ea0081p155 | Pituitary and Neuroendocrinology | ECE2022
Rosenberg Anna
, Pellikaan Karlijn
, Wellink Charlotte
, Tellez Garcia Juan
, van Abswoude Denise
, van Zutven Laura
, Bruggenwirth Hennie
, Resnick James
, Jan Van der Lely Aart
, De Graaff Laura
Background: Prader-Willi syndrome (PWS) is a complex rare genetic disorder associated with hypothalamic dysfunction, pituitary hormone deficiencies, hyperphagia and (morbid) obesity. PWS is caused by loss of expression of paternally expressed genes on chromosome 15q11.2-q13. The most common genetic mechanisms leading to PWS are paternal deletion (DEL) and maternal uniparental disomy (mUPD). DELs can be subdivided in type 1 and (smaller) type 2 deletions (DEL-1, DEL-2). Most re...