The Turkish Journal of Pediatrics 2008 , Vol 50 , Num 6
Resistance to thyroid hormone in a Turkish child with A317T mutation in the thyroid hormone receptor-beta gene
Unit of Pediatric Endocrinology, Department of Pediatrics, İstanbul University İstanbul Faculty of Medicine, İstanbul, Turkey Poyrazoğlu Ş, Tütüncüler F, Baş F, Darendeliler F. Resistance to thyroid hormone in a Turkish child with A317T mutation in the thyroid hormone receptor-beta gene. Turk J Pediatr 2008; 50: 577-580.

Resistance to thyroid hormone (RTH) syndrome is a rare disorder usually inherited as an autosomal dominant trait. The combination of elevated serum levels of free thyroid hormones with elevated thyroid-stimulating hormone (TSH) suggest differential diagnoses of RTH, thyroxine-binding globulin abnormalities, familial dysalbuminemic hyperthyroxinemia and TSH-secreting pituitary tumors. We report a patient with RTH in a Turkish family. The diagnosis was confirmed by the identification of a known disease-causing mutation in the thyroid hormone receptor-beta (THRβ) gene, but is the first published in the Turkish population. Genetic analysis of the mother and the patient yielded a mutation in the THRβ gene, A317T, due to a base pair substitution of an adenine for a guanine. Keywords : thyroid hormone resistance, A317T mutation

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