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Updated: Jun 18, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

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晚期诊断部分3β-hydroxysteroid脱酶2型缺乏症 - 一种新的遗传变异的特征

Cagla Margit Øzdemir1, Mette Mølby Nielsen2, Jani Liimatta3,4,5

  • 1Department of Endocrinology, Aarhus University Hospital, Aarhus N, Denmark.

Endocrinology, diabetes & metabolism case reports
|August 1, 2024
PubMed
概括

由于3β-hydroxysteroid脱酶2型 (3βHSD2) 缺陷导致的非经典先天性上腺增生症 (CAH) 的延迟诊断发生在两个兄弟姐妹身上. 早期全面的类固醇分析和基因检测对于诊断罕见的CAH形式和预防并发症至关重要.

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