睾丸发育不全
Testicular agenesis
ORPHA:325124疾病
定义 英文原文（暂无中文）
A rare 46,XY disorder of gonadal development characterized by congenital complete absence of testicular tissue in an individual with an otherwise normal male phenotype and normal karyotype. In addition, a small penis is a frequent finding in anorchid patients. Typical hormonal characteristics are elevated basal levels of gonadotropins (especially FSH), low concentration of testosterone, and lack of increase of plasma testosterone in response to hCG administration. The GnRH stimulation test induces a prolonged increase in FSH and LH levels.
别名
双侧无睾症
基本事实
- 发病年龄
- 新生儿期
- 患病率
- 1-9 / 100 000
临床表型 11
极常见 99–80%7
- 输精管形态异常 HP:0012872
- 外生殖器缺如 HP:0000042
- 睾丸缺如 HP:0010469
- 血清睾酮水平降低 HP:0040171
- 促性腺激素水平升高 HP:0000837
- 小阴茎 HP:0000054
- 睾丸消失 HP:0012870
常见 79–30%4
- 外阴性别不明 HP:0000062
- 子宫发育不良 HP:0000013
- 尿道阴道瘘 HP:0008716
- 泌尿生殖窦异常 HP:0100779
外部标识与链接
发现这一页有错误？告诉我 · 邮件主题会自动带上本页的 ORPHA 编号
本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 中文病名：Orphanet 中文包，冻结于 2020-06-01
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）