己烯雌酚综合征
Diethylstilbestrol syndrome
ORPHA:1916疾病
定义 英文原文（暂无中文）
A malformation syndrome reported in offspring (children and grandchildren) of women exposed to diethylstilbestrol (DES) during pregnancy and is characterized by reproductive tract malformations, decreased fertility and increased risk of developing clear cell carcinoma of the vagina and cervix in young women. Reproductive malformations reported in DES syndrome include small, T-shaped uteri and other uterotubal anomalies that increase the risk of miscarriages in women and epididymal cysts, microphallus, cryptorchidism, or testicular hypoplasia in men. DES, a synthetic nonsteroidal estrogen was widely prescribed from 1940-1970 to prevent miscarriage.
别名
己烯雌酚胎儿胚胎病
基本事实
- 遗传方式
- 不适用
- 发病年龄
- 各年龄段
临床表型 18
极常见 99–80%15
- 生殖系统形态异常 HP:0012243
- 睾丸形态异常 HP:0000035
- 子宫异常 HP:0000130
- 乳腺癌 HP:0003002
- 隐睾 HP:0000028
- 女性生育能力降低 HP:0000868
- 附睾囊肿 HP:0030424
- 子宫发育不良 HP:0000013
- 小阴茎 HP:0000054
- 先兆子痫 HP:0100602
- 早产 HP:0001622
- 早发性卵巢功能不全 HP:0008209
- 小于胎龄儿 HP:0001518
- 睾丸发育不全 HP:0008715
- 阴道肿瘤 HP:0100650
常见 79–30%1
- 尿道下裂 HP:0000047
偶见 29–5%2
- 中枢性呼吸暂停 HP:0002871
- 黑色素瘤 HP:0002861
外部标识与链接
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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）