摘要
雄激素不敏感综合征(androgen insensitivity syndrome,AIS)是一种先天性生殖器发育畸形的特殊疾病,由染色体Xq11-12上的雄激素受体发生功能异常导致。近年来对雄激素受体新突变报道中显示,同一位点突变可导致不同的疾病表型,除去外显子突变外,内含子剪切位点突变对受体功能亦可产生影响。治疗上,性腺切除时机存在争议,对于希望保留性腺的患者,建议进行定期筛查。由于样本案例少及其特殊临床表现与治疗方式,本疾病需要引起人们的关注。本文从发病机制、临床表现、治疗及预后几个方面对此疾病进行总结,促进对AIS的诊疗。
Androgen insensitivity syndrome(AIS)is a special disease of congenital malformations of genital development.It is caused by the abnormal function of the androgen receptor on chromosome Xq11-12.In recent years,reports of new mutations in the androgen receptor have found that mutations at the same site can lead to different disease phenotypes.In addition to exon mutations,mutations at intron splicing sites can also affect receptor function.In terms of treatment,the timing of gonadal resection is controversial.For patients who wish to preserve their gonads,regular screening is recommended.Due to the small number of sample cases and its special clinical manifestations and treatment methods,this disease needs to arouse people's attention.This article summarizes the disease from several aspects of pathogenesis,clinical manifestations,treatment and prognosis,and promotes the diagnosis and treatment of AIS.
作者
周丹
孙晓溪
Zhou Dan;Sun Xiaoxi(Obstetrics and Gynecology Hospital,Fudan University,Shanghai 200011,China)
出处
《中华生殖与避孕杂志》
CAS
CSCD
北大核心
2022年第7期757-762,共6页
Chinese Journal of Reproduction and Contraception
关键词
雄激素不敏感综合征
性发育障碍
雄激素受体
基因突变
Androgen insensitivity syndrome
Disorder of sex development
Androgen receptor
Gene mutation
