Familial Dysalbuminemic Hyperthyroxinemia that was Inappropriately Treated with Thiamazole Due to Pseudo-thyrotoxic Symptoms
نویسندگان
چکیده
We herein report the case of a Japanese woman with familial dysalbuminemic hyperthyroxinemia (FDH) who was initially diagnosed with Graves' disease. Direct genomic sequencing revealed a guanine to cytosine transition in the second nucleotide of codon 218 in exon 7 of the albumin gene, which then caused a proline to arginine substitution. She was finally diagnosed with FDH, which did not require treatment. FDH is - superficially - an uncommon cause of syndrome of inappropriate secretion of thyrotropin (SITSH) in Japan. A misdiagnosis of pseudo-hyperthyroidism will lead to inappropriate treatment. Thus, physicians should strongly note the possibility of FDH as a differential diagnosis of SITSH.
منابع مشابه
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 month...
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