ea0030p58 | (1) | BSPED2012
Thornton Mary
, Banerjee Indi
, Padidela Raja
, O'Shea Elaine
, Jones Julie
, Amin Rakesh
, Patel Leena
, Ehtisham Sarah
, Clayton Peter
, Skae Mars
Prader-Willi syndrome (PWS) is a rare genetic condition characterised by hypotonia, early feeding difficulties, hyperphagic obesity, hypogonadism and short stature; with an incidence between 1/15 000 and 1/25 000 live births in the UK. It is caused by failed expression of paternally inherited genes in the imprinting region of chromosome 15q11.2q13. Recombinant human GH (rhGH) is the main pharmacological treatment used in PWS.Aims: We aimed to revie...