46, XX性发育相关睾丸疾病
46,XX testicular difference of sex development
ORPHA:393疾病
定义 英文原文（暂无中文）
A rare difference of sex development (DSD) associated with a 46, XX karyotype and characterized by male external genitalia, ranging from normal to atypical with associated testosterone deficiency.
别名
De la Chapelle综合征
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 青少年期、产前、新生儿期
- 患病率
- 1-9 / 100 000
相关基因 5
| 基因 | 名称 | 关联类型 |
|---|---|---|
| SOX9 | SRY-box transcription factor 9 | Disease-causing germline mutation(s) in |
| SRY | sex determining region Y | Disease-causing germline mutation(s) in |
| NR0B1 | nuclear receptor subfamily 0 group B member 1 | Role in the phenotype of |
| SOX3 | SRY-box transcription factor 3 | Disease-causing germline mutation(s) (gain of function) in |
| NR5A1 | nuclear receptor subfamily 5 group A member 1 | Disease-causing germline mutation(s) (loss of function) in |
临床表型 4
极常见 99–80%4
- 外阴性别不明 HP:0000062
- 睾丸体积过小 HP:0008734
- 男性性腺功能减退症 HP:0000026
- 多囊卵巢 HP:0000147
外部标识与链接
OrphanetOMIM:278850OMIM:300833OMIM:400045MONDO:0100249GARD:399ICD-10 Q99.1ICD-11 LD2A.YClinicalTrials.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）