Prevalence of Y-chromosome sequences and gonadoblastoma in Turner syndrome

Detalhes bibliográficos
Autor(a) principal: Marqui,Alessandra Bernadete Trovó de
Data de Publicação: 2016
Outros Autores: Silva-Grecco,Roseane Lopes da, Balarin,Marly Aparecida Spadotto
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Revista Paulista de Pediatria (Ed. Português. Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0103-05822016000100114
Resumo: Abstract Objective: To assess the prevalence of Y-chromosome sequences and gonadoblastoma in patients with Turner syndrome (TS) using molecular techniques. Data source: A literature search was performed in Pubmed, limiting the period of time to the years 2005–2014 and using the descriptors: TS and Y sequences (n=26), and TS 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. Data synthesis: The main results regarding the prevalence of Y-chromosome sequences in TS 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 polymerase chain reaction, 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 10–25%; in two of them it was zero. Conclusions: 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.
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spelling Prevalence of Y-chromosome sequences and gonadoblastoma in Turner syndromeTurner syndromeY chromosomeGonadoblastomaPrevalencePolymerase chain reactionGonadal dysgenesisAbstract Objective: To assess the prevalence of Y-chromosome sequences and gonadoblastoma in patients with Turner syndrome (TS) using molecular techniques. Data source: A literature search was performed in Pubmed, limiting the period of time to the years 2005–2014 and using the descriptors: TS and Y sequences (n=26), and TS 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. Data synthesis: The main results regarding the prevalence of Y-chromosome sequences in TS 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 polymerase chain reaction, 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 10–25%; in two of them it was zero. Conclusions: 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.Sociedade de Pediatria de São Paulo2016-03-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0103-05822016000100114Revista Paulista de Pediatria v.34 n.1 2016reponame:Revista Paulista de Pediatria (Ed. Português. Online)instname:Sociedade de Pediatria de São Paulo (SPSP)instacron:SPSP10.1016/j.rppede.2015.12.004info:eu-repo/semantics/openAccessMarqui,Alessandra Bernadete Trovó deSilva-Grecco,Roseane Lopes daBalarin,Marly Aparecida Spadottoeng2018-04-03T00:00:00Zoai:scielo:S0103-05822016000100114Revistahttps://www.rpped.com.br/ONGhttps://old.scielo.br/oai/scielo-oai.phppediatria@spsp.org.br||rpp@spsp.org.br1984-04620103-0582opendoar:2018-04-03T00:00Revista Paulista de Pediatria (Ed. Português. Online) - Sociedade de Pediatria de São Paulo (SPSP)false
dc.title.none.fl_str_mv Prevalence of Y-chromosome sequences and gonadoblastoma in Turner syndrome
title Prevalence of Y-chromosome sequences and gonadoblastoma in Turner syndrome
spellingShingle Prevalence of Y-chromosome sequences and gonadoblastoma in Turner syndrome
Marqui,Alessandra Bernadete Trovó de
Turner syndrome
Y chromosome
Gonadoblastoma
Prevalence
Polymerase chain reaction
Gonadal dysgenesis
title_short Prevalence of Y-chromosome sequences and gonadoblastoma in Turner syndrome
title_full Prevalence of Y-chromosome sequences and gonadoblastoma in Turner syndrome
title_fullStr Prevalence of Y-chromosome sequences and gonadoblastoma in Turner syndrome
title_full_unstemmed Prevalence of Y-chromosome sequences and gonadoblastoma in Turner syndrome
title_sort Prevalence of Y-chromosome sequences and gonadoblastoma in Turner syndrome
author Marqui,Alessandra Bernadete Trovó de
author_facet Marqui,Alessandra Bernadete Trovó de
Silva-Grecco,Roseane Lopes da
Balarin,Marly Aparecida Spadotto
author_role author
author2 Silva-Grecco,Roseane Lopes da
Balarin,Marly Aparecida Spadotto
author2_role author
author
dc.contributor.author.fl_str_mv Marqui,Alessandra Bernadete Trovó de
Silva-Grecco,Roseane Lopes da
Balarin,Marly Aparecida Spadotto
dc.subject.por.fl_str_mv Turner syndrome
Y chromosome
Gonadoblastoma
Prevalence
Polymerase chain reaction
Gonadal dysgenesis
topic Turner syndrome
Y chromosome
Gonadoblastoma
Prevalence
Polymerase chain reaction
Gonadal dysgenesis
description Abstract Objective: To assess the prevalence of Y-chromosome sequences and gonadoblastoma in patients with Turner syndrome (TS) using molecular techniques. Data source: A literature search was performed in Pubmed, limiting the period of time to the years 2005–2014 and using the descriptors: TS and Y sequences (n=26), and TS 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. Data synthesis: The main results regarding the prevalence of Y-chromosome sequences in TS 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 polymerase chain reaction, 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 10–25%; in two of them it was zero. Conclusions: 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.
publishDate 2016
dc.date.none.fl_str_mv 2016-03-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0103-05822016000100114
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0103-05822016000100114
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1016/j.rppede.2015.12.004
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv Sociedade de Pediatria de São Paulo
publisher.none.fl_str_mv Sociedade de Pediatria de São Paulo
dc.source.none.fl_str_mv Revista Paulista de Pediatria v.34 n.1 2016
reponame:Revista Paulista de Pediatria (Ed. Português. Online)
instname:Sociedade de Pediatria de São Paulo (SPSP)
instacron:SPSP
instname_str Sociedade de Pediatria de São Paulo (SPSP)
instacron_str SPSP
institution SPSP
reponame_str Revista Paulista de Pediatria (Ed. Português. Online)
collection Revista Paulista de Pediatria (Ed. Português. Online)
repository.name.fl_str_mv Revista Paulista de Pediatria (Ed. Português. Online) - Sociedade de Pediatria de São Paulo (SPSP)
repository.mail.fl_str_mv pediatria@spsp.org.br||rpp@spsp.org.br
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