SRY Gene Increases the Risk of Developing Gonadoblastoma and/or Nontumoral Gonadal Lesions in Turner Syndrome

SRY Gene Increases the Risk of Developing Gonadoblastoma and/or Nontumoral Gonadal Lesions in Turner Syndrome

Author Bianco, Bianca Autor UNIFESP Google Scholar
Lipay, Monica Autor UNIFESP Google Scholar
Guedes, Alexis Autor UNIFESP Google Scholar
Oliveira, Kelly Cristina de Autor UNIFESP Google Scholar
Verreschi, Ieda T. N. Autor UNIFESP Google Scholar
Institution Universidade Federal de São Paulo (UNIFESP)
Abstract The presence of Y-chromosome material in patients with dysgenetic gonads increases the risk of gonadal tumors and/or nontumoral androgen-producing lesions. the patients' prognosis can vary, depending oil their karyotype. the objective;c of this study vas to investigate the presence of Y-chromosome mosaicism in Turner syndrome patients and its association with the development of gonadal tumors and/or nontumoral androgen-producing lesions. Eighty-seven Turner syndrome patient., Were studied. Genomic DNA was extracted from peripheral blood and genes SRY and TSPY and DYZ3 repeat of the Y chromosome were amplified by polymerase chain reaction. To the Y-positive patients, prophylactic gonadectomy was offered. the data disclosed hidden Y-chromosome mosaicism in 16 (18.5%) of the patients. SRY sequence was detected in all of the 16 patients, and 4 (4.6%) of them presented DYZ3 repeat region and TSPY gene. Eleven of the patients with Y-positive sequences agreed to Undergo the prophylactic Surgery. in 2 cases, bilateral gonadoblastoma was found and, in another case, the histopathologic study of the gonads revealed hilus Cell hyperplasia. in a further case. there were hilus cell hyperplasia and a stromal luteoma. in Conclusion, a systematic search for hidden Y-chromosome mosaicism, especially SRY, in Turner syndrome Patients is justified by the possibility of preventing gonadal lesions.
Keywords Turner syndrome
Y-chromosome mosaicism
Gonadoblastoma
Nontumoral gonadal lesions
SRY gene
Language English
Sponsor Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
Grant number FAPESP: 2007/01241-0
Date 2009-03-01
Published in International Journal of Gynecological Pathology. Philadelphia: Lippincott Williams & Wilkins, v. 28, n. 2, p. 197-202, 2009.
ISSN 0277-1691 (Sherpa/Romeo, impact factor)
Publisher Lippincott Williams & Wilkins
Extent 197-202
Origin http://dx.doi.org/10.1097/PGP.0b013e318186a825
Access rights Closed access
Type Article
Web of Science ID WOS:000263624200016
URI http://repositorio.unifesp.br/handle/11600/31370

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