Prader-Willi Syndrome

Prader Willi syndrome (PWS) is a rare and complex genetic disease, with numerous implications on metabolic, endocrine, neurologic systems, with behavior and intellectual difficulties. PWS is mainly characterized by severe hypotonia with feeding difficulties in the first years of life. Global developmental delays, hyperphagia with a gradual development of morbid obesity at about three years of age. It is also recognizable by facial features, strabismus, and other musculoskeletal conditions. Many patients with PWS manifest short stature due to growth hormone deficiency. These individuals also present with hypothalamic dysfunction, leading to several endocrinopathies such as hypogonadism, hypothyroidism, central adrenal insufficiency, with reduced bone mineral density. Therefore these patients need to be closely followed by an endocrinologist throughout their lifespan.[1]