ESPE Abstracts

Hutchinson-Gilford Progeria Syndrome (HGPS) is an extremely rare condition (estimated incidence 1:4–8 million), caused by mutations in LMNA gene, which leads to premature aging. Median life expectancy is shortened to 13 years due to vascular complications such as stroke or myocardial infarction. We present below the history of a child born with a pathogenic LMNA variant c.433G>A (p.Glu145Lys). A male patient was referred due to failure to thrive and low growth velocit...

Background: Following a phase of feeding difficulties and underweight in early life, children with Prader-Willi syndrome (PWS) develop hyperphagia and a tendency towards severe obesity. Growth hormone therapy (GH) has been approved in PWS to compensate their growth failure but may exert also additional effects on muscle component and body composition as well.Objectives: We aimed to test if an early initiation of GH thera...