So far there has been no consensus about it in China. Due to dysgenetic gonads, defects in sex steroid biosynthesis or action, or gonadectomy during the prepubertal years, those with DSD suffer from hypogonadism. The hormone replacement therapy of DSD aims at general physiological health and long-term prognosis as well as the avoidance of unnecessary genital and gonadal surgery. This review focuses on the advances in the studies of the diagnosis and hormone replacement therapy of 46,XY DSD.性发育异常（DSD）是指先天性的染色体、性腺和解剖性别不典型。DSD的明确诊断、性别分配和治疗，须在有经验的多学科团队（MDT）指导下进行。目前我国对此病尚无统一的诊治指南。过去DSD的治疗只注重男女生殖器外观的要求，由于性腺发育不良、生殖激素合成或作用缺陷、或性腺被切除，导致DSD患者性腺功能低下，现今激素替代治疗不仅提高性生理健康及长期预后，有时还可以避免不必要的生殖器和性腺的手术。本文将对46,XY DSD诊断及激素替代治疗的研究进展进行综述。.