Ong Jia Cheng, W Omar W Mohd Hilmi, Tuan Ismail Tuan Salwani, Chatterjee Krishna, Hussain Suhaimi
Department of Pediatrics, School of Medical Sciences, Universiti Sains Malaysia.
Faculty of Medicine, Universiti Sultan Zainal Abidin, Terengganu Darul Iman, Malaysia.
J ASEAN Fed Endocr Soc. 2024;39(2):81-85. doi: 10.15605/jafes.039.02.04. Epub 2024 Jul 31.
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).
一名有复发性扁桃体炎病史的三岁女孩因生长发育迟缓及全面发育迟缓接受检查。临床上，她面部呈三角形，耳朵低位，并有间歇性心动过速。她存在生长发育不良，体重低于第三百分位，而身高在正常范围内。其他系统检查无异常。该患者游离甲状腺素（FT4）升高，同时促甲状腺激素（TSH）异常升高，这引起了对甲状腺激素抵抗综合征的临床怀疑。DNA测序确诊了该病，结果显示甲状腺激素受体β1（THRB1）存在R243W基因突变。
