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Thyroid Hormone Resistance Syndromes

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The Thyroid and Its Diseases

Abstract

Syndromes with impaired sensitivity to thyroid hormone (TH) include three types of resistance to thyroid hormone (RTH) syndromes (RTHβ, RTHα, and nonTR-RTH) and also include patients with defects in TH transport into cells (thyroid hormone cell membrane transport defect, THCMTD) and defects in TH metabolism (thyroid hormone metabolism defect, THMD). The overall goal of this chapter is to discuss the treatment options for patients with various syndromes of impaired sensitivity to TH. These are rare conditions with little or no evidence-based information for the “best” treatment of patients. The first step toward treatment of all of these syndromes is making an accurate diagnosis based on a combination of the clinical presentation and laboratory tests that ultimately requires genetic confirmation. Recognizing the etiology leads to a more logical approach to treatment.

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Authors and Affiliations

  1. Department of Medicine, The University of Miami Miller School of Medicine, Miami, FL, USA

    Roy E. Weiss

  2. Departments of Medicine, Pediatrics and Genetics, The University of Chicago, Chicago, IL, USA

    Samuel Refetoff

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  1. Roy E. Weiss
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  2. Samuel Refetoff
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Correspondence to Roy E. Weiss .

Editor information

Editors and Affiliations

  1. Department of Nuclear Medicine, Philipps University Marburg, Marburg, Germany

    Markus Luster

  2. Unit of Endocrinology Diabetes and Metabolism, Evgenidion Hospital, National and Kapodistrian University of Athens, Athens, Greece

    Leonidas H. Duntas

  3. Georgetown University School of Medicine, Washington, DC, USA

    Leonard Wartofsky

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Weiss, R.E., Refetoff, S. (2019). Thyroid Hormone Resistance Syndromes. In: Luster, M., Duntas, L., Wartofsky, L. (eds) The Thyroid and Its Diseases. Springer, Cham. https://doi.org/10.1007/978-3-319-72102-6_49

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  • DOI: https://doi.org/10.1007/978-3-319-72102-6_49

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-72100-2

  • Online ISBN: 978-3-319-72102-6

  • eBook Packages: MedicineMedicine (R0)

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