| Full text | |
| Author(s): |
Bianco, Bianca
[1]
;
Lipay, Monica
[2]
;
Guedes, Alexis
[1]
;
Oliveira, Kelly
[1]
;
Verreschi, Ieda T. N.
[1]
Total Authors: 5
|
| Affiliation: | [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
Total Affiliations: 2
|
| Document type: | Journal article |
| Source: | INTERNATIONAL JOURNAL OF GYNECOLOGICAL PATHOLOGY; v. 28, n. 2, p. 197-202, MAR 2009. |
| Web of Science Citations: | 34 |
| 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. (AU) | |
| FAPESP's process: | 07/01241-0 - Sexual differentiation mechanisms in chromosomal aneuploidies: a correlation with genes determining gonadal tumorigenesis with emphasis in Turner syndrome |
| Grantee: | Ieda Therezinha Do Nascimento Verreschi |
| Support Opportunities: | Regular Research Grants |