国际生殖健康/计划生育杂志

国际生殖健康/计划生育杂志 ›› 2023, Vol. 42 ›› Issue (3): 211-212.doi: 10.12280/gjszjk.20220423

• 病例报告 • 上一篇    下一篇

女性性反转综合征合并性腺母细胞瘤及无性细胞瘤一例

王敏, 马帅, 李丹, 郑连文, 刘巍()   

  1. 130041 长春，吉林大学第二医院妇产科（王敏，马帅，郑连文），超声医学科（李丹），放射科（刘巍）
  • 收稿日期:2022-08-30 出版日期:2023-05-15 发布日期:2023-05-18
  • 通讯作者: 刘巍 E-mail:1084840943@qq.com

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

WANG Min, MA Shuai, LI Dan, ZHENG Lian-wen, LIU Wei()   

  1. Department of Obstetrics and Gynecology (WANG Min, MA Shuai, ZHENG Lian-wen), Department of Ultrasound Medicine (LI Dan), Department of Radiology (LIU Wei), The Second Hospital of Jilin University, Changchun 130041, China
  • Received:2022-08-30 Published:2023-05-15 Online:2023-05-18
  • Contact: LIU Wei E-mail:1084840943@qq.com

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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。

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

Abstract:

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.

Key words: Gonadal dysgenesis, 46, XY, Gonadoblastoma, Dysgerminoma, Genes, sry, Sex-determining region Y protein, Sexual reversal syndrome