性发育异常儿童抚养性别再认识

Towards a further understanding of gender of rearing in children with disorders of sexual development

出生时外阴性别不明是性发育异常（DSD）患儿最常见的临床表现之一，如何确认DSD患儿的最佳抚养性别，对临床医师和患者家庭都是一个巨大的挑战。曾经一度把外生殖的表型及手术矫形的难易作为决定抚养性别的关键；后来性腺组织病理被当作确定抚养性别的主要依据；再后来性染色体及相关基因逐渐在抚养性别确定中居于重要地位。近年来研究发现，胚胎期受激素及性别相关基因表达的影响，大脑性别的分化要远早于性腺分化，大脑性别差异对后续社会心理性别的影响逐渐受到重视。近10年来，随着分子基因诊断及腔镜技术的发展，DSD患儿性别选择观念也在不断更新，现就DSD患儿抚养性别确定中的一些新观点及争议问题进行简要评述，重点强调多学科团队合作在性别选择中的作用。

The birth of an infant with ambiguous genitalia is one of the common clinical manifestations of disorders of sex development（DSD）, and dealing with the sex of rearing is an embarrassment for their parents as well as primary care physician.At one time, the ability to surgically create sexually functional genitalia was thought as a dominant factor in decision-making, later gonadal histology （testicular or ovarian） was thought to indicate the true sex/gender, subsequently, sex chromosomes and genomic features became a major factor in identifying the true sex/gender.Now research in molecular biology has revealed the brain is another most important sexual organ playing a crucial role in social psychological gender determination.In recent decade, since the genetic diagnosis and endoscopic surgery technology dramatically develop, the approach to sex of rearing decisions in patients with DSD has changed fundamentally.Now, the current understanding and controversies on gender assignment in DSD individuals are reviewed, and the multidisciplinary approach to gender assignment and care of these patients and their family are highlighted.