Inherited Disorders of Thyroid Hormone Action
Disorders of thyroid hormone action have only been characterized by resistance to thyroid hormone (THR). This is manifest by a normal or high circulating level of thyroid hormones with an inappropriate response of the target tissues, either in terms of metabolic activity and/or TSH secretion. There are a number of comprehensive reviews (1,2) that have dealt with the subject up to 1981. I have reviewed the literature to date to try and obtain further insight into the types, frequencies, and underlying mechanisms of these disorders. Because of the small number of cases reported, I have included sporadic, as well as inherited cases. I will also mention two animal models of inherited thyroid hormone resistance.
KeywordsThyroid Hormone Thyroid Hormone Action Deiodinase Activity Hypothyroid Group Nephropathic CYSTINOSIS
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