Resistance to thyroid hormone in a Turkish child with A317T mutation in the thyroid hormone receptor-beta gene.
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 (THRbeta) gene, but is the first published in the Turkish population. Genetic analysis of the mother and the patient yielded a mutation in the THRbeta gene, A317T, due to a base pair substitution of an adenine for a guanine.
Poyrazoğlu
Sükran
S
Unit of Pediatric Endocrinology, Department of Pediatrics, Istanbul University Istanbul Faculty of Medicine, Istanbul, Turkey.
Tütüncüler
Filiz
F
Baş
Firdevs
F
Darendeliler
Feyza
F
D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007223:Infant; D037042:Thyroid Hormone Receptors beta / Q000235:genetics*; D018382:Thyroid Hormone Resistance Syndrome / Q000175:diagnosis / Q000235:genetics*; D013963:Thyroid Hormones / Q000097:blood; D014421:Turkey
D037042:Thyroid Hormone Receptors beta; D013963:Thyroid Hormones