R243W mutation in thyroid hormone resistance syndrome beta: A case report

Author: Jia Cheng Ong ^{1
,

2} ; W Mohd Hilmi W Omar ¹ ; Tuan Salwani Tuan Ismail ³ ; Krishna Chatterjee ⁴ ; Suhaimi Hussain ¹
Author Information

1. Department of Pediatrics, School of Medical Sciences, Universiti Sains Malaysia
2. Faculty of Medicine, Universiti Sultan Zainal Abidin, Terengganu Darul Iman, Malaysia
3. Department of Chemical Pathology, School of Medical Sciences, Universiti Sains Malaysia
4. Wellcome-MRC Institute of Metabolic Science, Metabolic Research Laboratories, University of Cambridge, Cambridge, United Kingdom
Publication Type:Case Reports
MeSH: Receptors, Thyroid Hormone; Thyroid Hormone Resistance Syndrome; Goiter
From: Journal of the ASEAN Federation of Endocrine Societies 2024;39(2):81-85
CountryPhilippines
Language:English
Abstract: A three-year-old female 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).
Full text:20241129144210060825pp.pdf