Article
Resistance to thyroid hormone due to defective thyroid receptor alpha.
Best practice & research. Clinical endocrinology & metabolism - 1 Aug 2015
Moran Carla, Chatterjee Krishna
Abstract excerpt
Thyroid hormones act via nuclear receptors (TRα1, TRβ1, TRβ2) with differing tissue distribution; the role of α2 protein, derived from the same gene locus as TRα1, is unclear. Resistance to thyroid hormone alpha (RTHα) is characterised by tissue-specific hypothyroidism associated with near-normal thyroid function tests. Clinical features include dysmorphic facies, skeletal dysplasia (macrocephaly, epiphyseal...
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