DNA-based diagnosis of thyroid hormone resistance syndrome: A novel THRB mutation associated with mild resistance to thyroid hormone

Thyroid hormones govern a wide range of metabolic processes in the body via thyroid hormone receptors (TR). We report a patient with mild resistance to thyroid hormone who was initially misdiagnosed and treated as having thyrotoxicosis. We used direct DNA sequencing of the THRB gene. We identified a...

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Bibliographic Details
Published in:Clinica chimica acta 2005-08, Vol.358 (1), p.55-59
Main Authors: Lam, Ching-Wan, On-Kei Chan, Angel, Tong, Sui-Fan, Shek, Chi-Chung, Cheung Tiu, Sau
Format: Article
Language:English
Subjects:
Adult
DNA Mutational Analysis - methods
Family Health
Humans
Male
Mutation
Mutation, Missense
Pedigree
Resistance to thyroid hormone
Thyroid hormone receptor beta
Thyroid Hormone Receptors beta - genetics
Thyroid Hormone Receptors beta - metabolism
Thyroid Hormone Resistance Syndrome - diagnosis
Thyroid Hormone Resistance Syndrome - genetics
Thyroid Hormones - genetics
Thyroid Hormones - metabolism
Time Factors
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Summary:Thyroid hormones govern a wide range of metabolic processes in the body via thyroid hormone receptors (TR). We report a patient with mild resistance to thyroid hormone who was initially misdiagnosed and treated as having thyrotoxicosis. We used direct DNA sequencing of the THRB gene. We identified a novel missense mutation, I276L, located in exon 8 of the gene. The mutation is located in cluster 3 of the ligand-binding domain, a protein domain associated with resistance to thyroid hormone. DNA-based diagnosis of thyroid hormone resistance syndrome is simple, reliable, and economical compared to traditional biochemical tests. Once the mutation is identified, targeted screening for the whole family can be performed and the unnecessary use of anti-thyroid drugs or thyroidectomy can be avoided.
ISSN:0009-8981
1873-3492
DOI:10.1016/j.cccn.2005.02.014