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The occurrence of a bizarre familial syndrome combining deaf-mutism, stippled epiphyses, goiter and abnormally high PBI in 2 of 6 children of a consanguineous marriage is described. Mean PBI levels were 14 and 21 μg/100 ml; BEI 9 and 15 μg/100 ml; T4-by-column 11 and 14 μg/100 ml; 24-hr 131I uptake 49 and 70%; 24-hr PB13lI conversion ratios 40 and 41%; thyro-binding index 0.81 and 0.93; TBG 17 and 20 μg/100 ml; antithyroglobulin titer less than 1:16. Potassium perchlorate discharge test was normal. Iodine metabolism studied in one subject revealed thyroid iodine clearance of 24 ml/min and renal clearance of 26 ml/min. Urinary iodide excretion was 294 υg/day, and PB131I was over 70% as T4. The T4 was identified on paper chromatography in 3 solvent systems. The free thyroxine level was 4.9 mμg/100 ml. An infant of 8 weeks had a mean PBI of 19.3 μg/100 ml, TBG of 15.8 μg/100 ml, and presumably also has the syndrome. Another sib had a mean PBI of 11 μg/100 ml. Two sibs and the parents are normal. A hypothesis is advanced suggesting the possibility of inhibition of thyroid hormone transport into tissue, or end-organ resistance to the hormone in view of the eumetabolic state of the subjects in the presence of high circulating levels of blood thyroxine and normal thyroxine binding capacity.
Refetoff et al. (Wed,) studied this question.