Endocrine Abstracts

TSH receptor (TSHR) is a G-protein-coupled seven-transmembrane domain receptor located in the basolateral membrane of thyroid follicular cells. The activated receptor couples to two major signal transductions pathways: the Gs/adenylate cyclase and the Gq/11/phospholipase C signalling. Many loss of function mutations have been identified in this gene leading to a wide spectrum of thyroid abnormalities, ranging from hyperthyrotropinemia and TSH resistance to severe hypothyroidis...