Endocrinol Metab > Volume 22(4); 2007 > Article
Journal of Korean Endocrine Society 2007;22(4):277-281.
DOI: https://doi.org/10.3803/jkes.2007.22.4.277    Published online August 1, 2007.
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 Jeong, Hyon Ju Kim, Dae Jung Kim
1Department of Endocrinology and Metabolism, Ajou University School of Medicine.
2Department of Medical Genetics, Ajou University School of Medicine.
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 beta (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 alpha 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.
Key Words: Hyperthyroidism, Mutation, Syndrome of resistance to thyroid hormone, Thyroid hormone receptor beta gene

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