Association between cytogenetic alteration and the audiometric profile of individuals with Turner syndrome

Detalhes bibliográficos
Autor(a) principal: Bazilio,Martha Marcela de Matos
Data de Publicação: 2021
Outros Autores: Santos,Adriana Fernandes Duarte dos, Almeida,Fernanda Gomes de, Frota,Silvana, Guimarães,Marília, Ribeiro,Márcia Gonçalves
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Brazilian Journal of Otorhinolaryngology
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1808-86942021000600728
Resumo: Abstract Introduction: Turner syndrome is a frequent genetic disorder that affects female individuals and covers a large phenotypic variability. Scientific literature suggests an association between hearing loss and Turner syndrome, but it remains a controversial topic. Objective: To associate the cytogenetic alteration with the audiometric profile of individuals with Turner syndrome. Methods: Cross-sectional study, with a hospital-based, convenience sample. Patients diagnosed with Turner syndrome were included and those with difficulty understanding the audiometry and/or other associated syndromes were excluded. The participants were studied with pure tone audiometry. Results: Of the 65 patients included, 36.9% had X chromosome monosomy and 63.0% had other alterations. Regarding the audiometry, 64.6% had normal thresholds and 35.3% had hearing impairment. Of these, 30.4% had hybrid hearing loss, 26.0% alteration at 6 and/or 8 kHz, 17.3% had conductive hearing loss, 13.0% sensorineural loss and 13.0% had mixed hearing loss. We observed that the mild degree was the most frequent one. There was no statistically significant association between the cytogenetic type of Turner syndrome and the presence or absence of hearing loss, or with the type and degree of hearing loss. Conclusion: The cytogenetic alteration in Turner syndrome was not associated with the audiometric profile, which showed variability regarding the type and degree of hearing loss.
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spelling Association between cytogenetic alteration and the audiometric profile of individuals with Turner syndromeHearing lossAudiometryHearingHearing disordersTurner syndromeAbstract Introduction: Turner syndrome is a frequent genetic disorder that affects female individuals and covers a large phenotypic variability. Scientific literature suggests an association between hearing loss and Turner syndrome, but it remains a controversial topic. Objective: To associate the cytogenetic alteration with the audiometric profile of individuals with Turner syndrome. Methods: Cross-sectional study, with a hospital-based, convenience sample. Patients diagnosed with Turner syndrome were included and those with difficulty understanding the audiometry and/or other associated syndromes were excluded. The participants were studied with pure tone audiometry. Results: Of the 65 patients included, 36.9% had X chromosome monosomy and 63.0% had other alterations. Regarding the audiometry, 64.6% had normal thresholds and 35.3% had hearing impairment. Of these, 30.4% had hybrid hearing loss, 26.0% alteration at 6 and/or 8 kHz, 17.3% had conductive hearing loss, 13.0% sensorineural loss and 13.0% had mixed hearing loss. We observed that the mild degree was the most frequent one. There was no statistically significant association between the cytogenetic type of Turner syndrome and the presence or absence of hearing loss, or with the type and degree of hearing loss. Conclusion: The cytogenetic alteration in Turner syndrome was not associated with the audiometric profile, which showed variability regarding the type and degree of hearing loss.Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial.2021-11-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1808-86942021000600728Brazilian Journal of Otorhinolaryngology v.87 n.6 2021reponame:Brazilian Journal of Otorhinolaryngologyinstname:Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial (ABORL-CCF)instacron:ABORL-CCF10.1016/j.bjorl.2020.03.005info:eu-repo/semantics/openAccessBazilio,Martha Marcela de MatosSantos,Adriana Fernandes Duarte dosAlmeida,Fernanda Gomes deFrota,SilvanaGuimarães,MaríliaRibeiro,Márcia Gonçalveseng2021-12-02T00:00:00Zoai:scielo:S1808-86942021000600728Revistahttp://www.bjorl.org.br/https://old.scielo.br/oai/scielo-oai.phprevista@aborlccf.org.br||revista@aborlccf.org.br1808-86861808-8686opendoar:2021-12-02T00:00Brazilian Journal of Otorhinolaryngology - Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial (ABORL-CCF)false
