超越二进制:在11β-基酶缺乏的情况下进行性别重新分配
Mohammed Afsharhussain Hithayathulla1, Hrithik Dakssesh Putta Nagarajan1, Vrijesh Gopalakrishnan1
1Department of Internal Medicine, Madurai Medical College, Madurai, IND.
Cureus
|December 13, 2023
概括
先天性上腺增生 (CAH) 是一组影响激素产生的遗传疾病. 这一案例突显了XX个体的11β-基酶缺陷 (11βOHD),强调了及时诊断和管理的必要性.
科学领域:
- 内分泌学 在内分泌学.
- 遗传学 遗传学 是一个
- 儿科医学 儿科医学
背景情况:
- 先天性上腺增生症 (CAH) 包括上腺激素生物合成的遗传性疾病,主要影响皮质醇的产生.
- 这些疾病的特点是酶缺乏,导致根据特定的酶和严重程度的不同临床表现.
- 自体逆向遗传是大多数CAH形式的典型特征.
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