Familial dysalbuminemic hyperthyroxinemia: a study of four probands and the kindred of three.
We investigated four probands, and the kindred of three, with familial dysalbuminemic hyperthyroxinemia, using the one- and two-step tests for free thyroxin and other thyroid-function tests. The results indicate that this is an autosomal dominant trait. The discovery of eight cases in our patient population, which represents about 4% of our hyperthyroxinemic patients (8/320), during eight months indicates that this aberration is more common than suspected. Its importance lies in the misinterpretation of test results and the consequent inappropriate treatment for thyrotoxicosis.
D005189:False Positive Reactions; D005260:Female; D006801:Humans; D006980:Hyperthyroidism / Q000175:diagnosis; D008297:Male; D010375:Pedigree; D011863:Radioimmunoassay / Q000379:methods; D012709:Serum Albumin / Q000235:genetics / Q000378:metabolism*; D013577:Syndrome; D013974:Thyroxine / Q000097:blood*; D013975:Thyroxine-Binding Proteins / Q000378:metabolism
D012709:Serum Albumin; D013975:Thyroxine-Binding Proteins; D013974:Thyroxine