Annals of Pediatric Endocrinology & Metabolism  2014;19(4):229-231

doi:10.6065/apem.2014.19.4.229

Resistance to thyroid hormone due to a novel mutation of thyroid hormone receptor beta gene.

Jae Hee LEE 1 ; Eun Young KIM

Affiliations

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Keywords

Thyroid hormone resistance syndrome; Mutation; Thyroid hormone receptors beta

Country

Republic of Korea

Language

English

Abstract

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 (THRbeta) 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 THRbeta confirmed a novel mutation in exon 9; this was a heterozygous C-to-T change in the 327th codon, substituting threonine for isoleucine (T327I).