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Disease

Thyroid Hormone Resistance Syndrome

Emerging research
1
Publications
2024
Latest publication
Latest activity
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Recent clinical, regulatory, research and industry developments relating to this disease.

What's happening now

An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.

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Research activity

1 papers

Key research shaping understanding of this disease, combining the latest publications with the most influential evidence.

Major themes1
  • Thyroid Hormones1
Leading journals1
  • European thyroid journal1
Leading researchers8
  • Beck-Peccoz P1
  • Chatterjee K1
  • Groeneweg S1
  • Gurnell M1
  • Moran C1
  • Peeters R1
  • Persani L1
  • Refetoff S1
Affiliations (unnormalised)6
  • Beacon Hospital1
  • Centre de référence des maladies rares de la Thyroïde et des récepteurs hormonaux1
  • Department of Internal Medicine and Rotterdam Thyroid Center1
  • Institute of Metabolic Science1
  • School of Medicine1
  • St Vincent's University Hospital1

Reference

Authoritative identity, definition & identifiers.

Defined in MeSH

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.

References & data sources
  • Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
  • Research activity — Europe PMC (EMBL-EBI) + OpenAlex-derived paper links
  • Related entities are derived from literature co-mention (studied together) — associative, not causal.