一名患有甲状腺激素抵抗综合征的15岁女孩中罕见的甲状腺激素受体β（THRβ）基因突变：病例报告
A rare thyroid hormone receptor beta (THRβ) gene mutation in a 15-year-old girl with thyroid hormone resistance syndrome: a case report.
作者信息
El Shafie Kawther, Ouhtit Allal, Al Farsi Yousuf, Al Sayegh Abeer, Al Shafaee Mohammed
机构信息
Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Sultanate of Oman.
出版信息
J Med Case Rep. 2014 Jan 6;8:12. doi: 10.1186/1752-1947-8-12.
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.
引言
甲状腺激素抵抗是一种罕见的综合征，尽管甲状腺激素水平升高，但促甲状腺激素水平并未受到抑制。据我们所知，我们病例报告中的患者是阿曼首例被确诊为此综合征的患者。
病例介绍
在一个阿曼家庭中，一名15岁的阿拉伯裔女孩被初步诊断为甲状腺激素抵抗。采集血样并分离出脱氧核糖核酸用于分子基因检测。结果显示甲状腺激素受体β基因存在罕见突变A268G。我们认为这种突变是我们患者发病的原因。
结论
我们首次在阿曼人群中报告了甲状腺激素受体β基因存在罕见突变。由于阿曼人群中近亲结婚率较高，我们旨在对患者的家庭成员进行筛查并提供遗传咨询。
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