甲状腺激素抵抗综合征β中R243W突变1例报告

IF 0.6 Q4 ENDOCRINOLOGY & METABOLISM Journal of the ASEAN Federation of Endocrine Societies Pub Date : 2024-01-01 Epub Date: 2024-07-31 DOI:10.15605/jafes.039.02.04

Jia Cheng Ong, W Mohd Hilmi W Omar, Tuan Salwani Tuan Ismail, Krishna Chatterjee, Suhaimi Hussain

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引用次数: 0

摘要

一个三岁的女孩与历史复发扁桃体炎调查失败茁壮成长和整体发育迟缓。临床表现为三角形脸，低耳，间歇性心动过速。她有生长障碍，体重不到三百分位，而身高在正常范围内。其他全身检查无显著差异。本例患者游离T4 （FT4）升高伴促甲状腺激素（TSH）异常增高，临床怀疑为甲状腺激素抵抗综合征。DNA测序证实诊断为甲状腺激素受体β 1 (THRB1) R243W基因突变。

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R243W Mutation in Thyroid Hormone Resistance Syndrome Beta: A Case Report.

A three-year-old girl with a history of recurrent tonsillitis was investigated for failure to thrive and global developmental delay. Clinically, she had a triangular face with low-set ears and intermittent tachycardia. She had growth failure with her weight under the third centile while her height was within normal limits. Other systemic examinations were unremarkable. The presence of an elevated free T4 (FT4) with an inappropriately high thyroid stimulating hormone (TSH) in this patient raised the clinical suspicion of Thyroid Hormone Resistance Syndrome. DNA sequencing confirmed the diagnosis, which showed R243W gene mutation in Thyroid Hormone Receptor-Beta1 (THRB1).

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来源期刊

Journal of the ASEAN Federation of Endocrine Societies ENDOCRINOLOGY & METABOLISM-

CiteScore

1.20

自引率

0.00%

发文量

审稿时长

8 weeks

期刊介绍： The Journal of the ASEAN Federation of Endocrine Societies (JAFES) is an OPEN ACCESS, internationally peer-reviewed, English language, medical and health science journal that is published in print two times a year by the ASEAN Federation of Endocrine Societies. It shall serve as the endocrine window between the ASEAN region and the world, featuring original papers and publishing key findings from specialists and experts of endocrinology.