Abstract: Mutations in the NR5A1 gene are a frequent cause of 46， XY disorders of sex development. This article retrospectively analyzes the clinical data of a family affected by 46， XY disorder of sex development due to NR5A1 gene mutations and reviews relevant literature. A 2-year-old child， initially identified as female at birth， presented with "ambiguous external genitalia for 1 year" and was subsequently diagnosed with micropenis， hypospadias， and cryptorchidism. There was no abnormal adrenal phenotype. Genetic testing revealed a heterozygous missense mutation p.（Arg84Gly） in the NR5A1 gene. Further genetic analysis confirmed that the mutation was inherited from the child's mother and was also present in the child's elder brother and sister， each displaying varying clinical manifestations. Heterozygous mutations in the NR5A1 gene are a common cause of 46， XY disorders of sex development， and individuals with the same NR5A1 gene variant may exhibit diverse clinical phenotypes， complicating the correlation between genotype and phenotype. Treatment plans should be determined by healthcare professionals and patients together， taking into account the child's age， gender identity， and the severity of external genitalia abnormalities.

Key words: 46, XY, disorders of sex development, hypospadias, steroidogenic factor 1, NR5A1

摘要： NR5A1基因突变是引起46，XY性腺发育异常的常见原因。文章回顾性分析NR5A1（nuclearreceptor subfamily 5，group A，member 1）基因突变导致46，XY性发育异常1家系的临床资料，并复习相关文献。2岁10月龄患儿，社会性别女，因“外生殖器异常1年”就诊，就诊发现小阴茎、尿道下裂及隐睾，无肾上腺异常表型，基因检测发现NR5A1基因杂合错义突变p.（Arg84Gly）。基因验证发现该突变来源于患儿母亲，并同时遗传给了患儿的兄姊，临床表现各异。NR5A1基因杂合突变是46，XY性发育异常的常见病因之一，携带同一NR5A1基因突变的不同患者可具有不同临床表型，基因型与表型的相关性有时难以确定。治疗方案应综合考虑患儿年龄、心理性别、外生殖器异常程度等因素，由医患共同决定。

关键词: 46, XY, 性腺发育异常, 尿道下裂, 类固醇生成因子1, NR5A1