hrp0082p2-d3-507 | Perinatal and Neonatal Endocrinology | ESPE2014

A Couple of Naturally Conceived Twins Affected by Prader–Willi Syndrome

Di Candia Stefania , Massimello Marta , Cammarata Bruna , Sgaramella Paola , Chiumello Giuseppe

Background: Prader–Willi syndrome (PWS) is a relatively common multisystem disorder with a prevalence estimated in several studies to be in a range of one in 10 000–30 000 individuals.Objective and hypotheses: For the first time to our knowledge, we describe the case of a couple of twin, naturally conceived, monochorionic diamniotic, both affected by PWS.Method: The gravida 3 para 1 mother was 43, and the father 40, at th...

hrp0082p2-d1-417 | Growth Hormone | ESPE2014

GH Stimulated Levels in Prader–Willi Syndrome During the Transition Period between Childhood and Adulthood

Grugni Graziano , Corrias Andrea , Di Candia Stefania , Fintini Danilo , Gargantini Luigi , Iughetti Lorenzo , Ragusa Letizia , Salvatoni Alessandro , Sartorio Alessandro , Bocchini Sarah , Delvecchio Maurizio , Chiumello Giuseppe , Crino Antonino

Introduction: Previous reports support the hypothesis of an age dependent derangement of the hypothalamus–pituitary axis occurring in PWS subjects. In this context, transition years represent an important phase of growth process when somatic development reaches its completion. In the general population, GH deficiency (GHD) during the transition phase is associated with deterioration of body composition, metabolic alterations and reduced bone mineral density. PWS subjects ...

hrp0084p3-943 | GH & IGF | ESPE2015

Influence of the Application of the POI Score on the Results of GH Therapy in Prader-Willi

Salvatoni Alessandro , Bocchini Sarah , Crino Antonino , Di Candia Stefania , Grugni Graziano , Iughetti Lorenzo , Nespoli Luigi , Nosetti Luana , Padoan Giovanni , Pilotta Alba , Piran Marzia , Russotto Valeria Spica

Background: According to international guidelines Prader-Willi children during GH treatment must be closely monitored by polysomnography, ENT evaluation and IGF1 levels.Objective and hypotheses: The study aims to determine whether the modulation of GH therapy in children and adolescents with Prader-Willi Syndrome with a specific decisional score (POI score; Salvatoni A., Horm Res Paediatr. 2012) changes and to what extent the results of the therapy.<...