Prader-Willi Syndrome: New perspectives and effects of growth hormone treatment in children

textabstractThis thesis encompasses studies embedded in the Dutch national growth hormone trial for children with Prader-Willi syndrome (PWS). The syndrome was fi rst described by Prader, Labhart, and Willi in 1956, reporting a combination of obesity, short stature, cryptorchidism, oligophrenia, and neonatal hypotonia.1 To date, our knowledge about this syndrome has grown vastly, although much remains to be elucidated. In concordance with this growing knowledge, new questions and dilemmas are met. This chapter provides an overview of the clinical manifestations of PWS and the chromosomal defects from which it originates. In the scope of this thesis, several symptoms are described in detail and the effects of growth hormone treatment are commented on. Subsequently, the issue of sudden death in children with Prader-Willi syndrome is discussed. Finally, the objectives of the studies described in the following chapters are presented