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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Brazilian Society of Endocrinology and Metabolism
2025-02-01
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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. |
format | Article |
id | doaj-art-f273e7acb7f0429991f80d7de9962d42 |
institution | Kabale University |
issn | 2359-4292 |
language | English |
publishDate | 2025-02-01 |
publisher | Brazilian Society of Endocrinology and Metabolism |
record_format | Article |
series | Archives of Endocrinology and Metabolism |
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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