Diseases

Thyroid Hormone Resistance Syndrome

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.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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.

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Classification

Broader headings

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See Also

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Synonyms

10 entry terms
  • Refetoff Syndrome
  • Refetoff-DeWind-DeGroot Syndrome
  • Refetoff DeWind DeGroot Syndrome
  • Syndrome, Refetoff
  • Syndrome, Refetoff-DeWind-DeGroot
  • Generalized Resistance to Thyroid Hormone
  • Generalized Thyroid Hormone Resistance
  • Thyroid Hormone Resistance
  • Hormone Resistance, Thyroid
  • Resistance, Thyroid Hormone

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

Indexing Annotation

differentiate from EUTHYROID SICK SYNDROME where a non-thyroid disease is also present

MeSH Record

History Note

95

MeSH Hierarchy

Tree Number

  1. C19w.874w.410w.500w

AMA Style

References

  1. National Library of Medicine. Thyroid Hormone Resistance Syndrome. Medical Subject Headings (MeSH). 2026. Unique ID D018382. http://id.nlm.nih.gov/mesh/2026/D018382
  2. Thyroid Hormone Resistance Syndrome. In: Wikipedia. https://en.wikipedia.org/wiki/Thyroid_hormone_resistance
  3. Thyroid Hormone Resistance Syndrome. In: Wikidata. https://www.wikidata.org/wiki/Q1515038