Journal of Endocrinological Investigation

, Volume 43, Issue 1, pp 31–41 | Cite as

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

  • M. S. Mimoto
  • S. RefetoffEmail author
Short Review


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.


Serum thyroid hormone-binding proteins Thyroxine-binding globulin Human serum albumin Transthyretin TBG deficiency Familial dysalbuminemic hyperthyroxinemia 



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.

Compliance with ethical standards

Conflict of interest

MSM declares that her spouse receives salary and stock from Pfizer, Inc. The authors declare that no competing financial interests exist.

Ethical approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of an Institutional Review Board.

Informed consent

Written consent was obtained in accordance with an Institutional Review Board-approved protocol.


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Copyright information

© Italian Society of Endocrinology (SIE) 2019

Authors and Affiliations

  1. 1.Division of Endocrinology, Diabetes and Metabolism, Department of MedicineUniversity of California, San DiegoSan DiegoUSA
  2. 2.Department of MedicineThe University of Chicago MC3090ChicagoUSA
  3. 3.Department of PediatricsThe University of Chicago MC3090ChicagoUSA
  4. 4.Committee on GeneticsThe University of Chicago MC3090ChicagoUSA

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