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  • Title: A mutation in thyroid hormone receptor beta causing "resistance to thyroid hormone" in a neonate.
    Author: Cömert S, Akin Y, Vitrinel A, Telatar B, Ağikuru T, Gözü H, Bircan R, Turan S.
    Journal: Minerva Pediatr; 2010 Aug; 62(4):419-22. PubMed ID: 20940675.
    Abstract:
    Resistance to thyroid hormone (RTH) is an inherited syndrome characterized by reduced tissue responsiveness to thyroid hormones. The main defects are due to mutations in thyroid hormone receptor beta (TRbeta). A male, term neonate was admitted because of indirect hyperbilirubinemia and polycythemia. Physical examination revealed ophtalmopathy. High serum T₄ with unsupressed thyroid stimulating hormone (TSH) levels suggested RTH. In this presented case, A317T mutation was detected on exon 9 of the TRb-1 gene and precise diagnosis had been confirmed with genetic testing. In neonates and infants exhibiting hypo or hyperthyroidism features with increased circulating levels of thyroid hormones with a normal or increased serum TSH concentration should raise the suspicion of RTH.
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