[HTML][HTML] Resistance to thyroid hormone due to defective thyroid receptor alpha

C Moran, K Chatterjee - Best practice & research Clinical endocrinology & …, 2015 - Elsevier
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 dysgenesis), growth
retardation, constipation, dyspraxia and intellectual deficit. Biochemical abnormalities …