两个女孩患有上腺功能衰竭和失败的生殖腺
Sarah Wing-Yiu Poon1, Raymond Hang-Wun Li2, Joanna Yuet-Ling Tung3
1Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong, China.
JCEM case reports
|November 1, 2023
概括
先天性脂质上腺增生 (CLAH) 可能在新生儿中呈现异常. 早期诊断至关重要,即使患者在青春期发展出高激素性阴性腺症.
科学领域:
- 内分泌学 在内分泌学.
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
背景情况:
- 先天性脂质上腺增生症 (CLAH) 是一种罕见的遗传性疾病.
- 它是由类固醇性急性调节 (StAR) 基因的突变引起的.
- 在婴儿中,CLAH通常会导致上腺功能衰竭和女性外部生殖器.
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