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

Journal of Medical Case Reports

Mohammed Al Shafaee²  Abeer Al Sayegh¹  Yousuf Al Farsi²  Allal Ouhtit¹  Kawther El Shafie² 

[1] Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Sultanate of Oman;Department of Family Medicine and Public Health, Sultan Qaboos University, PO Box 35, Postcode 123 Muscat, Sultanate Of Oman

关键词: Thyroid hormone resistance;    THRβ;    Oman;    Consanguinity;    Autosomal dominant;   

Others  :  822937
DOI  :  10.1186/1752-1947-8-12

 received in 2013-07-15, accepted in 2013-11-11,  发布年份 2014

【 摘 要 】

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.

【 授权许可】

   
2014 El Shafie et al.; licensee BioMed Central Ltd.

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