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KMID : 0338420080230010045
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The Korean Journal of Internal Medicine
2008 Volume.23 No. 1 p.45 ~ p.48
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Resistance to Thyroid Hormone with Missense Mutation (V349M) in the Thyroid Hormone Receptor Beta Gene
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Kim Ji-Yon
Choi En-Suk
Lee Jong-Chan
Lee Kyung-Wook
Kim Yeo-Joo
Kim Sang-Jin
Lee Yong-Wha
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Abstract
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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 β (TRβ) 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 TRβ 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 α-subunit levels were 0.41 mIU/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 TRβ 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 TRβ gene.
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KEYWORD
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Thyroid hormone resistance syndrome, Thyroid hormone receptors beta, Mutation, Missense
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