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

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Abstract

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.

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Funding

This work was supported in part by Grants R01DK15070 from the National Institutes of Health to SR. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institute of Diabetes and Digestive and Kidney Diseases or the National Institutes of Health.

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  1. Division of Endocrinology, Diabetes and Metabolism, Department of Medicine, University of California, San Diego, 9500 Gilman Drive, MC 7381, San Diego, CA, USA

    M. S. Mimoto

  2. Department of Medicine, The University of Chicago MC3090, 5841 South Maryland Avenue, Chicago, IL, 60637, USA

    S. Refetoff

  3. Department of Pediatrics, The University of Chicago MC3090, 5841 South Maryland Avenue, Chicago, IL, 60637, USA

    S. Refetoff

  4. Committee on Genetics, The University of Chicago MC3090, 5841 South Maryland Avenue, Chicago, IL, 60637, USA

    S. Refetoff

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Mimoto, M.S., Refetoff, S. Clinical recognition and evaluation of patients with inherited serum thyroid hormone-binding protein mutations. J Endocrinol Invest 43, 31–41 (2020). https://doi.org/10.1007/s40618-019-01084-9

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