hrp0095p1-536 | Multisystem Endocrine Disorders | ESPE2022
Vincenzi Gaia
, Cavallini Anna
, Abbate Marco
, Romaniello Romina
, Pozzobon Gabriella
, Cristina Vigone Maria
Septo-optic dysplasia (SOD) is a rare congenital disorder characterized by a classic triad of optic nerve hypoplasia, agenesis of septum pellucidum and corpus callosum, and hypoplasia of the hypothalamic-pituitary axis. Up to date, a shared consensus is not available and the diagnosis relies mainly on clinical and neuroradiological findings. Even though few genes have been described as responsible for this syndrome, the precise causes of SOD remain unknown and a combination of...