Denise H van Abswoude, Karlijn Pellikaan, Anna G W Rosenberg, Kirsten Davidse, Muriel Coupaye, Charlotte Høybye, Tania P Markovic, Graziano Grugni, Antonino Crinò, Assumpta Caixàs, Christine Poitou, Helena Mosbah, Tessa Weir, Leo A van Vlimmeren, Joost P H J Rutges, Luuk W L De Klerk, Carola Zillikens, Aart J van der Lely, Laura C G de Graaff
CONTEXT: Prader-Willi syndrome (PWS) is a rare complex genetic syndrome, characterized by delayed psychomotor development, hypotonia and hyperphagia. Hormone deficiencies like hypogonadism, hypothyroidism and growth hormone deficiency are common. The combination of hypotonia, low physical activity and hypogonadism might lead to a decrease in bone mass and increase in fracture risk. Moreover, one would expect an increased risk of scoliosis due to hypotonia and low physical activity. OBJECTIVE: To study the prevalence and risk factors for skeletal problems (reduced bone mineral density, fractures, and scoliosis) in adults with PWS...
September 23, 2022: Journal of Clinical Endocrinology and Metabolism