Contrasting phenotypes in Resistance to Thyroid Hormone α correlate with divergent properties of thyroid hormone receptor α1 mutant proteins.

CONCLUSIONS: We correlate a milder clinical phenotype and favourable response to thyroxine therapy in an RTHα patient (P1) with heterozygosity for mutant TRα1 exhibiting partial, T3-reversible, loss-of-function. In contrast, a more severe clinical phenotype, refractory to hormone therapy, was evident in another case (P2), associated with severe, virtually irreversible, dysfunction of mutant TRα1. PMID: 28471274 [PubMed - as supplied by publisher]
Source: Thyroid : official journal of the American Thyroid Association - Category: Endocrinology Tags: Thyroid Source Type: research