title: Inherited defects of thyroxine-binding proteins.
abstract: Thyroid hormones (TH) are bound to three major serum transport proteins, thyroxine-binding globulin (TBG), transthyretin (TTR) and human serum albumin (HSA). TBG has the strongest affinity for TH, whereas HSA is the most abundant protein in plasma. Individuals harboring genetic variations in TH transport proteins present with altered thyroid function tests, but are clinically euthyroid and do not require treatment. Clinical awareness and early recognition of these conditions are important to prevent unnecessary therapy with possible untoward effects. This review summarizes the gene, molecular structure and properties of these TH transport proteins and provides an overview of their inherited abnormalities, clinical presentation, genetic background and pathophysiologic mechanisms.
authors.affiliation: The University of Chicago, MC3090, 5841 South Maryland Avenue, Chicago, IL 60637, USA. Electronic address: tpappa@medicine.bsd.uchicago.edu.
authors.forename: Theodora
authors.initials: T
authors.lastname: Pappa
authors.affiliation: Istituto Oncologico Veneto IOV-IRCCS, Via Gattemelata 64, 35128, Padova, Italy. Electronic address: massi.ferrara@gmail.com.
authors.forename: Alfonso Massimiliano
authors.initials: AM
authors.lastname: Ferrara
authors.affiliation: The University of Chicago, MC3090, 5841 South Maryland Avenue, Chicago, IL 60637, USA. Electronic address: refetoff@uchicago.edu.
authors.forename: Samuel
authors.initials: S
authors.lastname: Refetoff
mesh_terms: D006801:Humans; D050010:Hyperthyroxinemia, Familial Dysalbuminemic / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D013963:Thyroid Hormones / Q000097:blood / Q000378:metabolism; D013975:Thyroxine-Binding Proteins / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism
chemical_list: D013963:Thyroid Hormones; D013975:Thyroxine-Binding Proteins
keywords: TBG deficiency; familial dysalbuminemic hyperthyroxinemia; human serum albumin; mutations; thyroid hormone transport proteins; thyroxine-binding globulin; transthyretin