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.

Year introduced: 1995

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Tree Number(s): C19.874.410.500

MeSH Unique ID: D018382

Entry Terms:

• 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
• Thyroid Hormone Resistance
• Hormone Resistance, Thyroid
• Resistance, Thyroid Hormone

See Also:

• Euthyroid Sick Syndromes

All MeSH Categories
Diseases Category
Endocrine System Diseases
Thyroid Diseases
Hyperthyroxinemia
Thyroid Hormone Resistance Syndrome