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

A case report

Kawther El Shafie, Allal Ouhtit, Yousuf Al Farsi, Abeer Al Sayegh, Mohammed Al Shafaee

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

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.

Original languageEnglish
Article number12
JournalJournal of Medical Case Reports
Volume8
Issue number1
DOIs
Publication statusPublished - Jan 6 2014

Fingerprint

Thyroid Hormone Receptors beta
Thyroid Hormone Resistance Syndrome
Mutation
Oman
Genes
Consanguinity
Genetic Counseling
Genetic Testing
Thyrotropin
Thyroid Hormones
Population
Molecular Biology
Pathology
DNA

Keywords

  • Autosomal dominant
  • Consanguinity
  • Oman
  • THRβ
  • Thyroid hormone resistance

ASJC Scopus subject areas

  • Medicine(all)

Cite this

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.

In: Journal of Medical Case Reports, Vol. 8, No. 1, 12, 06.01.2014.

Research output: Contribution to journalArticle

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AB - 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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