A new TRβ mutation in resistance to thyroid hormone syndrome

Corina Neamţu, Claudiu Ţupea, Diana Păun, Anca Hoisescu, Adina Ghemigian, Samuel Refetoff, Chutintorn Sriphrapradang

Download PDF

Thyroid hormones (TH) exert their actions by binding nuclear receptors alpha (TRα1) and beta (TRß1 and TRß2). Resistance to thyroid hormone (RTH) is a clinical syndrome with various clinical manifestations, its hallmark being decreased tissue sensitivity …

Identification of four novel mutations in the thyroid hormone receptor-β gene in 164 Spanish and 2 Greek patients with resistance to thyroid hormone

Antonio J. Amor, Irene Halperin, Rocίo Alfayate, Victoria M. Borrás, Arancha Escribano, Cintia González, Antonio Gutirrez, Montserrat Mauri, Pilar Pérez, Antonio Picό, Irene Vourliotaki, Josep Oriola

Download PDF

OBJECTIVE: The aim of the study was to describe the clinical, biochemical, and genetic features of a sample of Mediterranean patients with RTH (resistance to thyroid hormone) due to mutations in TRβ (thyroid hormone receptor beta) referred to our institution during the last 15 years …