2008
DOI: 10.3904/kjim.2008.23.1.45
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Resistance to Thyroid Hormone with Missense Mutation (V349M) in the Thyroid Hormone Receptor Beta Gene

Abstract: 2Resistance 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 o… Show more

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Cited by 5 publications
(1 citation statement)
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“…The clinical presentation is variable, but common features include goiter, an absence of the classic thyrotoxic symptoms and metabolic consequences of elevated thyroid hormone levels, and a normal or exaggerated thyroid stimulating hormone (TSH) response to thyrotropin-releasing hormone (TRH). Until now over 1,000 cases have been identified around the world, and nine cases have been reported in Korea ( 2 - 9 ).…”
Section: Introductionmentioning
confidence: 99%
“…The clinical presentation is variable, but common features include goiter, an absence of the classic thyrotoxic symptoms and metabolic consequences of elevated thyroid hormone levels, and a normal or exaggerated thyroid stimulating hormone (TSH) response to thyrotropin-releasing hormone (TRH). Until now over 1,000 cases have been identified around the world, and nine cases have been reported in Korea ( 2 - 9 ).…”
Section: Introductionmentioning
confidence: 99%