Pseudovaginal Perineoscrotal Hypospadias (PPSH)

假阴道会阴阴囊尿道下裂(来自ICD-11)

别称:

Micropenis

Ppsh

46,xy Disorder of Sex Development Due to 5-Alpha-Reductase 2 Deficiency

Male Pseudohermaphroditism Due to 5-Alpha-Reductase Deficiency

46,xy Dsd Due to 5-Alpha-Reductase 2 Deficiency

Steroid 5-Alpha-Reductase 2 Deficiency

5-Alpha Reductase Deficiency

Microphallus

46,xy Difference of Sex Development Due to 5-Alpha-Reductase 2 Deficiency

Familial Incomplete Male Pseudohermaphroditism, Type 2

3-Oxo-5 Alpha-Steroid Delta 4-Dehydrogenase Deficiency

Familial Incomplete Male Pseudohermaphroditism Type 2

Hypospadias, Perineoscrotal, Pseudovaginal

Steroid 5-Alpha-Reductase Deficiency

5-Ard Deficiency

Mcrpens

加入收藏

基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

假阴道会阴阴囊尿道下裂，也被称为小阴茎，与莱迪克细胞发育不良和莱迪克细胞发育不良型II有关。与假阴道会阴阴囊尿道下裂相关的基因是SRD5A2（类固醇5α还原酶2），其相关通路/超级通路包括类固醇代谢和转录雄激素受体核信号通路。在该疾病的背景下，已经提到了透明质酸和免疫因素。相关组织包括睾丸和皮肤，相关表型包括隐睾和生育力下降。

查看原文参与反馈