Hereditary Complete Thyroxine-Binding Globulin Deficiency: Identification by T3 Resin Uptake Test and DNA Analysis

Complete thyroxine-binding globulin deficiency (TBG-CD) was uncovered in a subject receiving a comprehensive health examination. The subject had an abnormally high T3 resin uptake. A family study showed that the TBG abnormality had been inherited by X-chromosome linkage. Genetic analysis revealed single nucleotide deletion, common among Japanese with TBG-CD, from the allele specific amplification of the TBG genes of the family.(Internal Medicine 32: 6-9, 1993)