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Resistance to thyroid hormone in a Turkish child with A317T mutation in the thyroid hormone receptor-beta gene
- Source :
- The Turkish journal of pediatrics. 50(6)
- Publication Year :
- 2009
-
Abstract
- 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.
Details
- ISSN :
- 00414301
- Volume :
- 50
- Issue :
- 6
- Database :
- OpenAIRE
- Journal :
- The Turkish journal of pediatrics
- Accession number :
- edsair.pmid..........681e3d1f17e69778787e62d15b50591b