ESPE Abstracts

Introduction: Prader-Willi Syndrome (PWS) is a complex hypothalamic disorder, causing hypotonia, intellectual disability (ID), pituitary hormone deficiencies and hyperphagia. Up to 4% of young patients with PWS die unexpectedly, every year. The mean age of reported deaths in PWS is 29.5 years; 20% of deaths even occur below age 18 years. Mortality data show that more than 50% of deaths are of cardio-pulmonary origin. Morbid obesity, diabetes and hypertension are strong risk fa...

Introduction: Patients with rare genetic syndromes (RGS) often have a combination of hormone deficiencies, organ problems and neurodevelopmental disorders. Due to excellent paediatric care, a growing number of patients is reaching adult age. Transition of these patients to adult health care system has proved to be challenging. Due to the rarity and complexity of their syndromes, patients with RGS often suffer from medical complications due to needless diagnost...