Audiological alterations in resistance to thyroid hormone syndrome: emphasizing lifelong assessment

ABSTRACT The aim of this study was to investigate the long-term audiological consequences of resistance to thyroid hormone (RTH) syndrome. The cochlea and inner ear express thyroid hormone receptor beta (THRB) in developmental stages. Hearing loss is frequent in subjects with RTH syndrome; however,...

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Main Authors: Alexandre Machado Silva de Oliveira, Viviane Motti, Jessica Casemiro, Pedro Resende Rende, Caio Leônidas Oliveira de Andrade, Luciene da Cruz Fernande, Helton Estrela Ramos
Format: Article
Language:English
Published: Brazilian Society of Endocrinology and Metabolism 2025-02-01
Series:Archives of Endocrinology and Metabolism
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972025000100900&lng=en&tlng=en
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author Alexandre Machado Silva de Oliveira
Viviane Motti
Jessica Casemiro
Pedro Resende Rende
Caio Leônidas Oliveira de Andrade
Luciene da Cruz Fernande
Helton Estrela Ramos
author_facet Alexandre Machado Silva de Oliveira
Viviane Motti
Jessica Casemiro
Pedro Resende Rende
Caio Leônidas Oliveira de Andrade
Luciene da Cruz Fernande
Helton Estrela Ramos
author_sort Alexandre Machado Silva de Oliveira
collection DOAJ
description ABSTRACT The aim of this study was to investigate the long-term audiological consequences of resistance to thyroid hormone (RTH) syndrome. The cochlea and inner ear express thyroid hormone receptor beta (THRB) in developmental stages. Hearing loss is frequent in subjects with RTH syndrome; however, the long-term impact of insufficient thyroid hormone action in the auditory system remains unknown. Subjects with RTH from the same family, carrying a THRB gene variant, underwent detailed clinical evaluation and serum biochemistry analysis. The genetic assessment involved sequencing of the THRB gene. Hearing loss assessment included (i) meatoscopy, (ii) audiometric tests using pure tone audiometry, (iii) middle ear evaluation by tympanometry, (iv) transient otoacoustic emissions (TOAE), and (v) computed tomography of the mastoids. Genetic sequencing confirmed the THRB gene alteration (p.M442T) in three family members. All affected subjects had clinical and laboratory RTH features. Notably, the older subject with RTH was affected by a bilateral sensorineural hearing loss pattern affected by high frequencies, and cochlear dysfunction was also presented by TOAE analysis, indicating pronounced hearing loss. Hearing loss represents a significant concern in subjects with RTH, emphasizing the need for continuous and comprehensive audiological assessments. These findings underscore the importance of lifelong monitoring, particularly to assess age-related progression of hearing impairment.
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spelling doaj-art-f273e7acb7f0429991f80d7de9962d422025-02-11T07:44:10ZengBrazilian Society of Endocrinology and MetabolismArchives of Endocrinology and Metabolism2359-42922025-02-0169110.20945/2359-4292-2024-0078Audiological alterations in resistance to thyroid hormone syndrome: emphasizing lifelong assessmentAlexandre Machado Silva de Oliveirahttps://orcid.org/0000-0002-8491-2351Viviane Mottihttps://orcid.org/0009-0002-2427-5300Jessica Casemirohttps://orcid.org/0000-0002-3119-769XPedro Resende Rendehttps://orcid.org/0000-0001-8999-8871Caio Leônidas Oliveira de Andradehttps://orcid.org/0000-0001-5103-6781Luciene da Cruz Fernandehttps://orcid.org/0000-0001-9744-1432Helton Estrela Ramoshttps://orcid.org/0000-0002-2900-2099ABSTRACT The aim of this study was to investigate the long-term audiological consequences of resistance to thyroid hormone (RTH) syndrome. The cochlea and inner ear express thyroid hormone receptor beta (THRB) in developmental stages. Hearing loss is frequent in subjects with RTH syndrome; however, the long-term impact of insufficient thyroid hormone action in the auditory system remains unknown. Subjects with RTH from the same family, carrying a THRB gene variant, underwent detailed clinical evaluation and serum biochemistry analysis. The genetic assessment involved sequencing of the THRB gene. Hearing loss assessment included (i) meatoscopy, (ii) audiometric tests using pure tone audiometry, (iii) middle ear evaluation by tympanometry, (iv) transient otoacoustic emissions (TOAE), and (v) computed tomography of the mastoids. Genetic sequencing confirmed the THRB gene alteration (p.M442T) in three family members. All affected subjects had clinical and laboratory RTH features. Notably, the older subject with RTH was affected by a bilateral sensorineural hearing loss pattern affected by high frequencies, and cochlear dysfunction was also presented by TOAE analysis, indicating pronounced hearing loss. Hearing loss represents a significant concern in subjects with RTH, emphasizing the need for continuous and comprehensive audiological assessments. These findings underscore the importance of lifelong monitoring, particularly to assess age-related progression of hearing impairment.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972025000100900&lng=en&tlng=en
spellingShingle Alexandre Machado Silva de Oliveira
Viviane Motti
Jessica Casemiro
Pedro Resende Rende
Caio Leônidas Oliveira de Andrade
Luciene da Cruz Fernande
Helton Estrela Ramos
Audiological alterations in resistance to thyroid hormone syndrome: emphasizing lifelong assessment
Archives of Endocrinology and Metabolism
title Audiological alterations in resistance to thyroid hormone syndrome: emphasizing lifelong assessment
title_full Audiological alterations in resistance to thyroid hormone syndrome: emphasizing lifelong assessment
title_fullStr Audiological alterations in resistance to thyroid hormone syndrome: emphasizing lifelong assessment
title_full_unstemmed Audiological alterations in resistance to thyroid hormone syndrome: emphasizing lifelong assessment
title_short Audiological alterations in resistance to thyroid hormone syndrome: emphasizing lifelong assessment
title_sort audiological alterations in resistance to thyroid hormone syndrome emphasizing lifelong assessment
url http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972025000100900&lng=en&tlng=en
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