Selective pituitary thyroid hormone resistance is a hereditary disorder caused by mutation of the thyroid hormone receptor. The pattern of inheritance is not clear as in the same family individuals harbouring the same genotype may show quite distinct clinical features. Pathophysiologically the splice variant is affected that is predominantly expressed in hypothalamus in in the pituitary gland. This results in a disturbed feedback and unrestricted stimulation of the thyroid gland. The clinical features include goiter and all signs of hyperthyreosis with inappropriatle elevated TRH and TSH.
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OMIM.ORG article Omim 145650 |