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Hereditary complete thyroxine-binding globulin deficiency: identification by T3 resin uptake test and DNA analysis
T Noguchi1, I Yamamori, J Takamatsu
1Sakuragaoka Hospitel, Hyogo, Japan.
Internal Medicine (Tokyo, Japan)
|January 1, 1993
Abstract:
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.