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  • Title: Tumors of dysgenetic gonads in Swyer syndrome.
    Author: Zieliñska D, Zajaczek S, Rzepka-Górska I.
    Journal: J Pediatr Surg; 2007 Oct; 42(10):1721-4. PubMed ID: 17923202.
    Abstract:
    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.
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