XYY综合征患儿的认知

Promoting awareness of children with XYY syndrome

XYY综合征又被称为超雄综合征,是位居克氏综合征之后常见的男性性染色体疾病。XYY综合征的临床表型差异大。既往XYY综合征检出率较低,但是随着产前诊断技术的发展及妊娠夫妇对胎儿重视程度的增加,产前诊断为胎儿合并XYY综合征的病例增多。目前,宫内诊断胎儿合并XYY综合征后,需要多学科团队专家评估胎儿预后,对妊娠夫妇提供详细、无偏倚的临床咨询。XYY综合征患儿出生后,仍然需要多学科团队专家协作,对部分XYY综合征患儿发生的行为认知问题,进行康复训练及临床干预。对发现XYY综合征患者的育龄期夫妇,需要采取辅助生殖技术,提高其妊娠率及避免不良妊娠结局发生。笔者拟从XYY综合征患儿的遗传学背景、诊断、胎儿围生结局及出生后生存情况、临床表型、胎儿情况评估及处理等方面的最新研究进展进行阐述,旨在为可能孕育XYY综合征患儿的育龄期夫妇提供临床咨询参考。

XYY syndrome,also named as super male syndrome,is the most common Y chromosome abnormality disease behind Klinefelter syndrome.The clinical phenotypes of XYY syndrome are quite different.The detection rate of XYY syndrome was low in the past,but with the development of prenatal diagnosis technics and the increasing attention paid by couples to the fetuses,the rate of prenatal diagnosis of fetal XYY syndrome is increasing.Currently,after the intrauterine diagnosis of fetal XYY syndrome,a multidisciplinary team is required to evaluate the prognosis of the fetus,and provide detailed and unbiased clinical consultations to the pregnant couples.After the birth of children with XYY syndrome,multidisciplinary team is still needed to carry out rehabilitation intervention and training for some children with XYY syndrome who have behavioral and cognitive problems.Assisted reproductive technology is needed to improve the pregnancy rate of patients with XYY syndrome and avoid adverse pregnancy outcomes.This article focuses on the latest research progresses in genetic background,diagnosis,fetal perinatal outcomes and postnatal survival,clinical phenotypes,evaluation and treatment of children with XYY syndrome,so as to provide clinical reference for childbearing couples who may be pregnant with children with XYY syndrome.