On Tuesday June 7th at 17:00 – 18:00 CET an Endo-ERN webinar about “Noonan syndrome with emphasis on current guidelines regarding growth, endocrinology and growth hormone therapy“ will be given by Jovanna Dahlgren from Sahlgrenska University Hospital, Sweden and Kees Noordam from Radboud University Medical Centre, the Netherlands and Centre for Paediatric Endocrinology Zurich (PEZZ), Zurich, Switzerland.
Noonan syndrome (NS) belongs to the group of Noonan syndrome spectrum disorders (NSSD), which is a group of phenotypically related conditions. These syndromes are caused by germline pathogenic variants in genes within the Ras/mitogen-activated protein kinase (Ras/MAPK) signalling pathway. The most prevalent syndrome is NS (OMIM 163950). The clinical presentation is extremely variable. Main features are characteristic facial features, heart defects, short stature and feeding problems. Endocrine problems are confined to disturbances in the IGF-1 growth hormone axis and Sertoli cell dysfunction in males. In this webinar we will give a short overview of the clinical problems in NS and present and discuss the current guidelines regarding endocrinology, growth and growth hormone therapy in NS.
|Webinar||Noonan syndrome with emphasis on current guidelines regarding growth, endocrinology and growth hormone therapy|
|Datum||7 červnath, 2022|
|Time||17:00 – 18:00 hr|