Thyroid Hormone Resistance Syndrome

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Is a:
  • Disease or Syndrome
Definition:
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.
Synonyms:
  • Generalized Thyroid Hormone Resistance
  • Hormone Resistance, Thyroid
  • Refetoff DeWind DeGroot Syndrome
  • Refetoff Syndrome
  • Refetoff-DeWind-DeGroot Syndrome
  • Resistance, Thyroid Hormone
  • Syndrome, Refetoff
  • Syndrome, Refetoff-DeWind-DeGroot
  • Thyroid Hormone Resistance
Broader Topics:
Narrower Topics:
  • None
Possibly Related Topics: