Ben Romdhane K, Bessrour A, Ben Amor M S, Ben Ayed M
Laboratoire d'anatomie et de cytologie pathologiques, Hôpital Habib-Thameur, Tunis, Tunisie.
Bull Cancer. 1988;75(3):263-9.
We report the clinical and pathologic findings in a 22-year-old woman with XY gonadal dysgenesis (Swyer's syndrome), who had bilateral gonadoblastoma associated on the right side with a dysgerminoma and an embryonal carcinoma. Swyer's syndrome is a distinct type of pure gonadal dysgenesis characterized by a 46 XY karyotype. It shows an abnormality in testicular differentiation. The patients are phenotypic females without stigmas of Turner syndrome. They have also elevated gonadotropins and hypoplastic gonads without germ-cells. The tumor that usually develops in Swyer's syndrome is gonadoblastoma. This tumor arises on dysgenesic gonads with a Y chromosome. Although gonadoblastoma is considered benign, the risk of malignant germ cell development is high. This means that these dysgenesic gonads should be removed surgically as soon as Swyer's syndrome is established.
我们报告了一名患有XY性腺发育不全（斯维尔综合征）的22岁女性的临床和病理结果，该患者双侧性腺母细胞瘤，右侧伴有无性细胞瘤和胚胎癌。斯维尔综合征是一种独特类型的单纯性腺发育不全，其特征为46 XY核型。它表现为睾丸分化异常。患者为表型女性，无特纳综合征的体征。她们还伴有促性腺激素升高和性腺发育不全且无生殖细胞。斯维尔综合征中通常发生的肿瘤是性腺母细胞瘤。这种肿瘤发生于具有Y染色体的发育异常性腺上。尽管性腺母细胞瘤被认为是良性的，但恶性生殖细胞发生的风险很高。这意味着一旦确诊斯维尔综合征，这些发育异常的性腺就应尽快手术切除。
