Association between cytogenetic alteration and the audiometric profile of individuals with Turner syndrome
Autor(a) principal: | |
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Data de Publicação: | 2021 |
Outros Autores: | , , , , |
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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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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1754575994861125632 |