Zhonghua er ke za zhi = Chinese journal of pediatrics
Expert consensus for the management of 5α-reductase deficiency (2024)
Abstract
5α-还原酶缺乏症（5α-RD）是46，XY性发育异常的常见病因之一，为常染色体隐性遗传病，临床表型谱广泛，从外生殖器完全女性化到基本正常男性外观，典型内分泌激素改变为睾酮/双氢睾酮升高。临床管理的核心在于早期精准诊断和抚养性别判定。临床诊疗中面临的争议多，国内外尚无针对此病的管理共识或指南。为规范5α-RD的临床管理，尽量减少不当诊疗，经多个学组多学科专家共同讨论，并参考国内外的最新研究进展，达成了5α-还原酶-缺乏症临床管理专家共识以供临床医师在实践中参考使用。.
Source and rights
Published by Zhonghua er ke za zhi = Chinese journal of pediatrics, 2024. The guideline itself is at the source linked here.
Prognia summarises this guideline for reference and education. It is not medical advice. Always check the official guideline and current local protocols before acting on it.
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