title: A new TRβ mutation in resistance to thyroid hormone syndrome.
abstract: Thyroid hormones (TH) exert their actions by binding nuclear receptors alpha (TRα1) and beta (TRß1 and TRß2). Resistance to thyroid hormone (RTH) is a clinical syndrome with various clinical manifestations, its hallmark being decreased tissue sensitivity to the action of thyroid hormones. We report the case of a family harbouring a novel TRß mutation. Sequencing of the TRβ gene revealed a single nucleotide substitution-C to G in codon 340: glutamine was replaced by glutamic acid. The clinical picture and biochemical and hormonal panel showed significant differences within the family, despite their sharing the same mutation. We also present the result of low-dose antithyroid treatment in one member of the family diagnosed with this rare condition.
authors.affiliation: National Institute of Endocrinology "C.I. Parhon", Bd. Aviatorilor 34-36, Sect 1, Bucharest, Romania. corina_neamtu2003@yahoo.com.
authors.forename: Corina
authors.initials: C
authors.lastname: Neamţu
authors.affiliation: National Institute of Endocrinology "C.I. Parhon", Bd. Aviatorilor 34-36, Sect 1, Bucharest, Romania.
authors.forename: Claudiu
authors.initials: C
authors.lastname: Ţupea
authors.affiliation: National Institute of Endocrinology "C.I. Parhon", Bd. Aviatorilor 34-36, Sect 1, Bucharest, Romania.
authors.forename: Diana
authors.initials: D
authors.lastname: Păun
authors.affiliation: National Institute of Endocrinology "C.I. Parhon", Bd. Aviatorilor 34-36, Sect 1, Bucharest, Romania.
authors.forename: Anca
authors.initials: A
authors.lastname: Hoisescu
authors.affiliation: National Institute of Endocrinology "C.I. Parhon", Bd. Aviatorilor 34-36, Sect 1, Bucharest, Romania.
authors.forename: Adina
authors.initials: A
authors.lastname: Ghemigian
authors.affiliation: University of Chicago Medicine, Chicago, IL, USA.
authors.forename: Samuel
authors.initials: S
authors.lastname: Refetoff
authors.affiliation: University of Chicago Medicine, Chicago, IL, USA.
authors.forename: Chutintorn
authors.initials: C
authors.lastname: Sriphrapradang
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D009154:Mutation; D010375:Pedigree; D037042:Thyroid Hormone Receptors beta / Q000235:genetics*; D018382:Thyroid Hormone Resistance Syndrome / Q000097:blood* / Q000235:genetics*
chemical_list: D037042:Thyroid Hormone Receptors beta