低促性腺激素性性腺功能减退-额顶脱发综合征

定义 英文原文（暂无中文）

A rare endocrine disease characterized by congenital hypogonadotropic hypogonadism and frontoparietal alopecia. Affected males also exhibit an absence of facial, axillary and pubic hair. Affected females present with more severe alopecia evident from early childhood, primary amenorrhea, absence of axillary and pubic hair, and lack of breast development. Except for failure of sexual development, all affected individuals had normal physical and intellectual development. There have been no further descriptions in the literature since 1979.

别名

Salti-Salem 综合征

基本事实

遗传方式

常染色体显性

发病年龄

儿童期

患病率

<1 / 1 000 000

外部标识与链接