ESPE Abstracts

Background: Prader Willi Syndrome (PWS) patients under treatment with growth hormone (GH) have a better body composition and cognitive performance than untreated patients. The 2013 guideline recommended to start this treatment as soon as possible, for that reason 14 toddlers have been included in our center. Classically a 25% decrease in the caloric intake of PWS patients has been recommended to avoid obesity. However, from clinical practice observation, w...

Introduction: Growth hormone (GH) treatment was approved in 2000 for patients with Prader-Willi syndrome (PWS). The main reason for its use was the improvement in body composition. As a result of 2 fatal episodes, it was decided to initiate it from 2 years of age arbitrarily. Average age of real start: 4-6years. GH per se is not a risk factor for mortality in PWS. The 2013 guideline recommends to star it as soon as possible, preferably under 2 years of age, when obesity is est...

Introduction: 49,XXXXY polysomy incidence is about 1 per 85000 to 100000 male births. As a rare condition with medical problems affecting different systems it should be evaluated under a multidisciplinary approach. We have reviewed the clinical characteristics of patients with this anomaly from all the country who contacted the program for evaluation.Methods: In 2016 we started a multidisciplinary program for the care of patients with sex chromosomal ane...