雄激素不敏感综合征(AIS)是一类主要与雄激素受体(AR)基因突变密切相关的X-连锁隐性遗传病,是男性假两性畸形中常见的类型。患者的染色体核型为46,XY,其发病的关键在于与男性化有关的雄激素靶器官受体缺陷,导致靶组织对雄激素不敏感,从而使雄激素的正常生物学效应全部或部分丧 Androgen-insensitive syndrome (AIS) is a type of X-linked recessive disorder that is mainly associated with mutations in the androgen receptor (AR) gene and is a common type of male pseudohermaphroditism. Patients with chromosome karyotype 46, XY, the key to its pathogenesis is associated with masculine androgen receptor defects, resulting in the target tissue is not androgen-sensitive, so that the normal biological effects of androgen in whole or in part funeral