| 摘要: |
| 类固醇5α-还原酶2(5α-R2)负责将睾酮还原为活性更强的双氢睾酮(dihydrotestosterone,DHT),在男性外生殖器及前列腺的发育中有关键性意义。5α-R2 缺乏会引起外生殖器男性化不足,包括小阴茎、尿道下裂等。类固醇5α-还原酶2 缺乏症(5α-reductase type 2 deficiency,5α-RD2)是由2 号染色SRD5A2 基因异常突变引起的代谢性缺陷病,患者临床表现异质性强,基因检测有助于早期诊断及治疗优化。虽然不同国家和不同种族的病例报道越来越多,但目前对5α-RD2 认识仍然有限。本文将对5α-RD2 的发病机制、临床表现、诊疗、研究热点进行综述。 |
| 关键词: |
| DOI：10.13407/j.cnki.jpp.1672-108X.2023.05.015 |
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| 基金项目: |
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| Research Progress of Steroid 5α-Reductase 2 Deficiency |
| Nie Yingling, Zhu Min |
| (Children’s Hospital of Chongqing Medical University, National Clinical Research Center for Child Health
and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Pediatrics,
Chongqing 400014, China) |
| Abstract: |
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