Endocrine Abstracts

Introduction: CBG is the main transport protein for glucocorticoids in blood. CBG gene is a member of the serine protease inhibitor family, located at chromosome 14q32. Inherited CBG deficiency (MIM 611489) is a rarely recessive disorder, and the phenotype associated includes low cortisol levels, presence of normal ACTH levels, hypotension and fatigue, although the exact pathophysiological mechanisms involved remain uncertain. We identified a family with a complex phe...

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...

Introduction: Three peptides, acylated ghrelin (AG), unacylated ghrelin (UAG) and obestatin are derived from a common prohormone, preproghrelin by posttranslational processing, originating from endocrine cells in the stomach. Circulating ghrelin levels are decreased in obese subjects and increased by fasting and in patients with anorexia nervosa, but the physiological role of the three peptides is poorly understood in particular in childhood.Aim: In orde...