Update on resistance to thyroid hormone syndromeβ

Resistance to thyroid hormone syndrome (RTH) is an autosomal dominant or recessive genetic disease caused by mutation of either the thyroid hormone receptorβ (THR-β) gene or the thyroid hormone receptorα (THR-α) gene. RTH due to mutations of the THR-β gene (hereafter, RTH-β) is characterized by a de...

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Autores principales: Sun, Hongping, Cao, Lin, Zheng, Rendong, Xie, Shaofeng, Liu, Chao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7656732/
https://www.ncbi.nlm.nih.gov/pubmed/33176840
http://dx.doi.org/10.1186/s13052-020-00929-x
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author Sun, Hongping
Cao, Lin
Zheng, Rendong
Xie, Shaofeng
Liu, Chao
author_facet Sun, Hongping
Cao, Lin
Zheng, Rendong
Xie, Shaofeng
Liu, Chao
author_sort Sun, Hongping
collection PubMed
description Resistance to thyroid hormone syndrome (RTH) is an autosomal dominant or recessive genetic disease caused by mutation of either the thyroid hormone receptorβ (THR-β) gene or the thyroid hormone receptorα (THR-α) gene. RTH due to mutations of the THR-β gene (hereafter, RTH-β) is characterized by a decreased response of the target tissue to thyroid hormone, increased serum levels of free triiodothyronine (FT3) and/or free thyroxine (FT4), and inappropriate secretion of thyroid-stimulating hormone (TSH, normal or elevated). Clinical manifestations of RTH-β vary from hyperthyroidism to hypothyroidism or simple goiter, and RTH-β is often misdiagnosed clinically. The present review was prepared for the purpose of expanding knowledge of RTH-β in order to reduce the rate of misdiagnosis.
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spelling pubmed-76567322020-11-13 Update on resistance to thyroid hormone syndromeβ Sun, Hongping Cao, Lin Zheng, Rendong Xie, Shaofeng Liu, Chao Ital J Pediatr Review Resistance to thyroid hormone syndrome (RTH) is an autosomal dominant or recessive genetic disease caused by mutation of either the thyroid hormone receptorβ (THR-β) gene or the thyroid hormone receptorα (THR-α) gene. RTH due to mutations of the THR-β gene (hereafter, RTH-β) is characterized by a decreased response of the target tissue to thyroid hormone, increased serum levels of free triiodothyronine (FT3) and/or free thyroxine (FT4), and inappropriate secretion of thyroid-stimulating hormone (TSH, normal or elevated). Clinical manifestations of RTH-β vary from hyperthyroidism to hypothyroidism or simple goiter, and RTH-β is often misdiagnosed clinically. The present review was prepared for the purpose of expanding knowledge of RTH-β in order to reduce the rate of misdiagnosis. BioMed Central 2020-11-11 /pmc/articles/PMC7656732/ /pubmed/33176840 http://dx.doi.org/10.1186/s13052-020-00929-x Text en © The Author(s) 2020 Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Review
Sun, Hongping
Cao, Lin
Zheng, Rendong
Xie, Shaofeng
Liu, Chao
Update on resistance to thyroid hormone syndromeβ
title Update on resistance to thyroid hormone syndromeβ
title_full Update on resistance to thyroid hormone syndromeβ
title_fullStr Update on resistance to thyroid hormone syndromeβ
title_full_unstemmed Update on resistance to thyroid hormone syndromeβ
title_short Update on resistance to thyroid hormone syndromeβ
title_sort update on resistance to thyroid hormone syndromeβ
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7656732/
https://www.ncbi.nlm.nih.gov/pubmed/33176840
http://dx.doi.org/10.1186/s13052-020-00929-x
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