雄激素不敏感综合征
基因病名称(英)
Androgen insensitivity syndrome
关键字(英)
Pseudohermaphroditism
别名(英)
Androgen receptor deficiency,Androgen resistance syndrome,AR deficiency,CAIS,Complete androgen insensitivity syndrome,DHTR deficiency,Dihydrotestosterone receptor deficiency,Testicular feminization syndrome,TFM
别名
雄激素受体缺乏症，雄激素抵抗综合征，AR缺乏症，CAIS，完全雄激素不敏感综合征，DHTR缺乏症，二氢睾酮受体缺乏症，睾丸女性化综合征，TFM
统计
reviewed:1; annotated:0
交叉引用
300068,C0039585,D013734
描述(英)
An X-linked recessive form of pseudohermaphroditism due end-organ resistance to androgen. Affected males have female external genitalia, female breast development, blind vagina, absent uterus and female adnexa, and abdominal or inguinal testes, despite a normal 46,XY karyotype.
描述
由于终末器官对雄激素的抵抗，一种 X 连锁隐性假两性畸形。受影响的男性有女性外生殖器、女性乳房发育、阴道失明、子宫和女性附件缺失以及腹部或腹股沟睾丸，尽管 46,XY 核型正常。