Searchable abstracts of presentations at key conferences in endocrinology

ea0011s55 | Monogenic disorders illuminate metabolic disease | ECE2006

Specific metabolic features in Prader-Labhart-Willi syndome (PWS) as indicators of the underlying genetic defect

Eiholzer U

First described in 1956, Prader-Labhart-Willi syndome is a rare, complex neurodevelopmental disorder characterised by short stature, disturbed body composition with hyperphagia and hypoactivity, hypogonadism, cryptorchidism, oligophrenia, behaviour problems as well as extreme muscular hypotonia in the neonatal period. Its estimated prevalence ranges from 1:15,000–25,000 and it is caused by an absence of expression of paternally active genes in the PWS critical region on c...