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).
Category
Endocrine and metabolic disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Endocrine diseases
Disorders of the thyroid gland or thyroid hormones system
5A0Y Other specified disorders of the thyroid gland or thyroid hormones system
H02893 Euthyroid hyperthyroxinemia
Zhao L, Zhou Y, Huang F, He X, Mei G, Wang S, Zhao Y
Title
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
Title
A new family with hyperthyroxinemia caused by transthyretin Val109 misdiagnosed as thyrotoxicosis and resistance to thyroid hormone--a clinical research center study.
