Euthyroid hyperthyroxinemia is mostly due to thyroid hormone-binding protein disorders that cause elevated total T4 and normal TSH concentrations in the absence of hyperthyroidism. Family dysalbuminemic hyperthyroxinemia (FDAH) is an autosomal dominant disease characterized by euthyroid hyperthyroxinemia due to a high affinity of defective albumin for iodothyronine. To date, several albumin gene (ALB) variants have been reported in FDAH patients. It has also been reported that mutations in TTR encoding transthyretin cause euthyroid hyperthyroxinemia (DTTRH).
Zhao L, Zhou Y, Huang F, He X, Mei G, Wang S, Zhao Y
タイトル
Clinical characteristics of familial dysalbuminemic hyperthyroxinemia in Chinese patients and comparison of free thyroxine in three immunoassay methods.
Refetoff S, Marinov VS, Tunca H, Byrne MM, Sunthornthepvarakul T, Weiss RE
タイトル
A new family with hyperthyroxinemia caused by transthyretin Val109 misdiagnosed as thyrotoxicosis and resistance to thyroid hormone--a clinical research center study.
