R243W Mutation in Thyroid Hormone Resistance Syndrome Beta: A Case Report.
| Autor: | Ong JC; Department of Pediatrics, School of Medical Sciences, Universiti Sains Malaysia.; Faculty of Medicine, Universiti Sultan Zainal Abidin, Terengganu Darul Iman, Malaysia., W Omar WMH; Department of Pediatrics, School of Medical Sciences, Universiti Sains Malaysia., Tuan Ismail TS; Department of Chemical Pathology, School of Medical Sciences, Universiti Sains Malaysia., Chatterjee K; Wellcome-MRC Institute of Metabolic Science, Metabolic Research Laboratories, University of Cambridge, Cambridge, United Kingdom., Hussain S; Department of Pediatrics, School of Medical Sciences, Universiti Sains Malaysia. |
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| Jazyk: | angličtina |
| Zdroj: | Journal of the ASEAN Federation of Endocrine Societies [J ASEAN Fed Endocr Soc] 2024; Vol. 39 (2), pp. 81-85. Date of Electronic Publication: 2024 Jul 31. |
| DOI: | 10.15605/jafes.039.02.04 |
| Abstrakt: | 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). Competing Interests: The authors declared no conflict of interest. (© 2024 Journal of the ASEAN Federation of Endocrine Societies.) |
| Databáze: | MEDLINE |
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