Clinical recognition and evaluation of patients with inherited serum thyroid hormone-binding protein mutations

• Published in: Journal of endocrinological investigation Vol. 43; no. 1; pp. 31 - 41
• Main Authors: Mimoto, M. S., Refetoff, S.
• Format: Journal Article
• Language: English
• Published: Cham Springer International Publishing 01.01.2020; Springer Nature B.V
• Subjects: Carrier Proteins - genetics; Endocrinology; Evaluation Studies as Topic; Genetic diversity; Globulins; Humans; Internal Medicine; Medicine; Medicine & Public Health; Membrane Proteins - genetics; Metabolic Diseases; Mutation; Patients; Proteins; Short Review; Thyroid; Thyroid Diseases - diagnosis; Thyroid Diseases - genetics; Thyroid gland; Thyroid Hormone-Binding Proteins; Thyroid Hormones - genetics; Thyroxine; Transthyretin; Human serum albumin; Serum thyroid hormone-binding proteins; Thyroxine-binding globulin; TBG deficiency; Transthyretin; Familial dysalbuminemic hyperthyroxinemia
• ISSN: 1720-8386; 0391-4097; 1720-8386
• DOI: 10.1007/s40618-019-01084-9

There are three important thyroid hormone-binding proteins in human serum, thyroxine-binding globulin, transthyretin, and albumin. Genetic variation in these proteins can lead to altered thyroid hormone binding and abnormalities in serum tests of thyroid hormone. Importantly, patients harboring these mutations are euthyroid; thus, the recognition of these conditions is crucial to prevent unnecessary repeated testing and treatment. This article provides an updated overview of serum thyroid hormone transport biology and reviews the underlying genetic alterations, clinical presentation, and appropriate evaluation of patients with suspected mutations in serum thyroid hormone-binding proteins.