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

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

doi:10.15605/jafes.039.02.04

Authors

Jia Cheng Ong Universiti Sains Malaysia https://orcid.org/0009-0007-3346-0950
W Mohd Hilmi W Omar Universiti Sains Malaysia https://orcid.org/0009-0005-6229-5013
Tuan Salwani Tuan Ismail Universiti Sains Malaysia
Krishna Chatterjee University of Cambridge
Suhaimi Hussain Universiti Sains Malaysia https://orcid.org/0000-0002-7164-3076

DOI:

https://doi.org/10.15605/jafes.039.02.04

Keywords:

thyroid hormone receptor, thyroid hormone resistance, goiter

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).

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Author Biographies

Jia Cheng Ong, Universiti Sains Malaysia

Postgraduate student

Department of Pediatrics, School of Medical Sciences, Universiti Sains Malaysia
Faculty of Medicine, Universiti Sultan Zainal Abidin, Terengganu, Malaysia

W Mohd Hilmi W Omar, Universiti Sains Malaysia

Postgraduate student, Department of Pediatrics, School of Medical Sciences

Tuan Salwani Tuan Ismail, Universiti Sains Malaysia

Chemical Pathologist, Department of Chemical Pathology, School of Medical Sciences

Krishna Chatterjee, University of Cambridge

Professor of Endocrinology

Wellcome-MRC Institute of Metabolic Science, Metabolic Research Laboratories, University of Cambridge, Cambridge, United Kingdom

Suhaimi Hussain, Universiti Sains Malaysia

Paediatric Endocrinologist, Department of Pediatrics, School of Medical Sciences, Universiti Sains Malaysia

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