de Souza Roberta Fonseca, Pereira da Silva Janaina, Vieira Balla Bruno, Neves Ferreira Rodrigo, Chambô Filho Antônio
Department of Obstetrics and Gynecology, Santa Casa de Misericórdia, Vitória, ES, Brazil.
Santa Casa de Misericórdia, Vitória, ES, Brazil.
Case Rep Obstet Gynecol. 2017;2017:8357235. doi: 10.1155/2017/8357235. Epub 2017 Mar 13.
Androgen insensitivity syndrome is the most common cause of male pseudohermaphroditism and the third most common cause of primary amenorrhea. This genetic alteration is a consequence of inherited defects on the X chromosome causing total or partial damage to the intrauterine virilization process due to functional abnormalities in the androgen receptors. The present report describes a 22-year-old patient with a female phenotype and a 46, XY karyotype, presenting with bilateral inguinal tumors. The tumors were surgically removed at the Hospital in Vitória, Espírito Santo, Brazil. Pathology revealed bilateral testicles with Sertoli cell tumors. According to the international literature, prophylactic gonadectomy following puberty is recommended due to the progressive risk of neoplastic transformation in the residual gonads.
雄激素不敏感综合征是男性假两性畸形最常见的原因，也是原发性闭经的第三大常见原因。这种基因改变是X染色体遗传缺陷的结果，由于雄激素受体功能异常，导致子宫内男性化过程完全或部分受损。本报告描述了一名22岁女性表型、核型为46, XY的患者，伴有双侧腹股沟肿瘤。该肿瘤在巴西圣埃斯皮里图州维多利亚市的医院接受了手术切除。病理检查显示双侧睾丸伴有支持细胞瘤。根据国际文献，由于残留性腺发生肿瘤转化的风险不断增加，建议在青春期后进行预防性性腺切除术。
