疾病条目id

DI-00134

基因病名称(英)

Aromatase deficiency

基因病名称

芳香酶缺乏症

关键字(英)

Pseudohermaphroditism

关键字

假两性畸形

别名(英)

Pseudohermaphroditism female due to placental aromatase deficiency

别名

由于胎盘芳香酶缺乏导致的假两性畸形女性

统计

reviewed:1; annotated:0

交叉引用

613546,C0878680,D008661,D058489

助记符

AROD

描述(英)

A rare disease in which fetal androgens are not converted into estrogens due to placental aromatase deficiency. Thus, pregnant women exhibit a hirsutism, which spontaneously resolves after post-partum. At birth, female babies present with pseudohermaphroditism due to virilization of extern genital organs. In adult females, manifestations include delay of puberty, breast hypoplasia and primary amenorrhoea with multicystic ovaries.

描述

一种由于胎盘芳香酶缺乏导致胎儿雄激素不能转化为雌激素的罕见疾病。因此，孕妇表现出多毛症，产后会自然消退。出生时，女婴因外生殖器男性化而出现假两性畸形。在成年女性中，表现包括青春期延迟、乳房发育不全和原发性闭经伴多囊卵巢。