Body Composition Studies in Prader-Willi Syndrome: Effects of Growth Hormone Therapy

Prader-Willi Syndrome (PWS) is characterized by infantile failure to thrive, progressive childhood obesity, hypotonia, hypogonadism, mental retardation and phenotypic abnormalities including short stature. Abnormalities of chromosome 15 can now be identified in virtually all cases1. The pathogenesis of PWS is not known, although the phenotype suggests that there may be an abnormality in substrate utilization leading to an absolute deficit of lean mass and increased fat mass. Hypothalamic and pituitary abnormalities have also been postulated2,3. However, studies of body composition, nutrient utilization, and hormone status in PWS are limited. We report initial results from a detailed investigation of body composition and growth hormone (GH) treatment in PWS.