Detection of hidden Y mosaicism in Turner's syndrome: Importance in the prevention of gonadoblastoma

Date
2006-09-01Author
Bianco, Bianca Alves Vieira [UNIFESP]
Lipay, Monica Vannucci Nunes [UNIFESP]
Melaragno, Maria Isabel [UNIFESP]
Guedes, Alexis Dourado [UNIFESP]
Verreschi, Ieda Therezinha do Nascimento [UNIFESP]
Type
ArtigoISSN
0334-018XIs part of
Journal Of Pediatric Endocrinology & MetabolismDOI
10.1515/JPEM.2006.19.9.1113Metadata
Show full item recordAbstract
The presence of Y chromosome fragments in patients with Turner's syndrome (TS) is known to increase the risk of gonadoblastoma. The investigation of Y sequences is usually performed only in the presence of marker chromosomes and therefore does not rule out the presence of hidden mosaicism in patients with 45,X TS without any marker.Aims: 1. To investigate the presence of hidden Y mosaicism in non-mosaic 45,X patients with TS, using samples from different tissues, and its association with the development of gonadoblastoma.Study design: Twenty patients with a 45,X karyotype were studied. The SRY and DYZ3 sequences were amplified by PCR, using genomic DNA from peripheral blood, oral epithelial,cells and hair roots. Prophylactic gonadectomy was offered to the Y-positive patients.Results: The analysis of the different tissues revealed that seven (35%) out of the 20 patients studied presented hidden chromosome Y mosaicism. Four of these patients underwent prophylactic gonadectomy, and bilateral gonadoblastoma was found in one of them.Conclusions: A systematic search for hidden Y chromosome mosaicism in patients with TS and 45,X karyotype is justified by the possibility of developing gonadoblastoma.
Citation
Journal Of Pediatric Endocrinology & Metabolism. Tel Aviv: Freund Publishing House Ltd, v. 19, n. 9, p. 1113-1117, 2006.Collections
- EPM - Artigos [17701]
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