由于3β-Hydroxysteroid脱酶2型缺乏症导致的先天性上腺增生症的延迟诊断
Saira Yousaf1, Ryizan Nizar1,2, George Alias1
1Department of Diabetes and Endocrinology, Great Western Hospital NHS Foundation Trust, Swindon SN3 6BB, UK.
JCEM case reports
|October 13, 2025
概括
先天性上腺增生症 (CAH) 可能是由罕见的缺陷引起的,如3β-基类固醇脱酶2型 (3β-HSD2). 这一案例表明,考虑较罕见的CAH形式对于准确的诊断和治疗的重要性.
科学领域:
- 内分泌学 在内分泌学.
- 遗传学 遗传学 是一个
- 代谢障碍 代谢障碍 代谢障碍
背景情况:
- 先天性上腺增生症 (CAH) 是一种影响上腺类固醇合成的自身遗传性衰退性疾病.
- 21-基酶缺乏症 (21-OHD) 是最常见的形式 (>95%),而3β-基类固醇脱酶2型 (3β-HSD2) 缺乏症很少见 (<0.5%).
- 准确诊断CAH亚型对于适当的管理至关重要.
研究的目的:
- 报告一个46岁的女性被误诊患有21-OHD CAH,后来被发现患有3β-HSD2缺乏症的病例.
- 为了强调对较罕见的CAH形式的临床怀疑的必要性.
- 突出潜在的诊断挑战和治疗影响.
主要方法:
- 一个成年女性的临床病例呈现,患有持续的高雄性质症.
- 生物化学测试包括17-基孕水平和24小时尿路类固醇概况.
- 基因检测以证实诊断的确诊.
主要成果:
- 这位患者最初被诊断为21-OHD CAH,尽管接受了标准治疗,但呈现出高雄性质症.
- 意想不到的低17-基孕水平促使进一步调查.
- 3β-HSD2缺乏症的诊断通过尿路类固醇分析和遗传检测得到证实.
结论:
- 较罕见的CAH形式,如3β-HSD2缺乏症,可能会被忽视,导致诊断延迟.
- 临床怀疑对于识别CAH的非典型表现至关重要.
- 如果特定的CAH亚型未被正确识别,可能会出现不充分的葡萄皮质激素替代.
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