女性性反转综合征合并性腺母细胞瘤及无性细胞瘤一例  

A Case of Female Sexual Reversal Syndrome Combined with Gonadoblastoma and Dysgerminoma

作　　者：王敏[1] 马帅 李丹[2] 郑连文[1] 刘巍 WANG Min;MA Shuai;LI Dan;ZHENG Lian-wen;LIU Wei(Department of Obstetrics and Gynecology,The Second Hospital of Jilin University,Changchun 130041,China;Department of Ultrasound Medicine,The Second Hospital of Jilin University,Changchun 130041,China;Department of Radiology,The Second Hospital of Jilin University,Changchun 130041,China)

机构地区：[1]吉林大学第二医院妇产科,长春130041 [2]吉林大学第二医院超声医学科,长春130041 [3]吉林大学第二医院放射科,长春130041

出　　处：《国际生殖健康／计划生育杂志》2023年第3期211-212,217,共3页Journal of International Reproductive Health/Family Planning

摘　　要：性反转综合征是一类染色体性别与性腺性别不相符的遗传性疾病,其发病率极低、发病机制不详且相关临床表现各异。现报告1例染色体核型为46,XY,但其社会性别、内外生殖器均为女性,且右侧卵巢伴有性腺母细胞瘤及无性细胞瘤患者的病例资料,以期为该病的相关诊疗及研究提供一些新的临床思路。Sexual reversal syndrome is a kind of hereditary disease whose chromosome sex is not consistent with gonad sex.The incidence is very low,and pathogenesis is unknown.The related clinical manifestations are different.This paper report a patient with 46,XY chromosome karyotype,but her gender,internal and external genitalia are female,and the right ovary is accompanied by gonadoblastoma and dysgerminoma,in order to provide some new clinical ideas for the diagnosis,treatment and research of sex reversal syndrome.

关 键 词：性腺发育不全 46 XY 性腺母细胞瘤 无性细胞瘤 基因 sry 性别决定区Y蛋白质 性反转综合征 

分 类 号：R737.3[医药卫生—肿瘤]