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中华医学超声杂志(电子版) ›› 2021, Vol. 18 ›› Issue (12) : 1218 -1220. doi: 10.3877/cma.j.issn.1672-6448.2021.12.017

病例报告

5α-还原酶2型缺乏症的遗传学分析及产前超声表现一例
王英1, 姚妍怡2,(), 杨小红1, 岳敏3   
  1. 1. 430070 武汉,湖北省妇幼保健院超声科
    2. 430070 武汉,湖北省妇幼保健院优生遗传中心
    3. 435400 湖北省武穴市第一人民医院超声科
  • 收稿日期:2021-07-06 出版日期:2021-12-01
  • 通信作者: 姚妍怡

Genetic analysis and prenatal ultrasound manifestations of 5α-reductase type 2 deficiency: a case report

Ying Wang1, Yanyi Yao2(), Xiaohong Yang1   

  • Received:2021-07-06 Published:2021-12-01
  • Corresponding author: Yanyi Yao
引用本文:

王英, 姚妍怡, 杨小红, 岳敏. 5α-还原酶2型缺乏症的遗传学分析及产前超声表现一例[J]. 中华医学超声杂志(电子版), 2021, 18(12): 1218-1220.

Ying Wang, Yanyi Yao, Xiaohong Yang. Genetic analysis and prenatal ultrasound manifestations of 5α-reductase type 2 deficiency: a case report[J]. Chinese Journal of Medical Ultrasound (Electronic Edition), 2021, 18(12): 1218-1220.

图1 5α-还原酶2型缺乏症胎儿及其父母的sanger测序验证图。图a为胎儿SRD5A2基因c.607G>A(p.G203S)杂合突变,父亲在该位点为野生型,母亲SRD5A2基因c.607G>A(p.G203S)杂合突变;图b为胎儿SRD5A2基因c.737G>A(p.R246Q)杂合突变,父亲SRD5A2基因c.737G>A(p.R246Q)杂合突变,母亲在该位点为野生型
图2 孕27+6周胎儿外生殖器二维及三维超声图像。图a为二维超声显示阴茎短小、背曲(测量所指为阴茎);图b为二维超声显示阴囊内无睾丸,阴茎短小、背曲,呈“郁金香”征;图c为三维超声显示外生殖器阴茎短小、背曲,符合尿道下裂表现
图3 5α-还原酶2型缺乏症引产儿大体外观图像。图a示引产儿阴茎短小;图b示引产儿尿道下裂
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