Tumors of dysgenetic gonads in Swyer syndrome

Background/Purpose: The female with Swyer syndrome requires close follow-up because of the highrisk 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, I dysgerminoma, and 2 gonadoblastoma with dysgerminoma). Hormonal activity of gonadoblastoma was noted in 3 patients, with I 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. (C) 2007 Elsevier Inc. All rights reserved.