Familial thyroxine-binding globulin deficiency in association with non-toxic goitre.
A kindred is presented in which 4 members in 3 generations showed absent or reduced serum concentrations of thyroxine-binding globulin (TBG). TBG was undetectable by radioimmunoassay in one male and decreased to varying extent in 3 female patients (4.0, 4.2 and 8.6 microgram/ml; normal range 12.5--26.0 microgram/ml). Total thyroxine serum concentrations in the affected subjects were well in the hypothyroid range without clinical evidence of hypothyroidism. The mode of transmission of the trait was consistent with X-chromosome linkage. A high incidence of non-toxic goitre was also present in most of the family members examined irrespective of TBG levels. The transmission of the goitre trait was compatible with autosomal dominant inheritance. Thus its association with transmission of TBG deficiency was interpreted as not causal but coincidental.
D000328:Adult; D002675:Child, Preschool; D005260:Female; D006042:Goiter / Q000097:blood / Q000235:genetics*; D006801:Humans; D006965:Hyperplasia; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011863:Radioimmunoassay; D013972:Thyrotropin / Q000097:blood; D013974:Thyroxine / Q000097:blood; D013975:Thyroxine-Binding Proteins / Q000172:deficiency*; D014284:Triiodothyronine / Q000097:blood; D014960:X Chromosome
D013975:Thyroxine-Binding Proteins; D014284:Triiodothyronine; D013972:Thyrotropin; D013974:Thyroxine