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

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 cytogeneti...

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Autores principales:	Martha Marcela de Matos Bazilio, Adriana Fernandes Duarte dos Santos, Fernanda Gomes de Almeida, Silvana Frota, Marília Guimarães, Márcia Gonçalves Ribeiro
Formato:	article
Lenguaje:	EN
Publicado:	Elsevier 2021
Materias:	Hearing loss Audiometry Hearing Hearing disorders Turner syndrome Otorhinolaryngology RF1-547
Acceso en línea:	https://doaj.org/article/483c4ff6a5534fd180bad78ada30d23c
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spelling	oai:doaj.org-article:483c4ff6a5534fd180bad78ada30d23c2021-11-06T04:23:56ZAssociation between cytogenetic alteration and the audiometric profile of individuals with Turner syndrome1808-869410.1016/j.bjorl.2020.03.005https://doaj.org/article/483c4ff6a5534fd180bad78ada30d23c2021-11-01T00:00:00Zhttp://www.sciencedirect.com/science/article/pii/S1808869420300513https://doaj.org/toc/1808-8694Introduction: 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.Martha Marcela de Matos BazilioAdriana Fernandes Duarte dos SantosFernanda Gomes de AlmeidaSilvana FrotaMarília GuimarãesMárcia Gonçalves RibeiroElsevierarticleHearing lossAudiometryHearingHearing disordersTurner syndromeOtorhinolaryngologyRF1-547ENBrazilian Journal of Otorhinolaryngology, Vol 87, Iss 6, Pp 728-732 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Hearing loss Audiometry Hearing Hearing disorders Turner syndrome Otorhinolaryngology RF1-547
spellingShingle	Hearing loss Audiometry Hearing Hearing disorders Turner syndrome Otorhinolaryngology RF1-547 Martha Marcela de Matos Bazilio Adriana Fernandes Duarte dos Santos Fernanda Gomes de Almeida Silvana Frota Marília Guimarães Márcia Gonçalves Ribeiro Association between cytogenetic alteration and the audiometric profile of individuals with Turner syndrome
description	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.
format	article
author	Martha Marcela de Matos Bazilio Adriana Fernandes Duarte dos Santos Fernanda Gomes de Almeida Silvana Frota Marília Guimarães Márcia Gonçalves Ribeiro
author_facet	Martha Marcela de Matos Bazilio Adriana Fernandes Duarte dos Santos Fernanda Gomes de Almeida Silvana Frota Marília Guimarães Márcia Gonçalves Ribeiro
author_sort	Martha Marcela de Matos Bazilio
title	Association between cytogenetic alteration and the audiometric profile of individuals with 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
publisher	Elsevier
publishDate	2021
url	https://doaj.org/article/483c4ff6a5534fd180bad78ada30d23c
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Association between cytogenetic alteration and the audiometric profile of individuals with Turner syndrome

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