ESPE Abstracts

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...

Introduction: In rare cases of obesity, genetic defects lead to hyperphagia and severe early-onset obesity. Genetic testing in patients with a suspected genetic obesity phenotype is important, as it can lead to patient-tailored treatment advice. For children, the Endocrine Society (ES) recommends genetic testing in children with early-onset of obesity (<5 years) and hyperphagia. It is unclear whether these recommendations can also be used in adult obesity c...