Resistance to thyroid hormone associated with a novel mutation of the thyroid β receptor gene in a four-year-old female

Resistance to thyroid hormone (RTH) is a rare syndrome of reduced responsiveness of target tissues to thyroid hormone and is caused mutation in the thyroid β receptor gene. We report a novel mutation, E445X, causing RTH in a 4-year old girl. The patient exhibited extreme signs and symptoms of RTH at...

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Detalles Bibliográficos
Autores principales: Canadas, Karina T, Rivkees, Scott A, Udelsman, Robert, Breuer, Christopher K
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3159137/
https://www.ncbi.nlm.nih.gov/pubmed/21860630
http://dx.doi.org/10.1186/1687-9856-2011-3
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author Canadas, Karina T
Rivkees, Scott A
Udelsman, Robert
Breuer, Christopher K
author_facet Canadas, Karina T
Rivkees, Scott A
Udelsman, Robert
Breuer, Christopher K
author_sort Canadas, Karina T
collection PubMed
description Resistance to thyroid hormone (RTH) is a rare syndrome of reduced responsiveness of target tissues to thyroid hormone and is caused mutation in the thyroid β receptor gene. We report a novel mutation, E445X, causing RTH in a 4-year old girl. The patient exhibited extreme signs and symptoms of RTH at an early age, and had a large compressive goiter. Following total extracapsular thyroidectomy, upper airway compression was relieved and symptoms of hyperthyroidism improved. This case appears to be the youngest child recorded to have undergone total thyroidectomy for RTH. Post-operative TSH elevations were managed with every-other-day triiodothyronine therapy.
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spelling pubmed-31591372011-08-23 Resistance to thyroid hormone associated with a novel mutation of the thyroid β receptor gene in a four-year-old female Canadas, Karina T Rivkees, Scott A Udelsman, Robert Breuer, Christopher K Int J Pediatr Endocrinol Case Report Resistance to thyroid hormone (RTH) is a rare syndrome of reduced responsiveness of target tissues to thyroid hormone and is caused mutation in the thyroid β receptor gene. We report a novel mutation, E445X, causing RTH in a 4-year old girl. The patient exhibited extreme signs and symptoms of RTH at an early age, and had a large compressive goiter. Following total extracapsular thyroidectomy, upper airway compression was relieved and symptoms of hyperthyroidism improved. This case appears to be the youngest child recorded to have undergone total thyroidectomy for RTH. Post-operative TSH elevations were managed with every-other-day triiodothyronine therapy. BioMed Central 2011 2011-06-21 /pmc/articles/PMC3159137/ /pubmed/21860630 http://dx.doi.org/10.1186/1687-9856-2011-3 Text en Copyright ©2011 Canadas et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Canadas, Karina T
Rivkees, Scott A
Udelsman, Robert
Breuer, Christopher K
Resistance to thyroid hormone associated with a novel mutation of the thyroid β receptor gene in a four-year-old female
title Resistance to thyroid hormone associated with a novel mutation of the thyroid β receptor gene in a four-year-old female
title_full Resistance to thyroid hormone associated with a novel mutation of the thyroid β receptor gene in a four-year-old female
title_fullStr Resistance to thyroid hormone associated with a novel mutation of the thyroid β receptor gene in a four-year-old female
title_full_unstemmed Resistance to thyroid hormone associated with a novel mutation of the thyroid β receptor gene in a four-year-old female
title_short Resistance to thyroid hormone associated with a novel mutation of the thyroid β receptor gene in a four-year-old female
title_sort resistance to thyroid hormone associated with a novel mutation of the thyroid β receptor gene in a four-year-old female
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3159137/
https://www.ncbi.nlm.nih.gov/pubmed/21860630
http://dx.doi.org/10.1186/1687-9856-2011-3
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AT udelsmanrobert resistancetothyroidhormoneassociatedwithanovelmutationofthethyroidbreceptorgeneinafouryearoldfemale
AT breuerchristopherk resistancetothyroidhormoneassociatedwithanovelmutationofthethyroidbreceptorgeneinafouryearoldfemale

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