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Resistance to thyroid hormone due to a novel mutation in the thyroid beta receptor (THRβ) gene coexisting with autoimmune thyroid disease—A case report

Resistance to thyroid hormone (RTH) is a syndrome characterized by impaired responsiveness of target tissues to thyroid hormones. The relationship between RTHβ and thyroid autoimmunity has been under research. In this study, we demonstrate a case report of a woman with a novel mutation in THRβ gene...

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Autores principales: Skowrońska-Jóźwiak, Elżbieta, Gach, Agnieszka, Cyniak-Magierska, Anna, Nykel, Anna, Jurkowska, Monika, Lewiński, Andrzej
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10111252/
https://www.ncbi.nlm.nih.gov/pubmed/37082196
http://dx.doi.org/10.3389/fgene.2023.1051042
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author Skowrońska-Jóźwiak, Elżbieta
Gach, Agnieszka
Cyniak-Magierska, Anna
Nykel, Anna
Jurkowska, Monika
Lewiński, Andrzej
author_facet Skowrońska-Jóźwiak, Elżbieta
Gach, Agnieszka
Cyniak-Magierska, Anna
Nykel, Anna
Jurkowska, Monika
Lewiński, Andrzej
author_sort Skowrońska-Jóźwiak, Elżbieta
collection PubMed
description Resistance to thyroid hormone (RTH) is a syndrome characterized by impaired responsiveness of target tissues to thyroid hormones. The relationship between RTHβ and thyroid autoimmunity has been under research. In this study, we demonstrate a case report of a woman with a novel mutation in THRβ gene coexisting with autoimmune thyroid disease (AITD). The 36-year-old woman has been treated since childhood for a thyroid disease. Based on high levels of thyroid hormones (THs) and elevated concentrations of thyroperoxidase and thyroglobulin antibodies (TPOAb and TgAb, respectively), she received unnecessary long-term treatment with methimazole and finally underwent subtotal thyroidectomy. After the surgery, her TSH level remained significantly elevated, despite the treatment with 150 + 15 µg of thyroxine and triiodothyronine. A sequence analysis of the THRβ gene revealed a novel dinucleotide substitution affecting codon 453, resulting in the replacement of the normal proline with an asparagine (c.1357_1358delinsAA, p.(Pro453Asn)). The mutation has not been described in the literature yet; however, THRβ codon 453 represents a mutational hot spot, frequently altered in the TH receptor ß gene. After establishing the diagnosis of RTH, the patient was treated with 300 µg of thyroxine, which showed clinical improvement and normalization of TSH. The coexistence of RTHβ and AITD may additionally impede establishment of a proper diagnosis, leading to unnecessary therapy and delayed correct treatment. The presented case encourages a closer cooperation between clinical endocrinologists and geneticists.
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spelling pubmed-101112522023-04-19 Resistance to thyroid hormone due to a novel mutation in the thyroid beta receptor (THRβ) gene coexisting with autoimmune thyroid disease—A case report Skowrońska-Jóźwiak, Elżbieta Gach, Agnieszka Cyniak-Magierska, Anna Nykel, Anna Jurkowska, Monika Lewiński, Andrzej Front Genet Genetics Resistance to thyroid hormone (RTH) is a syndrome characterized by impaired responsiveness of target tissues to thyroid hormones. The relationship between RTHβ and thyroid autoimmunity has been under research. In this study, we demonstrate a case report of a woman with a novel mutation in THRβ gene coexisting with autoimmune thyroid disease (AITD). The 36-year-old woman has been treated since childhood for a thyroid disease. Based on high levels of thyroid hormones (THs) and elevated concentrations of thyroperoxidase and thyroglobulin antibodies (TPOAb and TgAb, respectively), she received unnecessary long-term treatment with methimazole and finally underwent subtotal thyroidectomy. After the surgery, her TSH level remained significantly elevated, despite the treatment with 150 + 15 µg of thyroxine and triiodothyronine. A sequence analysis of the THRβ gene revealed a novel dinucleotide substitution affecting codon 453, resulting in the replacement of the normal proline with an asparagine (c.1357_1358delinsAA, p.(Pro453Asn)). The mutation has not been described in the literature yet; however, THRβ codon 453 represents a mutational hot spot, frequently altered in the TH receptor ß gene. After establishing the diagnosis of RTH, the patient was treated with 300 µg of thyroxine, which showed clinical improvement and normalization of TSH. The coexistence of RTHβ and AITD may additionally impede establishment of a proper diagnosis, leading to unnecessary therapy and delayed correct treatment. The presented case encourages a closer cooperation between clinical endocrinologists and geneticists. Frontiers Media S.A. 2023-04-04 /pmc/articles/PMC10111252/ /pubmed/37082196 http://dx.doi.org/10.3389/fgene.2023.1051042 Text en Copyright © 2023 Skowrońska-Jóźwiak, Gach, Cyniak-Magierska, Nykel, Jurkowska and Lewiński. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Genetics
Skowrońska-Jóźwiak, Elżbieta
Gach, Agnieszka
Cyniak-Magierska, Anna
Nykel, Anna
Jurkowska, Monika
Lewiński, Andrzej
Resistance to thyroid hormone due to a novel mutation in the thyroid beta receptor (THRβ) gene coexisting with autoimmune thyroid disease—A case report
title Resistance to thyroid hormone due to a novel mutation in the thyroid beta receptor (THRβ) gene coexisting with autoimmune thyroid disease—A case report
title_full Resistance to thyroid hormone due to a novel mutation in the thyroid beta receptor (THRβ) gene coexisting with autoimmune thyroid disease—A case report
title_fullStr Resistance to thyroid hormone due to a novel mutation in the thyroid beta receptor (THRβ) gene coexisting with autoimmune thyroid disease—A case report
title_full_unstemmed Resistance to thyroid hormone due to a novel mutation in the thyroid beta receptor (THRβ) gene coexisting with autoimmune thyroid disease—A case report
title_short Resistance to thyroid hormone due to a novel mutation in the thyroid beta receptor (THRβ) gene coexisting with autoimmune thyroid disease—A case report
title_sort resistance to thyroid hormone due to a novel mutation in the thyroid beta receptor (thrβ) gene coexisting with autoimmune thyroid disease—a case report
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10111252/
https://www.ncbi.nlm.nih.gov/pubmed/37082196
http://dx.doi.org/10.3389/fgene.2023.1051042
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