A mutation in thyroid hormone receptor beta causing "resistance to thyroid hormone" in a neonate.

S Cömert, Y Akin, A Vitrinel, B Telatar, T Ağikuru, H Gözü, R Bircan, S Turan

Department of Pediatrics, Dr. Lütfi Kirdar Kartal Training and Research Hospital, Istanbul, Turkey. serdarcomert73@yahoo.com.tr

Minerva pediatrica 2010 Aug

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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.

Citation

S Cömert, Y Akin, A Vitrinel, B Telatar, T Ağikuru, H Gözü, R Bircan, S Turan. A mutation in thyroid hormone receptor beta causing "resistance to thyroid hormone" in a neonate. Minerva pediatrica. 2010 Aug;62(4):419-22