A Case of Resistance Syndrome to Thyroid Hormone Associated with Mutation (G345D) in the Thyroid Hormone Receptor Beta Gene
갑상선호르몬 수용체 베타 유전자의 돌연변이(G345D)가 확인된 갑상선호르몬 저항성 증후군 1예
박, 태진; 강, 준구; 서, 경우; 김, 혜진; 정, 윤석; 이, 관우; 정, 선용; 김, 현주; 김, 대중
Journal of Korean Endocrine Society, 22(4):277-281, 2007
Journal of Korean Endocrine Society; 대한내분비학회지
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.
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