46,XX性腺发育不全
46,XX gonadal dysgenesis
ORPHA:243疾病
定义 英文原文（暂无中文）
A rare disorder/difference of sex development characterized by a primary ovarian defect, either a failure of the gonads to develop or resistance to gonadotrophin stimulation which leads to premature ovarian failure (POF) in otherwise phenotypically female 46,XX individuals.
别名
卵泡刺激素不敏感性卵巢
基本事实
- 遗传方式
- 常染色体显性、常染色体隐性、不适用、X 连锁隐性
- 发病年龄
- 青少年期、成年期
相关基因 12
| 基因 | 名称 | 关联类型 |
|---|---|---|
| PSMC3IP | PSMC3 interacting protein | Disease-causing germline mutation(s) in |
| NUP107 | nucleoporin 107 | Disease-causing germline mutation(s) in |
| SPIDR | scaffold protein involved in DNA repair | Disease-causing germline mutation(s) (loss of function) in |
| MSH4 | mutS homolog 4 | Disease-causing germline mutation(s) in |
| POLR3H | RNA polymerase III subunit H | Disease-causing germline mutation(s) (loss of function) in |
| BNC1 | basonuclin zinc finger protein 1 | Disease-causing germline mutation(s) in |
| ZSWIM7 | zinc finger SWIM-type containing 7 | Disease-causing germline mutation(s) in |
| FIGLA | folliculogenesis specific bHLH transcription factor | Disease-causing germline mutation(s) in |
| FSHR | follicle stimulating hormone receptor | Disease-causing germline mutation(s) (loss of function) in |
| MRPS22 | mitochondrial ribosomal protein S22 | Disease-causing germline mutation(s) in |
| BMP15 | bone morphogenetic protein 15 | Disease-causing germline mutation(s) in |
| NR5A1 | nuclear receptor subfamily 5 group A member 1 | Disease-causing germline mutation(s) in |
临床表型 25
必现 100%2
- 性腺发育不全 HP:0000133
- 早发性卵巢功能不全 HP:0008209
极常见 99–80%6
- 第二性征毛发异常 HP:0009888
- 生育能力下降 HP:0000144
- 血清雌二醇水平降低 HP:0008214
- 青春期发育延迟 HP:0000823
- 促性腺激素水平升高 HP:0000837
- 原发性闭经 HP:0000786
常见 79–30%8
- 乳房发育不全/不良 HP:0010311
- 子宫发育不全/发育不良 HP:0008684
- 骨成熟延迟 HP:0002750
- 骨质减少 HP:0000938
- 椎骨骨质疏松症 HP:0005625
- 骨密度降低 HP:0004349
- 阴毛稀疏 HP:0002225
- 条索状卵巢 HP:0010464
偶见 29–5%4
- 代谢紊乱/稳态失衡 HP:0001939
- 听力受损 HP:0000365
- 继发性闭经 HP:0000869
- 身材矮小 HP:0004322
罕见 <4–1%4
- 细长指(趾) HP:0001166
- 共济失调 HP:0001251
- 小头畸形 HP:0000252
- 肺纤维化 HP:0002206
排除 0%1
- 外阴性别不明 HP:0000062
外部标识与链接
OrphanetOMIM:233300OMIM:300510OMIM:614324MONDO:0009299GARD:5671ICD-10 Q99.1ICD-11 LB45.1ClinicalTrials.gov 检索
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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）