Background

46XY pure gonadal dysgenesis (Swyer syndrome) is a rare disorder of sexual development. Patients have a 46XY karyotype, though phenotypically they appear female with normal external genitalia and vagina. Although patients exhibit normal Müllerian structures (uterus, fallopian tubes, and vagina), they possess a pair of bilateral undifferentiated gonad streaks. Delayed puberty and primary amenorrhea are the common presentations. There is an increased risk of developing tumors in the gonads and therefore a bilateral gonadectomy is recommended.

Case

A 16-year-old girl who presented with primary amenorrhea was diagnosed with Swyer syndrome. She underwent prophylactic bilateral gonadectomy and salpingectomies. She was discovered to have no gonadal malignancy, conversely dysgerminoma solely within the fallopian tube.

Summary and Conclusion

Both bilateral salpingectomies and bilateral gonadectomies should be recommended as the operation of choice in patients with Swyer Syndrome.

中文翻译：

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Swyer 综合征：一例仅在输卵管内的无性细胞瘤

背景

46XY 纯性腺发育不全（Swyer 综合征）是一种罕见的性发育障碍。患者具有 46XY 核型，尽管他们在表型上表现为女性，外生殖器和阴道正常。尽管患者表现出正常的苗勒管结构（子宫、输卵管和阴道），但他们具有一对双侧未分化的性腺条纹。青春期延迟和原发性闭经是常见的表现。性腺发生肿瘤的风险增加，因此建议进行双侧性腺切除术。

案件

一名出现原发性闭经的 16 岁女孩被诊断出患有 Swyer 综合征。她接受了预防性双侧性腺切除术和输卵管切除术。她被发现没有性​​腺恶性肿瘤，相反，仅在输卵管内有无性细胞瘤。

总结与结论

应推荐双侧输卵管切除术和双侧性腺切除术作为 Swyer 综合征患者的首选手术。