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Park, Kang, Seo, Kim, Chung, Lee, Jeong, Kim, and Kim: A Case of Resistance Syndrome to Thyroid Hormone Associated with Mutation (G345D) in the Thyroid Hormone Receptor Beta Gene
Case Report
Journal of Korean Endocrine Society

Journal of Korean Endocrine Society 2007; 22(4): 277-281.

Published online: 20 August 2007

DOI: https://doi.org/10.3803/jkes.2007.22.4.277

A Case of Resistance Syndrome to Thyroid Hormone Associated with Mutation (G345D) in the Thyroid Hormone Receptor Beta Gene

Tae Jin Park, Joon Koo Kang, Kyoung Woo Seo, Hae Jin Kim, Yoon-Sok Chung, Kwan Woo Lee, Seon-Yong Jeong1, Hyon Ju Kim1, Dae Jung Kim

Department of Endocrinology and Metabolism, Ajou University School of Medicine, Korea.

1Department of Medical Genetics, Ajou University School of Medicine, Korea.

Received 15 January 2007       Accepted 23 May 2007

Copyright © 2007 Korean Endocrine Society

Abstract

Resistance syndrome to thyroid hormone (RTH) is a rare autosomal dominant disease that is characterized by decreased tissue responsiveness to thyroid hormone, and it is mainly due to mutations of the thyroid hormone receptor β (THRB) gene. We report here on a 36-years old male who had mild thyroid goiter and general weakness. The thyroid function test showed elevated levels of total T3 and free T4. The levels of TSH and the free α subunit were in normal ranges. Mutation analysis of the THRB gene revealed the missense mutation G345D. We report here on the clinical features and THRB gene mutation analysis of a case of RTH.

Keywords: Hyperthyroidism, Mutation, Syndrome of resistance to thyroid hormone, Thyroid hormone receptor beta gene

Figures and Tables

Fig. 1
Thyroid scintigraphy with pertechnetate shows cold nodules in both lobes of thyroid and diffuse enlarged both lobes with homogenously increased trapping.
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Fig. 2
Sellar MRI shows normal size and normal signal intensity of pituitary gland, intact optic chiasm and cavernous sinus.
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Fig. 3
Sequencing analysis of the thyroid hormone receptor beta gene in a Korean patient with syndrome of resistance to thyroid hormone; sequencing analysis confirmed a heterozygous missense mutation in exon 9 and the amino acid alteration was substitution of a glycine (GGT) for a aspartic acid (GAT) at codon 345.
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Table 1
Summary of 3 cases with resistance syndrome to thyroid hormone in Korea
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Table 2
Primer sequences used for amplification of the THRB gene
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Table 3
Progression of thyroid function test
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