Gynaecology Department, Manchester University NHS Foundation Trust, Saint Mary's Hospital, Manchester, United Kingdom.
Gynaecology Department, Manchester University NHS Foundation Trust, Saint Mary's Hospital, Manchester, United Kingdom.
J Pediatr Adolesc Gynecol. 2021 Dec;34(6):869-871. doi: 10.1016/j.jpag.2021.04.008. Epub 2021 May 11.
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.
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.
Both bilateral salpingectomies and bilateral gonadectomies should be recommended as the operation of choice in patients with Swyer Syndrome.
46XY 单纯性腺发育不全（Swyer 综合征）是一种罕见的性发育障碍。患者具有 46XY 核型，但表型上呈女性，具有正常的外生殖器和阴道。尽管患者表现出正常的 Müllerian 结构（子宫、输卵管和阴道），但他们拥有一对双侧未分化的性腺带。青春期延迟和原发性闭经是常见的表现。由于在性腺中存在发生肿瘤的风险增加，因此建议进行双侧性腺切除术。
一名 16 岁的女孩因原发性闭经就诊，被诊断为 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。她未发现性腺恶性肿瘤，相反，仅在输卵管内发现有胚胎细胞瘤。
对于患有 Swyer 综合征的患者，双侧输卵管切除术和双侧性腺切除术均应作为首选手术。