dc.title.none.fl_str_mv Association between cytogenetic alteration and the audiometric profile of individuals with Turner syndrome
title Association between cytogenetic alteration and the audiometric profile of individuals with Turner syndrome
spellingShingle Association between cytogenetic alteration and the audiometric profile of individuals with Turner syndrome
Bazilio,Martha Marcela de Matos
Hearing loss
Audiometry
Hearing
Hearing disorders
Turner syndrome
title_short Association between cytogenetic alteration and the audiometric profile of individuals with Turner syndrome
title_full Association between cytogenetic alteration and the audiometric profile of individuals with Turner syndrome
title_fullStr Association between cytogenetic alteration and the audiometric profile of individuals with Turner syndrome
title_full_unstemmed Association between cytogenetic alteration and the audiometric profile of individuals with Turner syndrome
title_sort Association between cytogenetic alteration and the audiometric profile of individuals with Turner syndrome
author Bazilio,Martha Marcela de Matos
author_facet Bazilio,Martha Marcela de Matos
Santos,Adriana Fernandes Duarte dos
Almeida,Fernanda Gomes de
Frota,Silvana
Guimarães,Marília
Ribeiro,Márcia Gonçalves
author_role author
author2 Santos,Adriana Fernandes Duarte dos
Almeida,Fernanda Gomes de
Frota,Silvana
Guimarães,Marília
Ribeiro,Márcia Gonçalves
author2_role author
author
author
author
author
dc.contributor.author.fl_str_mv Bazilio,Martha Marcela de Matos
Santos,Adriana Fernandes Duarte dos
Almeida,Fernanda Gomes de
Frota,Silvana
Guimarães,Marília
Ribeiro,Márcia Gonçalves
dc.subject.por.fl_str_mv Hearing loss
Audiometry
Hearing
Hearing disorders
Turner syndrome
topic Hearing loss
Audiometry
Hearing
Hearing disorders
Turner syndrome
description Abstract Introduction: Turner syndrome is a frequent genetic disorder that affects female individuals and covers a large phenotypic variability. Scientific literature suggests an association between hearing loss and Turner syndrome, but it remains a controversial topic. Objective: To associate the cytogenetic alteration with the audiometric profile of individuals with Turner syndrome. Methods: Cross-sectional study, with a hospital-based, convenience sample. Patients diagnosed with Turner syndrome were included and those with difficulty understanding the audiometry and/or other associated syndromes were excluded. The participants were studied with pure tone audiometry. Results: Of the 65 patients included, 36.9% had X chromosome monosomy and 63.0% had other alterations. Regarding the audiometry, 64.6% had normal thresholds and 35.3% had hearing impairment. Of these, 30.4% had hybrid hearing loss, 26.0% alteration at 6 and/or 8 kHz, 17.3% had conductive hearing loss, 13.0% sensorineural loss and 13.0% had mixed hearing loss. We observed that the mild degree was the most frequent one. There was no statistically significant association between the cytogenetic type of Turner syndrome and the presence or absence of hearing loss, or with the type and degree of hearing loss. Conclusion: The cytogenetic alteration in Turner syndrome was not associated with the audiometric profile, which showed variability regarding the type and degree of hearing loss.
publishDate 2021
dc.date.none.fl_str_mv 2021-11-01
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=S1808-86942021000600728
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1808-86942021000600728
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1016/j.bjorl.2020.03.005
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 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial.
publisher.none.fl_str_mv Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial.
dc.source.none.fl_str_mv Brazilian Journal of Otorhinolaryngology v.87 n.6 2021
reponame:Brazilian Journal of Otorhinolaryngology
instname:Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial (ABORL-CCF)
instacron:ABORL-CCF
instname_str Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial (ABORL-CCF)
instacron_str ABORL-CCF
institution ABORL-CCF
reponame_str Brazilian Journal of Otorhinolaryngology
collection Brazilian Journal of Otorhinolaryngology
repository.name.fl_str_mv Brazilian Journal of Otorhinolaryngology - Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial (ABORL-CCF)
repository.mail.fl_str_mv revista@aborlccf.org.br||revista@aborlccf.org.br
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