Thyroid hormone resistance syndrome caused by a novel mutation in the thyroid hormone receptor‐beta gene ( THRB , GLU457LYS) treated with methimazole

A 15‐year‐old girl presented with hyperactivity and behavior disorders. She had tachycardia and no goiter. Thyroid hormones were high and TSH normal. A novel mutation GLU457LYS in THRB gene was observed. Methimazole and propranolol improved clinical symptoms but increased TSH level.

Detalles Bibliográficos
Autores principales: Rezgani, Imen, Chihaoui, Melika, Oueslati, Ibtissem, Chaker, Fatma, Nagi, Sonia, Yazidi, Meriem
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9638043/
https://www.ncbi.nlm.nih.gov/pubmed/36381023
http://dx.doi.org/10.1002/ccr3.6543
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author Rezgani, Imen
Chihaoui, Melika
Oueslati, Ibtissem
Chaker, Fatma
Nagi, Sonia
Yazidi, Meriem
author_facet Rezgani, Imen
Chihaoui, Melika
Oueslati, Ibtissem
Chaker, Fatma
Nagi, Sonia
Yazidi, Meriem
author_sort Rezgani, Imen
collection PubMed
description A 15‐year‐old girl presented with hyperactivity and behavior disorders. She had tachycardia and no goiter. Thyroid hormones were high and TSH normal. A novel mutation GLU457LYS in THRB gene was observed. Methimazole and propranolol improved clinical symptoms but increased TSH level.
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spelling pubmed-96380432022-11-14 Thyroid hormone resistance syndrome caused by a novel mutation in the thyroid hormone receptor‐beta gene ( THRB , GLU457LYS) treated with methimazole Rezgani, Imen Chihaoui, Melika Oueslati, Ibtissem Chaker, Fatma Nagi, Sonia Yazidi, Meriem Clin Case Rep Case Report A 15‐year‐old girl presented with hyperactivity and behavior disorders. She had tachycardia and no goiter. Thyroid hormones were high and TSH normal. A novel mutation GLU457LYS in THRB gene was observed. Methimazole and propranolol improved clinical symptoms but increased TSH level. John Wiley and Sons Inc. 2022-11-06 /pmc/articles/PMC9638043/ /pubmed/36381023 http://dx.doi.org/10.1002/ccr3.6543 Text en © 2022 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Report
Rezgani, Imen
Chihaoui, Melika
Oueslati, Ibtissem
Chaker, Fatma
Nagi, Sonia
Yazidi, Meriem
Thyroid hormone resistance syndrome caused by a novel mutation in the thyroid hormone receptor‐beta gene ( THRB , GLU457LYS) treated with methimazole
title Thyroid hormone resistance syndrome caused by a novel mutation in the thyroid hormone receptor‐beta gene ( THRB , GLU457LYS) treated with methimazole
title_full Thyroid hormone resistance syndrome caused by a novel mutation in the thyroid hormone receptor‐beta gene ( THRB , GLU457LYS) treated with methimazole
title_fullStr Thyroid hormone resistance syndrome caused by a novel mutation in the thyroid hormone receptor‐beta gene ( THRB , GLU457LYS) treated with methimazole
title_full_unstemmed Thyroid hormone resistance syndrome caused by a novel mutation in the thyroid hormone receptor‐beta gene ( THRB , GLU457LYS) treated with methimazole
title_short Thyroid hormone resistance syndrome caused by a novel mutation in the thyroid hormone receptor‐beta gene ( THRB , GLU457LYS) treated with methimazole
title_sort thyroid hormone resistance syndrome caused by a novel mutation in the thyroid hormone receptor‐beta gene ( thrb , glu457lys) treated with methimazole
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9638043/
https://www.ncbi.nlm.nih.gov/pubmed/36381023
http://dx.doi.org/10.1002/ccr3.6543
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