Resistance to thyroid hormone in a Turkish child with A317T mutation in the thyroid hormone receptor-beta gene.

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.

• Authors: Sükran Poyrazoğlu, Filiz Tütüncüler, Firdevs Baş, Feyza Darendeliler
• Journal: The Turkish journal of pediatrics (Turk J Pediatr) 2008 Nov-Dec Vol. 50 Issue 6 Pg. 577-80 ISSN: 0041-4301 [Print] Turkey
• PMID: 19227423 (Publication Type: Case Reports, Journal Article)

Chemical References

• Thyroid Hormone Receptors beta
• Thyroid Hormones

Topics

• DNA Mutational Analysis
• Diagnosis, Differential
• Female
• Humans
• Infant
• Thyroid Hormone Receptors beta (genetics)
• Thyroid Hormone Resistance Syndrome (diagnosis, genetics)
• Thyroid Hormones (blood)
• Turkey