斯维尔综合征中发育异常性腺的肿瘤。
Tumors of dysgenetic gonads in Swyer syndrome.
作者信息
Zieliñska Dorota, Zajaczek Stanislaw, Rzepka-Górska Izabella
机构信息
Departament of Gynecological Surgery and Oncology of Adult and Adolescents, Pomeranian Medical University, 70-111 Szczecin, Poland.
出版信息
J Pediatr Surg. 2007 Oct;42(10):1721-4. doi: 10.1016/j.jpedsurg.2007.05.029.
BACKGROUND/PURPOSE: The female with Swyer syndrome requires close follow-up because of the high risk of neoplastic transformation in the dysgenetic gonads. The aim of this work was to present our experience with tumors in patients with Swyer syndrome.
METHODS
We studied 8 females with Swyer syndrome. At the time of diagnosis, they were 13 to 18 years old. We performed an ultrasound examination of dysgenetic gonads, hormonal (follicle-stimulating hormone, luteinizing hormone, estradiol, and testosterone) and genetic (SRY, karyotype) tests, and histologic analysis of gonads (bilateral gonadectomy was performed in all patients).
RESULTS
Gonadal tumors were found in 6 patients (3 cases of gonadoblastoma, 1 dysgerminoma, and 2 gonadoblastoma with dysgerminoma). Hormonal activity of gonadoblastoma was noted in 3 patients, with 1 tumor producing androgens.
CONCLUSION
Our data suggest that patents with gonadal dysgenesis and 46,XY karyotype should be referred for bilateral gonadectomy because of the high risk of neoplastic transformation. Estrogen-producing gonadoblastoma may mask gonadal dysgenesis and delay the diagnosis of this pathology.
背景/目的：患有斯维尔综合征的女性因发育不全的性腺发生肿瘤转化的风险高，需要密切随访。本研究的目的是介绍我们在斯维尔综合征患者肿瘤方面的经验。
方法
我们研究了8例斯维尔综合征女性患者。诊断时，她们的年龄在13至18岁之间。我们对发育不全的性腺进行了超声检查、激素（促卵泡激素、促黄体生成素、雌二醇和睾酮）及基因（SRY、核型）检测，并对性腺进行了组织学分析（所有患者均进行了双侧性腺切除术）。
结果
6例患者发现性腺肿瘤（3例性腺母细胞瘤、1例无性细胞瘤、2例性腺母细胞瘤合并无性细胞瘤）。3例患者性腺母细胞瘤具有激素活性，其中1例肿瘤产生雄激素。
结论
我们的数据表明，由于肿瘤转化风险高，患有性腺发育不全及46,XY核型的患者应接受双侧性腺切除术。产生雌激素的性腺母细胞瘤可能掩盖性腺发育不全并延迟对该疾病的诊断。
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