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PMID: 26525685 Published · ppublish por

[Prevalence of Y-chromosome sequences and gonadoblastoma in Turner syndrome].

de Marqui Alessandra Bernadete Trovó, da Silva-Grecco Roseane Lopes, Balarin Marly Aparecida Spadotto

Abstract

To assess the prevalence of Y-chromosome sequences and gonadoblastoma in patients with Turner syndrome using molecular techniques.,A literature search was performed in Pubmed, limiting the period of time to the years 2005 to 2014 and using the descriptors: Turner syndrome and Y sequences (n=26), and Turner syndrome and Y-chromosome material (n=27). The inclusion criteria were: articles directly related to the subject and published in English or Portuguese. Articles which did not meet these criteria and review articles were excluded. After applying these criteria, 14 papers were left.,the main results regarding the prevalence of Y-chromosome sequences in Turner syndrome were: 1-about 60% of the studies were conducted by Brazilian researchers; 2-the prevalence varied from 4.6 to 60%; 3-the most frequently investigated genes were SRY, DYZ3 and TSPY; 4-seven studies used only PCR, while in the remaining seven it was associated with FISH. Nine of the 14 studies reported gonadectomy and gonadoblastoma. The highest prevalence of gonadoblastoma (33%) was found in two studies. In five out of the nine papers evaluated the prevalence of gonadoblastoma was 10 to 25%; in two of them it was zero.,according to these data, molecular analysis to detect Y-chromosome sequences in TS patients is indicated, regardless of their karyotype. In patients who test positive for these sequences, gonadoblastoma needs to be investigated.

Keywords
Cromossomo Y Disgenesia gonadal Gonadal dysgenesis Gonadoblastoma Polymerase chain reaction Prevalence Prevalência Reação em cadeia da polimerase Síndrome de Turner Turner syndrome Y chromosome
Article Info
Journal
Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo
Abbr.
Rev Paul Pediatr
Published
0000-00-00
Indexed
2016-03-07
Updated
2016-04-03
Language
por
Country/Region
Brazil
NLM ID
9109353
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