title: Familial thyroxine-binding globulin deficiency associated with hyperthyroidism.
abstract: A 24-year-old woman with familial thyroxine-binding globulin (TBG) deficiency associated with hyperthyroidism is reported. Thyroid-stimulating hormone (TSH)-binding inhibitor immunoglobulin (TBII) was negative, whereas thyroid-stimulating antibody (TSAb) was positive. Serum thyroxine-binding globulin (TBG) levels were extremely low, and remained low even after the normalization of thyroid function with methimazole (MMI) treatment. The serum TBG level of the mother of patient was also below the normal lower limit. Genetic analysis revealed single nucleotide deletion, common among Japanese with complete TBG deficiency (TBG-CD), from the allele-specific amplification of the TBG genes of the patient.
authors.affiliation: Second Department of Internal Medicine, Jikei University School of Medicine, Tokyo.
authors.forename: K
authors.initials: K
authors.lastname: Tojo
authors.forename: Y
authors.initials: Y
authors.lastname: Miura
authors.forename: Y
authors.initials: Y
authors.lastname: Mori
authors.forename: M
authors.initials: M
authors.lastname: Yano
authors.forename: H
authors.initials: H
authors.lastname: Tanaka
authors.forename: T
authors.initials: T
authors.lastname: Hosoya
authors.forename: O
authors.initials: O
authors.lastname: Sakai
mesh_terms: D000328:Adult; D000483:Alleles; D001483:Base Sequence; D005260:Female; D017353:Gene Deletion; D006801:Humans; D006980:Hyperthyroidism / Q000097:blood / Q000235:genetics* / Q000628:therapy; D008969:Molecular Sequence Data; D010375:Pedigree; D013975:Thyroxine-Binding Proteins / Q000172:deficiency* / Q000235:genetics
chemical_list: D013975:Thyroxine-Binding Proteins