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R243W Mutation in Thyroid Hormone Resistance Syndrome Beta: A Case Report
Jia Cheng Ong1,2, W Mohd Hilmi W Omar1, Tuan Salwani Tuan Ismail3
1Department of Pediatrics, School of Medical Sciences, Universiti Sains Malaysia.
Journal of the ASEAN Federation of Endocrine Societies
|December 2, 2024
Summary
Thyroid Hormone Resistance Syndrome was diagnosed in a child with developmental delay and growth failure. Genetic testing revealed a specific mutation in the Thyroid Hormone Receptor-Beta1 gene, confirming the rare condition.
Area of Science:
- Pediatric Endocrinology
- Genetics
- Developmental Pediatrics
Background:
- Thyroid Hormone Resistance Syndrome (THRS) is a rare genetic disorder.
- Patients present with variable symptoms, including developmental delay and growth issues.
- Clinical suspicion arises from specific thyroid hormone level patterns.
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