Abstract
Thyroid stimulation—blocking antibody (TSBAb), an antibody that blocks stimulation of thyroid adenylate cyclase induced by thyrotropin stimulation, 1 has been considered to play some pathogenetic role in atrophic autoimmune primary hypothyroidism. 2,3 We describe a familial clustering of TSBAb that affected 4 members of 1 family. We believe that these cases provide a novel mechanism of hereditary hypothyroidism. Report of Cases. The proband, a 63-year-old woman, presented with general malaise and edema. Her goiter was not palpable. She was found to have hypothyroidism (free thyroxine, 4 pmol/L [0.3 ng/dL]; thyrotropin, 149 mU/L) and was positive for both thyrotropin receptor antibody (88.1%) and TSBAb (92.8%). Serologic tests were also positive for antithyroglobulin and antithyroid microsomal antibodies (X200 and X200). Her daughter, who had been diagnosed as having hypothyroidism with TSBAb (73.0%), had been treated with levothyroxine (100 μg/d) for several years. Her son had once been treated in another clinic under
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