Tumors of dysgenetic gonads in Swyer syndrome.
OBJECTIVE
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.


CONCLUSIONS
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.
Zieliñska
Dorota
D
Departament of Gynecological Surgery and Oncology of Adult and Adolescents, Pomeranian Medical University, 70-111 Szczecin, Poland.
Zajaczek
Stanislaw
S
Rzepka-Górska
Izabella
I
D000293:Adolescent; D000728:Androgens / Q000378:metabolism; D002369:Castration; D004407:Dysgerminoma / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D004958:Estradiol / Q000097:blood; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D024282:Genes, sry; D006061:Gonadal Dysgenesis, 46,XY / Q000175:diagnosis / Q000473:pathology*; D018238:Gonadoblastoma / Q000235:genetics* / Q000378:metabolism / Q000473:pathology / Q000601:surgery; D006066:Gonads / Q000473:pathology* / Q000601:surgery; D006801:Humans; D007621:Karyotyping; D007986:Luteinizing Hormone / Q000097:blood; D008297:Male; D009386:Neoplastic Syndromes, Hereditary / Q000473:pathology* / Q000601:surgery; D010641:Phenotype; D046468:Sexual Development / Q000235:genetics
D000728:Androgens; D004958:Estradiol; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone