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

Autor(es)

Bianco, Bianca ^[1] ; Lipay, Monica ^[2] ; Guedes, Alexis ^[1] ; Oliveira, Kelly ^[1] ; Verreschi, Ieda T. N. ^[1]

Afiliação do(s) autor(es)

^[1] Univ Fed Sao Paulo, Lab Esteroides, Div Endocrinol, Dept Med, BR-04039032 Sao Paulo - Brazil

^[2] Univ Fed Sao Paulo, Div Genet, Dept Morphol & Genet, BR-04039032 Sao Paulo - Brazil

• Tipo de documento: Artigo Científico
• Fonte: INTERNATIONAL JOURNAL OF GYNECOLOGICAL PATHOLOGY; v. 28, n. 2, p. 197-202, MAR 2009.
• Citações Web of Science: 34

Resumo

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. (AU)

• Processo FAPESP: 07/01241-0 - Mecanismos de diferenciação sexual em aneuploidias cromossômicas: correlação com genes predisponentes a tumorigênese gonadal com enfoque na síndrome de Turner
• Beneficiário: Ieda Therezinha Do Nascimento Verreschi
• Modalidade de apoio: Auxílio à Pesquisa - Regular