Thyroid hormone resistance.
Generalized resistance to thyroid hormone (GRTH) encompasses a heterogeneous group of conditions characterized by reduced responses of target tissues to thyroid hormone due to defects at the site of hormone action. In the majority of patients, GRTH is inherited as a dominant trait associated with mutations in the hormone-binding domain of the thyroid hormone receptor. GRTH serves as a prototype of other resistance syndromes for hormones that act via nuclear receptors.
Weiss
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Department of Medicine, University of Chicago, Illinois 60637.
Refetoff
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D003937:Diagnosis, Differential; D006801:Humans; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D011547:Pseudohypoparathyroidism / Q000235:genetics / Q000503:physiopathology*; D011988:Receptors, Thyroid Hormone / Q000235:genetics / Q000502:physiology*; D013577:Syndrome; D013960:Thyroid Function Tests; D013963:Thyroid Hormones / Q000235:genetics / Q000502:physiology*
D011988:Receptors, Thyroid Hormone; D013963:Thyroid Hormones