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Ann Pediatr Endocrinol Metab > Volume 10(1); 2005 > Article
A Case of Thyroid Hormone Resistance (RTH).
Ji Young Seo, In Suk Yoon, Jae Ho Yoo, Sung Yeon Ahn, Hye Lim Jeong, Choong Ho Shin, Sei Won Yang
1Department of Pediatrics, College of Medicine, Seoul National University, Seoul, Korea. growth@snu.ac.kr
2Department of Pediatrics, College of Medicine, Dong-A University, Busan, Korea.
3Department of Pediatrics, Kangwon National University, Chuncheon, Korea.
Thyroid hormone resistance (RTH) is a rare autosomal dominant disease characterized by reduced tissue sensitivity to thyroid hormone. Approximately 90% of subjects with RTH have mutation in the thyroid hormone receptor beta (TRbeta) gene. Approximately 10% of subjects diagnosed as having RTH do not carry mutation in the TRbeta gene. We report a 12-year-old male. The patient was euthyroid in spite of high total and free T4 and T3 concentrations, while TSH is slightly increased. TSH response to TRH stimulation was normal, and TSH values to TRH stimulation after T3 suppression revealed partial response. Sequence analysis of TRbeta gene showed no mutation. We report a case of RTH without mutations in the TRbeta gene.
Keywords: Resistance to thyroid hormone;Thyroid hormone receptor beta gene


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