先天性肾上腺皮质增生症致46,XX性发育异常患儿性别选择影响因素研究进展

Research progress on influencing factors of sex selection in children with 46,XX sexual dysplasia caused by congenital adrenocortical hyperplasia

先天性肾上腺皮质增生症(CAH)致46,XX男性化为性发育异常(DSD)最常见的类型,患儿具有卵巢和苗勒氏管衍生物(子宫、输卵管、阴道上1/3段),外生殖器表现为不同程度的男性化。目前CAH致46,XX DSD的性别分配指南仍推荐为女性,这对于CAH致46,XX DSD有严重男性化生殖器(Prader IV或Prader V)的患儿是最具挑战性的,因此,性别选择是决定CAH致46,XX男性化患儿最终治疗效果的最关键一环。性别选择时应考虑生殖器男性化畸形程度,治疗方法的选择及效果,性功能和生育潜力,心理发育评估以及社会文化,家庭观念,生活风俗等影响因素,需要多学科团队(MDT)支持下,应结合家属和(或)患儿本人意见,作出合理的性别分配,在此基础上,本文对CAH致46,XX男性化患儿性别选择影响因素以及主要进展进行了综述。

Congenital adrenal hyperplasia(CAH)leads to 46,XX masculinization,the most common type of male sex development disorder(DSD),the child had ovaries and Mullerian tube derivatives(uterus,fallopian tubes,upper one-third of the vagina),and the external genitalia showed varying degrees of masculinity.The current sex assignment guidelines for CAH caused 46,XX DSD still recommend females,which is most challenging for children with CAH caused 46,XX DSD with severely masculine genitalia(Prader IV or Prader V).Therefore,sex selection determines CAH caused 46,XX masculine children the final treatment effect of the most critical link.During sex selection,the degree of genital malformation,the selection and effect of treatment methods,sexual function and reproductive potential,evaluation of psychological development,social culture,family concept,living customs and other influencing factors should be considered.It needs the support of multidisciplinary team(MDT).The opinions of family members and/or the children themselves should be combined to make a reasonable gender allocation.On this basis,this paper summarized the influencing factors of sex selection and the main progress of CAH caused 46,XX children with masculinity.