Searchable abstracts of presentations at key conferences in endocrinology

ea0031oc2.4 | Steroids and thyroid | SFEBES2013

THRA or DIO2 mutations are not a common cause of high bone mass in humans

Gogakos A I , Bassett J H D , Gluer C C , Reid D M , Felsenberg D , Roux C , Eastell R , Williams G R

Mice with dominant-negative mutations of thyroid hormone receptor α1 (TRα1) are euthyroid but display growth retardation and delayed bone age as juveniles and increased bone mass during adulthood, indicating impaired skeletal thyroid hormone responsiveness. The first autosomal dominant mutations affecting TRα1 in humans were recently described in two unrelated children and one parent who were euthyroid apart from a low T4:T3 ratio. Consiste...