ea0058p035 | Miscellaneous Endocrinology | BSPED2018
Shaunak Meera
, Dimitrova Svilena
, Bridges Nicola
, Bhandari Jasjit
Background: Prader Willi Syndrome (PWS) is a disorder of genetic imprinting caused by uniparental disomy of chromosome 15. It can present in the neonatal period with dysmorphic features, hypotonia and feeding difficulties. In the UK, recombinant human Growth Hormone (rhGH) is licensed for use in PWS, improving body composition and motor development, as well as final adult height. Some studies have also demonstrated an improvement in respiratory function in children with PWS. T...