Endocrine Abstracts

BackgroundFeatures of Prader-Willi syndrome (PWS) overlap with features of growth hormone (GH) deficiency, like small hands and feet, short stature, increased body fat and low muscle mass and strength. In children with PWS, GH treatment improves physical health, cognition and quality of life (QoL). GH treatment is standard of care in PWS children, but in adults this is not the case. A systematic review and meta-analysis was conducted to provide a concise...

IntroductionPrader-Willi syndrome (PWS) is a complex genetic syndrome in which hypothalamic dysfunction leads to hyperphagia and pituitary hormone deficiencies (PHD), among others. The majority of patients have intellectual disability (ID) and use of psychotropic drugs is frequent. Due to hypotonia and the low muscle mass associated with the syndrome, adults with PWS have a low basal metabolic rate (BMR). Combined with hyperphagia, this results in high r...

ContextGermline mutations in the aryl hydrocarbon receptor-interacting protein (AIP) have been identified in patients with pituitary adenomas, most frequently presenting as somatotropinomas in the setting of familial isolated pituitary adenoma (FIPA). Our current understanding of AIP related tumorigenesis indicates that it leads to isolated pituitary adenomans, while other associated tumors have not typically been considered part of the...