title: A Chinese family with familial dysalbuminaemic hyperthyroxinaemia.
abstract: We report the results of biochemical and genetic studies in a Chinese family with familial dysalbuminaemic hyperthyroxinaemia. Total thyroxine levels were 1.2 to 1.7 times the upper limit of the reference range and free thyroxine levels were 1.2 to 1.6 times the upper reference limit. Concentrations of thyroid-stimulating hormone (thyrotropin) and free tri-iodothyronine were normal in all family members tested. Overall, thyroid function tests showed high total thyroxine levels in five males and two females over two generations in the family. The diagnosis of familial dysalbuminaemic hyperthyroxinaemia was confirmed by the detection of a guanine to adenine missense mutation in the second nucleotide of codon 218 of the gene encoding human serum albumin, showing that the mutation in this family is the same as that previously found in Caucasian populations.
authors.affiliation: Department of Medicine, Queen Elizabeth Hospital, 30 Gascoigne Road, Kowloon, Hong Kong. tscz01@ha.org.hk
authors.forename: S C
authors.initials: SC
authors.lastname: Tiu
authors.forename: K L
authors.initials: KL
authors.lastname: Choi
authors.forename: C C
authors.initials: CC
authors.lastname: Shek
authors.forename: T C
authors.initials: TC
authors.lastname: Lau
mesh_terms: D000328:Adult; D002681:China; D005260:Female; D006801:Humans; D006981:Hyperthyroxinemia / Q000235:genetics*; D010375:Pedigree; D012709:Serum Albumin / Q000378:metabolism*; D013960:Thyroid Function Tests; D013974:Thyroxine / Q000378:metabolism
chemical_list: D012709:Serum Albumin; D013974:Thyroxine