RTHα, a Newly Recognized Phenotype of the Resistance to Thyroid Hormone (RTH) Syndrome in Patients With THRA Gene Mutations

The article by van Mullem et al in this issue of the JCEM (1) provides additional information about the clinical characteristics of 2 of the first 3 individuals recently identified to have resistance to thyroid hormone (RTH) due to a mutation in the thyroid hormone receptor α (TRα) 1 (2, 3). In this editorial discussing this newly recognized phenotype, we will use the term RTHα to distinguish it from RTH due to mutations in the thyroid hormone...