Endocrine Abstracts

Introduction: Prader Willi Syndrome (PWS) is a genetic syndrome characterized by hyperphagia, morbid obesity, and many other endocrine alterations. PWS subjects present higher ghrelin levels. The cause of this increase as well as the modulation of ghrelin secretion at fasting and feeding in relation to other metabolic parameters in PWS is largely unknown. It has also been demonstrated that many ghrelin gene (GHRL) polymorphisms are associated with obesity, type 2 diabetes, and...

Mutations in genes encoding pituitary-specific factors have been identified in patients with idiopathic isolated GH deficiency (IGHD) or combined pituitary hormone deficiency (CPHD), with or without neuro-morphological abnormalities. We screened 205 IGHD (M/F:131/74; 183 sporadic and 22 belonging to 12 families) for mutations in GH1, GHRH-R, HESX1 and 129 CPHD, (M/F:75/54; 118 sporadic and 13 belonging to 9 families) for mutations in PIT1, PROP1, <i...