Resistance to thyroid hormone with missense mutation (V349M) in the thyroid hormone receptor beta gene

Resistance to thyroid hormone (RTH) is a syndrome characterized by reduced sensitivity to the thyroid hormone. It is generally caused by mutations in the thyroid hormone receptor beta (TR beta) gene. On the basis of its clinical features, two different forms of this syndrome have been described: gen...

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Bibliographic Details
Published in:The Korean journal of internal medicine 2008, 23(1), , pp.45-48
Main Authors: Kim, Ji Yon, Choi, Eun Suk, Lee, Jong Chan, Lee, Kyung Uk, Kim, Yeo Joo, Kim, Sang Jin, Lee, Yong Wha
Format: Article
Language:English
Subjects:
Adult
Case Report
DNA Mutational Analysis
Female
Humans
Mutation, Missense
Thyroid Function Tests
Thyroid Hormone Receptors beta - genetics
Thyroid Hormone Resistance Syndrome - diagnosis
Thyroid Hormone Resistance Syndrome - genetics
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Summary:Resistance to thyroid hormone (RTH) is a syndrome characterized by reduced sensitivity to the thyroid hormone. It is generally caused by mutations in the thyroid hormone receptor beta (TR beta) gene. On the basis of its clinical features, two different forms of this syndrome have been described: generalized resistance and pituitary resistance. A total of 122 TR beta gene mutations have been identified thus far. A 38-year-old woman presented with intermittent palpitation. Thyroid function tests revealed elevated levels of free T4 and TSH. TSH a-subunit levels were 0.41 mlU/mL, and magnetic resonance images of the sellar region evidenced no abnormal findings. The TSH response to TRH stimulation was found to be normal. The sequence analysis of the TR beta gene verified a missense mutation in exon 11, and the observed amino acid alteration was a substitution of a valine for a methionine at codon 349. We report the first case of a woman with RTH, which was found to be caused by a missense mutation (V349M) in the TR beta gene.
ISSN:1226-3303
2005-6648
DOI:10.3904/kjim.2008.23.1.45