46, XY 性发育障碍儿童 NR5A1 基因突变 1 例报告及文献复习

目的探讨NR5A1基因突变导致的46,XY性发育障碍(DSD)的临床表现和分子诊断。方法回顾分析1例社会性别为女性的46,XY DSD患儿的临床资料,并复习相关文献。结果社会性别为女性的11.5岁患儿,因偶然发现阴蒂肥大半个月就诊;初步系列实验室检查诊断考虑支持46,XY DSD,高促性腺激素性发育不良。全基因组外显子组DNA测序提示NR5A1基因,c.937 CT,p.Arg313Cys杂合突变;母亲为杂合突变携带者,父亲无异常。结论临床表现为46,XY DSD,性腺发育不良、外生殖器女性化合并肾上腺功能不足;提示存在SF1基因突变的可能性,全基因组外显子基因测序可帮助明确诊断。

NR5A1 gene mutation in child with 46, XY disorders of sex development: a case report and literature review

Objective To explore the clinical features and molecular diagnosis of 46, XY disorder of sex development (46, XY DSD).Methods The clinic data of one child with 46, XY DSD raised as female were retrospectively analyzed, and related literatures were reviewed.Results The 11.5-year-old child raised as female visited clinic due to, “accidently found clitoral hypertrophy for half month”. Preliminary series of laboratory examinations supported the diagnosis of 46, XY DSD, high gonadal hormone dysplasia. DNA sequencing of the whole genome exon group showed a heterozygous mutation of c.937C>T, p.Arg313Cys inNR5A1 gene. No abnormality was detected in her father, while her mother was a heterozygous mutation carrier. Conclusions 46, XY DSD can be diagnosed by the whole genome exon gene sequencing.