雄激素不敏感，部分
基因病名称(英)
Androgen insensitivity, partial
关键字(英)
Pseudohermaphroditism
别名(英)
Androgen insensitivity partial with or without breast cancer,Familial incomplete male pseudohermaphroditism, type 1,Reifenstein syndrome
别名
雄激素不敏感部分伴或不伴乳腺癌，家族性不完全性男性假两性畸形，1型，Reifenstein综合征
统计
reviewed:1; annotated:0
交叉引用
312300,C0268301,D013734
描述(英)
A disorder that is characterized by hypospadias, hypogonadism, gynecomastia, genital ambiguity, normal XY karyotype, and a pedigree pattern consistent with X-linked recessive inheritance. Some patients present azoospermia or severe oligospermia without other clinical manifestations.
描述
一种以尿道下裂、性腺机能减退、男性乳房发育、生殖器畸形、正常 XY 核型和符合 X 连锁隐性遗传的谱系模式为特征的疾病。部分患者出现无精子症或严重少精子症而无其他临床表现。