FAMILIAL THYROXINE-BINDING GLOBULIN DEFICIENCY IN ASSOCIATION WITH NON-TOXIC GOITRE

Abstract
A family 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 1 male and decreased to a varying extent in 3 female patients (4.0, 4.2 and 8.6 .mu.g/ml; normal range 12.5-26.0 .mu.g/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 goiter was also present in most of the family members examined irrespective of TBG levels. The transmission of the goiter trait was compatible with autosomal dominant inheritance. Its association with transmission of TBG deficiency is apparently not causal but coincidental.

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