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中华临床医师杂志(电子版) ›› 2018, Vol. 12 ›› Issue (07) : 423 -426. doi: 10.3877/cma.j.issn.1674-0785.2018.07.012

所属专题: 经典病例 文献

病例报告

NR5A1基因突变致46,XY女性表型性发育障碍一例并文献复习
李治1, 刘芳1,()   
  1. 1. 050082 石家庄,中国人民解放军联勤保障部队第九八〇医院新生儿科
  • 收稿日期:2018-02-26 出版日期:2018-04-01
  • 通信作者: 刘芳

NR5A1 gene mutation complicated with 46,XY disorder of sex development: a case report and literature review

zhi Li1, fang Liu1()   

  • Received:2018-02-26 Published:2018-04-01
  • Corresponding author: fang Liu
引用本文:

李治, 刘芳. NR5A1基因突变致46,XY女性表型性发育障碍一例并文献复习[J]. 中华临床医师杂志(电子版), 2018, 12(07): 423-426.

zhi Li, fang Liu. NR5A1 gene mutation complicated with 46,XY disorder of sex development: a case report and literature review[J]. Chinese Journal of Clinicians(Electronic Edition), 2018, 12(07): 423-426.

图1 患儿外生殖器 呈女婴外生殖器外形,可见大小阴唇,未见阴道,大阴唇可触及大小约2 cm×2 cm疑似阴囊肿物,表面存在色素沉着,触之有波动感,其内未触及睾丸,无阴茎。图1a为正面观,图1b为上面观
图2 患儿染色体核型为46 XY
图3 患儿及其父母NR5A1基因测序结果 图3a为患儿c.614delC;3b为患儿父亲;3c为患儿母亲
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