先天性巨细胞性肾上腺发育不全
X-linked adrenal hypoplasia congenita
定义 英文原文（暂无中文）
A rare genetic adrenal disease characterized by primary adrenal insufficiency (AI) and/or hypogonadotropic hypogonadism (HH). Male patients typically present with AI with acute onset in infancy or insidious onset in childhood. Clinical features of AI include hyperpigmentation, vomiting, poor feeding, failure to thrive, seizures, vascular collapse, and sometimes sudden death. HH manifests later as delayed or arrested puberty. In rare cases, patients become symptomatic in early adulthood with delayed-onset AI, partial HH, and/or infertility. Histologically, the adrenal glands lack the permanent adult cortical zone. The remaining cells are larger than fetal adrenal cells (''cytomegalic'') and contain characteristic nuclear inclusions.
别名
X染色体连锁遗传先天性肾上腺发育不全
基本事实
- 遗传方式
- X 连锁隐性
- 发病年龄
- 儿童期、婴儿期
- 患病率
- 1-9 / 100 000
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| NR0B1 | nuclear receptor subfamily 0 group B member 1 | Disease-causing germline mutation(s) (loss of function) in |
临床表型 24
必现 100%1
- 血促肾上腺皮质激素（ACTH）水平升高 HP:0003154
极常见 99–80%2
- 血皮质醇水平降低 HP:0008163
- 皮肤色素沉着 HP:0000953
常见 79–30%18
- 肾上腺皮质巨细胞症 HP:0008186
- 循环黄体生成素水平降低 HP:0030344
- 性欲减退 HP:0046504
- 血清睾酮水平降低 HP:0040171
- 睾丸体积过小 HP:0008734
- 青春期发育延迟 HP:0000823
- 腹泻 HP:0002014
- 勃起功能障碍 HP:0100639
- 婴儿期生长障碍 HP:0001531
- 疲乏 HP:0012378
- 高钾血症 HP:0002153
- 低促性腺激素性性腺功能减退症 HP:0000044
- 低钠血症 HP:0002902
- 恶心 HP:0002018
- 少精症 HP:0000798
- 原发性肾上腺功能不全 HP:0008207
- 眩晕 HP:0002321
- 呕吐 HP:0002013
偶见 29–5%3
- 癫痫发作 HP:0001250
- 阴毛稀疏 HP:0002225
- 体重减轻 HP:0001824
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）