Searchable abstracts of presentations at key conferences in endocrinology

ea0056gp217 | Reproduction | ECE2018

The first Belgian series of 56 patients with congenital hypogonadotropic hypogonadism (CHH): genetic and brain abnormalities

Valdes-Socin Hernan , Libioulle Cecile , Harvengt Julie , Pintiaux Axelle , Jonas Christelle , Parent Anne Simone , Geenen Vincent , Corman Vincianne , Debray Francois Guillaume , Dideberg Vincianne , T'Sjoen Guy , De Leerner Anne , Beckers Dominique , Destree Anne , Roland Dominique , Lederer Damien , Boscolo Marina , Bours Vincent , Maiter Dominique , Beckers Albert

Introduction: CHH is a genetic syndrome that combines reproductive and brain abnormalities. The brain phenotype has been incompletely characterized. We aimed to study neuroradiological and genetic features in this first Belgian series of patients with CHH.Methods: A series of 56 adult patients (48 males, 8 females) presenting with CHH was investigated for a panel of 16 genes related to hypogonadotropic hypogonadism by next generation sequencing on a MiSe...