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A rare thyroid hormone receptor beta (THRβ) gene mutation in a 15-year-old girl with thyroid hormone resistance syndrome: a case report

INTRODUCTION: Resistance to thyroid hormone is a rare syndrome, where although the level of thyroid hormone is elevated, the level of thyroid stimulating hormone is not suppressed. The patient in our case report is, to the best of our knowledge, the first with this syndrome identified in Oman. CASE...

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Autores principales: El Shafie, Kawther, Ouhtit, Allal, Al Farsi, Yousuf, Al Sayegh, Abeer, Al Shafaee, Mohammed
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3901553/
https://www.ncbi.nlm.nih.gov/pubmed/24393243
http://dx.doi.org/10.1186/1752-1947-8-12
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author El Shafie, Kawther
Ouhtit, Allal
Al Farsi, Yousuf
Al Sayegh, Abeer
Al Shafaee, Mohammed
author_facet El Shafie, Kawther
Ouhtit, Allal
Al Farsi, Yousuf
Al Sayegh, Abeer
Al Shafaee, Mohammed
author_sort El Shafie, Kawther
collection PubMed
description INTRODUCTION: Resistance to thyroid hormone is a rare syndrome, where although the level of thyroid hormone is elevated, the level of thyroid stimulating hormone is not suppressed. The patient in our case report is, to the best of our knowledge, the first with this syndrome identified in Oman. CASE PRESENTATION: In one Omani family, a 15-year-old girl of Arabian origin was pre-diagnosed with resistance to thyroid hormone. Blood sample was collected and deoxyribonucleic acid was isolated for molecular genetic testing. The results revealed a rare mutation A268G in the gene for thyroid hormone receptor beta. We believe that this mutation is the cause of the pathology in our patient. CONCLUSION: We report the presence of a rare mutation in the thyroid hormone receptor beta gene for the first time in the Omani population. Due to the rates of consanguinity being high among the Omani population, we are aiming to screen our patient’s family members and provide genetic counseling.
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spelling pubmed-39015532014-01-25 A rare thyroid hormone receptor beta (THRβ) gene mutation in a 15-year-old girl with thyroid hormone resistance syndrome: a case report El Shafie, Kawther Ouhtit, Allal Al Farsi, Yousuf Al Sayegh, Abeer Al Shafaee, Mohammed J Med Case Rep Case Report INTRODUCTION: Resistance to thyroid hormone is a rare syndrome, where although the level of thyroid hormone is elevated, the level of thyroid stimulating hormone is not suppressed. The patient in our case report is, to the best of our knowledge, the first with this syndrome identified in Oman. CASE PRESENTATION: In one Omani family, a 15-year-old girl of Arabian origin was pre-diagnosed with resistance to thyroid hormone. Blood sample was collected and deoxyribonucleic acid was isolated for molecular genetic testing. The results revealed a rare mutation A268G in the gene for thyroid hormone receptor beta. We believe that this mutation is the cause of the pathology in our patient. CONCLUSION: We report the presence of a rare mutation in the thyroid hormone receptor beta gene for the first time in the Omani population. Due to the rates of consanguinity being high among the Omani population, we are aiming to screen our patient’s family members and provide genetic counseling. BioMed Central 2014-01-06 /pmc/articles/PMC3901553/ /pubmed/24393243 http://dx.doi.org/10.1186/1752-1947-8-12 Text en Copyright © 2014 El Shafie 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
El Shafie, Kawther
Ouhtit, Allal
Al Farsi, Yousuf
Al Sayegh, Abeer
Al Shafaee, Mohammed
A rare thyroid hormone receptor beta (THRβ) gene mutation in a 15-year-old girl with thyroid hormone resistance syndrome: a case report
title A rare thyroid hormone receptor beta (THRβ) gene mutation in a 15-year-old girl with thyroid hormone resistance syndrome: a case report
title_full A rare thyroid hormone receptor beta (THRβ) gene mutation in a 15-year-old girl with thyroid hormone resistance syndrome: a case report
title_fullStr A rare thyroid hormone receptor beta (THRβ) gene mutation in a 15-year-old girl with thyroid hormone resistance syndrome: a case report
title_full_unstemmed A rare thyroid hormone receptor beta (THRβ) gene mutation in a 15-year-old girl with thyroid hormone resistance syndrome: a case report
title_short A rare thyroid hormone receptor beta (THRβ) gene mutation in a 15-year-old girl with thyroid hormone resistance syndrome: a case report
title_sort rare thyroid hormone receptor beta (thrβ) gene mutation in a 15-year-old girl with thyroid hormone resistance syndrome: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3901553/
https://www.ncbi.nlm.nih.gov/pubmed/24393243
http://dx.doi.org/10.1186/1752-1947-8-12
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