[Genetic deficiency of thyroxin-binding protein in 4 members of a family (author's transl)].
Four members of the same family (2 male and 2 female) with normal thyroid function were found to have decreased total T3 and total T4, elevated response to the T3 test and low free thyroxin index. Such biological changes result from a deficiency in carrier protein and should be distinguished from nearly similar abnormalities observed in low T3 syndrome and hypothyroidism. Whilst gonosomal transmission through the X chromosome of thyroxin-binding protein deficiency seems well established, our findings show that another mechanism, i.e. dominant autosomal heredity, is practically certain.
D000510:Alpha-Globulins / Q000172:deficiency* / Q000235:genetics; D003951:Diagnostic Errors; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007037:Hypothyroidism / Q000175:diagnosis; D008297:Male; D008875:Middle Aged; D012737:Sex Factors; D013975:Thyroxine-Binding Proteins / Q000172:deficiency* / Q000235:genetics; D014284:Triiodothyronine / Q000032:analysis
D000510:Alpha-Globulins; D013975:Thyroxine-Binding Proteins; D014284:Triiodothyronine
Déficit génétique en globuline fixant la thyroxine chez quatre membres d'une famille.