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Pendred syndrome with hyperthyroidism

Objectives: Pendred syndrome is an autosomal recessive disorder characterized by the combination of sensorineural deafness and goiter and is caused by biallelic mutations in the SLC26A4/PDS gene. Thyroid function is generally reported as euthyroid or hypothyroid in this condition. We present a case...

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Autor principal: Kusano, Yoshiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Association of Rural Medicine 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7530597/
https://www.ncbi.nlm.nih.gov/pubmed/33033545
http://dx.doi.org/10.2185/jrm.2020-011
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author Kusano, Yoshiro
author_facet Kusano, Yoshiro
author_sort Kusano, Yoshiro
collection PubMed
description Objectives: Pendred syndrome is an autosomal recessive disorder characterized by the combination of sensorineural deafness and goiter and is caused by biallelic mutations in the SLC26A4/PDS gene. Thyroid function is generally reported as euthyroid or hypothyroid in this condition. We present a case of Pendred syndrome with hyperthyroidism. Patient: An 83-year-old woman with congenital deaf–mutism presented with complaints of nausea. She developed a large goiter and had hearing impairment. Her hearing level was 105 dB in both ears. She presented with hyperthyroidism and was treated with thiamazole. Results: She had a homozygous mutation in c.1579A>C:p.T527P of the SLC26A4 gene, confirming a diagnosis of Pendred syndrome. Conclusion: Pendred syndrome may develop into hyperthyroidism if the size of the goiter increases. Moreover, a homozygous mutation in c.1579A>C:p.T527P of the SLC26A4 gene, which was previously reported to be associated with nonsyndromic hearing loss with enlarged vestibular aqueduct, may also cause Pendred syndrome.
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spelling pubmed-75305972020-10-07 Pendred syndrome with hyperthyroidism Kusano, Yoshiro J Rural Med Case Report Objectives: Pendred syndrome is an autosomal recessive disorder characterized by the combination of sensorineural deafness and goiter and is caused by biallelic mutations in the SLC26A4/PDS gene. Thyroid function is generally reported as euthyroid or hypothyroid in this condition. We present a case of Pendred syndrome with hyperthyroidism. Patient: An 83-year-old woman with congenital deaf–mutism presented with complaints of nausea. She developed a large goiter and had hearing impairment. Her hearing level was 105 dB in both ears. She presented with hyperthyroidism and was treated with thiamazole. Results: She had a homozygous mutation in c.1579A>C:p.T527P of the SLC26A4 gene, confirming a diagnosis of Pendred syndrome. Conclusion: Pendred syndrome may develop into hyperthyroidism if the size of the goiter increases. Moreover, a homozygous mutation in c.1579A>C:p.T527P of the SLC26A4 gene, which was previously reported to be associated with nonsyndromic hearing loss with enlarged vestibular aqueduct, may also cause Pendred syndrome. The Japanese Association of Rural Medicine 2020-10-01 2020-10 /pmc/articles/PMC7530597/ /pubmed/33033545 http://dx.doi.org/10.2185/jrm.2020-011 Text en ©2020 The Japanese Association of Rural Medicine http://creativecommons.org/licenses/by-nc-nd/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial No Derivatives (by-nc-nd) License.
spellingShingle Case Report
Kusano, Yoshiro
Pendred syndrome with hyperthyroidism
title Pendred syndrome with hyperthyroidism
title_full Pendred syndrome with hyperthyroidism
title_fullStr Pendred syndrome with hyperthyroidism
title_full_unstemmed Pendred syndrome with hyperthyroidism
title_short Pendred syndrome with hyperthyroidism
title_sort pendred syndrome with hyperthyroidism
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7530597/
https://www.ncbi.nlm.nih.gov/pubmed/33033545
http://dx.doi.org/10.2185/jrm.2020-011
work_keys_str_mv AT kusanoyoshiro pendredsyndromewithhyperthyroidism