Resistance to thyroid hormone in a Turkish child with A317T mutation in the thyroid hormone receptor-beta gene
Turkish Journal of Pediatrics, cilt.50, sa.6, ss.577-580, 2008 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 50 Sayı: 6
- Basım Tarihi: 2008
- Dergi Adı: Turkish Journal of Pediatrics
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.577-580
- Anahtar Kelimeler: A317T mutation, Thyroid hormone resistance
- Trakya Üniversitesi Adresli: Evet
Özet
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.