KMID : 1036920140190040229
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Annals of Pediatric Endocrinology & Metabolism 2014 Volume.19 No. 4 p.229 ~ p.231
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Resistance to thyroid hormone due to a novel mutation of thyroid hormone receptor beta gene
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Lee Jae-Hee
Kim Eun-Young
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Abstract
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Resistance to thyroid hormone (RTH) is a rare inherited syndrome characterized by diminished response of the target tissue to thyroid hormone caused, in the majority of cases, by mutation of the thyroid hormone receptor beta (THR¥â) gene. Despite elevated serum levels of free thyroid hormones and thyroid stimulating hormone (TSH), the paucity of symptoms and signs of thyroid dysfunction suggest RTH. We report the case of a 9-year-old girl with goiter. Her thyroid function tests showed increased serum levels of free thyroxine, triiodothyronine, and TSH. The genetic analysis of THR¥â confirmed a novel mutation in exon 9; this was a heterozygous C-to-T change in the 327th codon, substituting threonine for isoleucine (T327I).
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KEYWORD
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Thyroid hormone resistance syndrome, Mutation, Thyroid hormone receptors beta
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