Current status of growth hormone therapy in Prader–Willi syndrome

Abstract

Prader-Willi syndrome (PWS) is a complex genetic disorder characterized by muscular hypotonia, hypogonadism, short stature, hyperphagia, obesity, cognitive disabilities and behavioral problems. Body composition is abnormal and growth hormone (GH) secretion is insufficient with more body fat than lean body mass. In children with PWS treatment with GH improves height, head size, body composition and psychomotor functioning. In adults with PWS treatment with GH improves body composition, physical activity and quality of life. However, restricted diet and regular physical exercise are cornerstone treatments in PWS also during GH treatment. GH treatment should be considered in PWS patients with a genetically confirmed diagnosis. Cognitive disabilities and scoliosis are not contraindications to GH treatment. Adverse effects to GH treatment in PWS are few, but glucose metabolism and changes in respiration must be monitored carefully, especially in individuals with predispositions. GH treatment should be continued as long as benefits outweigh the risks.