性别发育异常的评估、诊断和治疗研究进展

Progress on evaluation, diagnosis and management of disorders of sex development

性别发育异常(DSD)是指由于先天性的染色体、性腺或性别解剖结构发育出现异常,导致疾病谱广泛、有不同病理生理改变且临床表现各异的一组疾病,新生儿常表现为生殖器异常,而青少年则表现为青春发育期异常的性发育。随着对DSD的深入研究,国际上已形成共识,即DSD的基本临床评估(内外生殖器及内分泌激素)、诊断建立(包括染色体、基因诊断)、患儿及家庭的心理评估、治疗(包括性别分配、激素的替代及外科手术选择)、潜在的生育能力保护及长期的追踪随访等一系列工作已非小儿泌尿外科单一学科能承担,需要小儿内分泌科,小儿泌尿外科、临床心理科、遗传学科、影像学科及其他相关学科的共同参与。本文就近年来DSD的评估、诊断和治疗等方面的进展作一综述。

Disorders of sex development (DSD) refer to a group of diseases characterized by abnormal congenital development of chromosomes, gonad or genitals with different pathophysiological changes and clinical manifestations. DSD is more common in neonates and adolescents, and neonates often show genital abnormalities while adolescents show abnormal sexual development during puberty. It is the international consensus that the scope of DSD should include basic clinical evaluation (internal and external genitalia and endocrine hormones), diagnostic confirmation (chromosome, genetic diagnosis), psychological assessment for children and family, treatment (sex assignment, hormone replacement and surgical intervention), potential fertility protection and long-term follow-up, which require the expertise of pediatric endocrinology, pediatric urology, clinical psychology, genetic disciplines, medical images and other related disciplines;that is, individualized management of children with DSD requires an experienced multidisciplinary team (MDT). This article reviews the recent progress on the evaluation, diagnosis and management of disorders of sex development.