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

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

Author Bianco, Bianca Google Scholar
Nunes Lipay, Monica Vannucci Google Scholar
Melaragno, Maria Isabel Google Scholar
Guedes, Alexis Dourado Google Scholar
Verreschi, Ieda T. N. Google Scholar
Institution Universidade Federal de São Paulo (UNIFESP)
Abstract 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.
Keywords Turner's syndrome
Y chromosome mosaicism
gonadoblastoma
SRY gene
Language English
Date 2006-09-01
Published in Journal Of Pediatric Endocrinology & Metabolism. Tel Aviv: Freund Publishing House Ltd, v. 19, n. 9, p. 1113-1117, 2006.
ISSN 0334-018X (Sherpa/Romeo, impact factor)
Publisher Freund Publishing House Ltd
Extent 1113-1117
Origin http://dx.doi.org/10.1515/JPEM.2006.19.9.1113
Access rights Closed access
Type Article
Web of Science ID WOS:000242002500003
URI http://repositorio.unifesp.br/11600/44540

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