ESPE Abstracts

Introduction: NS is a relative frequent cause of short stature (ST) in pediatrics and its diagnosis is based on a combination of typical facial features, ST, chest wall defects, cardiac defects, developmental delay, cryptorchidism, lymphatic dysplasia, and family history (“Van Der Burgt Criteria”, revised 2007). Around 50% of NS patients presents a pathogenic variant in the PTPN11 gene. The overlap with other conditions, phenotypic changes...

Introduction: Pituitary stalk interruption syndrome (PSIS) is a rare congenital disorder characterized by absent, thin, or interrupted pituitary stalk, absent or ectopic neurohypophysis, and hypoplasia or aplasia of the adenohypophysis. It often accompanies midline abnormalities and diverse endocrine dysfunction, with its etiology largely unknown. Recent reports have linked mutations in the ROBO1 gene to PSIS.Aim: To des...