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Cited by 139Thyroid Disorders and TreatmentsProtein Interaction Studies and Fluorescence AnalysisMetabolism and Genetic Disorders

Inherited defects of thyroxine-binding proteins

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Pappa, Theodora, Ferrara, Alfonso Massimiliano, Refetoff, Samuel·2015·Best Practice & Research Clinical Endocrinology & Metabolism
DOI 10.1016/j.beem.2015.09.002PMC PMC4632647
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Abstract

Thyroid hormones (TH) are bound to three major serum transport proteins, thyroxine-binding globulin (TBG), transthyretin (TTR) and human serum albumin (HSA). TBG has the strongest affinity for TH, whereas HSA is the most abundant protein in plasma. Individuals harboring genetic variations in TH transport proteins present with altered thyroid function tests, but are clinically euthyroid and do not require treatment. Clinical awareness and early recognition of these conditions are important to prevent unnecessary therapy with possible untoward effects. This review summarizes the gene, molecular structure and properties of these TH transport proteins and provides an overview of their inherited abnormalities, clinical presentation, genetic background and pathophysiologic mechanisms.

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  • Abnormality in abundances or binding affinities of THBPs only results in changes in total, not free, THs in the blood, and patients are in most cases clinically euthyroid.

    “abnormality in the abundances or binding affinities of THBPs only result in changes in the concentrations of total, not free, THs in the blood, and the patients are in most cases clinically euthyroid (28).”

    From Intrathyroidal feedforward and feedback network regulating thyroid hormone synthesis and secretion (2022) · cites this paper as [28]

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Authors
Pappa, T., Ferrara, A. M., & Refetoff, S.
Affiliations
  • Istituto Oncologico Veneto (IT)
  • University of Chicago (US)
Corresponding author
Refetoff, Samuel
ORCID
Venue
Best Practice & Research Clinical Endocrinology & Metabolism
Publisher
Elsevier BV
Published
2015-10
Volume
29
Issue
5
Pages
735-747
ISSN
1521-690X (ISSN-L)
DOI
10.1016/j.beem.2015.09.002
PMC
PMC4632647
OpenAlex
W2150635195
Cited by
139
References
0
Citations by year
2026: 12 · 2025: 9 · 2024: 18 · 2023: 11 · 2022: 16 · 2021: 13 · 2020: 12 · 2019: 14 · 2018: 14 · 2017: 14 · 2016: 5
FWCI
1.61
Type
journal article
Language
en
Open access
Licence
Locations
  • Best Practice & Research Clinical Endocrinology & Metabolism (publishedVersion)
  • PubMed (publishedVersion)
  • PubMed Central (acceptedVersion)
Funders
  • National Institutes of Health USA (R37DK15070)
  • Seymour J. Abrams fund
Topics
  • Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Thyroid Disorders and Treatments
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Protein Interaction Studies and Fluorescence Analysis
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
Keywords
thyroxine-binding proteins, thyroxine-binding globulin, prealbumin, human serum albumin, thyroid hormone transport, genetic variants, thyroid function tests, euthyroidism, molecular structure, pathophysiology
MeSH terms
Humans, Mutation, Thyroid Hormones, Thyroxine-Binding Proteins, Hyperthyroxinemia, Familial Dysalbuminemic

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