Familial Thyroxine-Binding Globulin Deficiency
Thyroxine-binding globulin deficiencyの一家系

Yoshimasa SHISHIBA, Taeko SHIMIZU, Shizuko YOSHIMURA, Kazuo SHIZUME
1970 Folia Endocrinologica Japonica  
A second unrelated family with TBG deficiency in our country was presented. The proband, K.S., a 50-year-old male was diagnosed as clinically euthyroid. However, laboratory data revealed a decrease in PM, 1.8 ,e2g/c11, T4 by Murphy, 3.0 itgicil (normal range 7-14), and an elevation of free T4 fraction as much as twice that of normal, and an elevation of T,-resin-sponge-uptake, indicating decrease or deficiency of TBG. Reverse flow electrophoresis in glycine-acetate buffer system revealed
more » ... e deficiency of TBG. Radiothyroxine turnover studies demonstrated shortened T 1/2 of radiothyroxine in the blood, 3.5 days, normal T4 distribution space, 11.2 1, increased T4-fractional turnover rate, 19.8%, and normal T4-daily disposal rate, 67 pg/day. Measurement of T4, free T4 fraction and TBG-binding capacity was made on the family members. Decrease in TBG-binding capacity was detected in the second daughter of the proband and the three female relatives on the maternal side. Seven members of paternal relatives were entirely normal in this respect. The mode of inheritance of the abnormality in this family was compatible with the presumption of Nicolai and associate, indicating that the inheritance was an X-linked semi-dominant trait. (See pp. 28-31) Vol. 46 No. 1
doi:10.1507/endocrine1927.46.1_28 pmid:4986366 fatcat:kafyuuo6qzcbjlqscqvl2bnofm