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
PubMed
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.

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