Thyroid Hormone Resistance Syndrome
"Thyroid Hormone Resistance Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
An inherited autosomal recessive trait, characterized by peripheral resistance to THYROID HORMONES and the resulting elevation in serum levels of THYROXINE and TRIIODOTHYRONINE. This syndrome is caused by mutations of gene THRB encoding the THYROID HORMONE RECEPTORS BETA in target cells. HYPOTHYROIDISM in these patients is partly overcome by the increased thyroid hormone levels.
| Descriptor ID |
D018382
|
| MeSH Number(s) |
C19.874.410.500
|
| Concept/Terms |
Thyroid Hormone Resistance Syndrome- Thyroid Hormone Resistance Syndrome
- Thyroid Hormone Resistance
- Hormone Resistance, Thyroid
- Resistance, Thyroid Hormone
- Refetoff Syndrome
- Syndrome, Refetoff
- Refetoff-DeWind-DeGroot Syndrome
- Refetoff DeWind DeGroot Syndrome
- Syndrome, Refetoff-DeWind-DeGroot
- Generalized Resistance to Thyroid Hormone
- Generalized Thyroid Hormone Resistance
|
Below are MeSH descriptors whose meaning is more general than "Thyroid Hormone Resistance Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Thyroid Hormone Resistance Syndrome".
This graph shows the total number of publications written about "Thyroid Hormone Resistance Syndrome" by people in this website by year, and whether "Thyroid Hormone Resistance Syndrome" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 1994 | 4 | 0 | 4 |
| 1995 | 3 | 0 | 3 |
| 1996 | 6 | 0 | 6 |
| 1997 | 5 | 0 | 5 |
| 1998 | 1 | 0 | 1 |
| 1999 | 3 | 0 | 3 |
| 2000 | 2 | 1 | 3 |
| 2001 | 1 | 0 | 1 |
| 2003 | 3 | 1 | 4 |
| 2004 | 2 | 1 | 3 |
| 2005 | 4 | 0 | 4 |
| 2006 | 2 | 0 | 2 |
| 2007 | 1 | 1 | 2 |
| 2008 | 3 | 0 | 3 |
| 2010 | 2 | 1 | 3 |
| 2012 | 2 | 0 | 2 |
| 2013 | 1 | 0 | 1 |
| 2014 | 1 | 0 | 1 |
| 2016 | 3 | 0 | 3 |
| 2017 | 2 | 0 | 2 |
| 2018 | 2 | 0 | 2 |
| 2019 | 1 | 0 | 1 |
| 2020 | 1 | 0 | 1 |
| 2021 | 2 | 0 | 2 |
| 2022 | 1 | 0 | 1 |
| 2024 | 0 | 1 | 1 |
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Below are the most recent publications written about "Thyroid Hormone Resistance Syndrome" by people in Profiles.
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2024 European Thyroid Association Guidelines on diagnosis and management of genetic disorders of thyroid hormone transport, metabolism and action. Eur Thyroid J. 2024 Aug 01; 13(4).
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Severe Resistance to Thyroid Hormone Beta in a Patient with Athyreosis. Thyroid. 2022 03; 32(3):336-339.
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Resistance to Thyroid Hormone Beta: A Focused Review. Front Endocrinol (Lausanne). 2021; 12:656551.
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Increased Hepatic Fat Content in Patients with Resistance to Thyroid Hormone Beta. Thyroid. 2021 07; 31(7):1127-1134.
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Early Diagnosis and Treatment of an Infant with a Novel Thyroid Hormone Receptor a Gene (pC380SfsX9) Mutation. Thyroid. 2021 06; 31(6):1003-1005.
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Very Severe Resistance to Thyroid Hormone ß in One of Three Affected Members of a Family with a Novel Mutation in the THRB Gene. Thyroid. 2019 10; 29(10):1518-1520.
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13th International Workshop on Resistance to Thyroid Hormone and Thyroid Hormone Action. Thyroid. 2018 06; 28(6):690-691.
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Human Genetics of Thyroid Hormone Receptor Beta: Resistance to Thyroid Hormone Beta (RTHß). Methods Mol Biol. 2018; 1801:225-240.
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Prenatal Diagnosis of Resistance to Thyroid Hormone and Its Clinical Implications. J Clin Endocrinol Metab. 2017 10 01; 102(10):3775-3782.
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Fetal Exposure to High Maternal Thyroid Hormone Levels Causes Central Resistance to Thyroid Hormone in Adult Humans and Mice. J Clin Endocrinol Metab. 2017 09 01; 102(9):3234-3240.