| Full text | |
| Author(s): |
Rocco de Oliveira, Rose Mary
[1]
;
do Nascimento Verreschi, Ieda Therezinha
[1]
;
Nunes Lipay, Monica Vannucci
[1]
;
Eca, Lilian Pinero
[1]
;
Guedes, Alexis Dourado
[1]
;
Bianco, Bianca
[2]
Total Authors: 6
|
| Affiliation: | [1] CEU, Postgrad Course Cell & Mol Biol, Sao Paulo - Brazil
[2] Univ Fed Sao Paulo, Disciplina Endocrinol, Dept Med, Div Endocrinol, BR-04039032 Sao Paulo - Brazil
Total Affiliations: 2
|
| Document type: | Journal article |
| Source: | São Paulo Medical Journal; v. 127, n. 6, p. 373-378, NOV 5 2009. |
| Web of Science Citations: | 31 |
| Abstract | |
Turner syndrome (TS) is one of the most common types of aneuploidy among humans, and is present in 1:2000 newborns with female phenotype. Cytogenetically, the syndrome is characterized by sex chromosome monosomy (45,X), which is present in 50-60% of the cases. The other cases present mosaicism, with a 45,X cell line accompanied by one or more other cell lines with a complete or structurally abnormal X or Y chromosome. The presence of Y-chromosome material in patients with dysgenetic gonads increases the risk of gonadal tumors, especially gonadoblastoma. The greatest concern is the high risk of developing gonadoblastoma or other tumors and virilization during puberty if chromosome Y-specific sequences are present. The role of the Y chromosome in human oncogenesis is still controversial. Even though gonadoblastoma is a benign tumor, it can undergo transformation into invasive dysgerminoma in 60% of the cases, and also into other, malignant forms of germ cell tumors. Although some authors have questioned the high incidence of gonadoblastoma (around 30%), the risk of developing any kind of gonadal lesion, whether tumoral or not, justifies investigation of Y-chromosome sequences by means of the polymerase chain reaction (PCR), a highly sensitive, low-cost and easy-to-perform technique. In conclusion, mosaicism of both the X and the Y chromosome is a common finding in TS, and detection of Y-chromosome-specific sequences in patients, regardless of their karyotype, is necessary in order to prevent the development of 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 |