hrp0097p1-156 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

A novel ROBO1 gene variant in a patient with pituitary stalk interruption and multiple congenital anomalies

Nioti Olga , Smyrnaki Pinelopi , Giatzakis Christoforos , Xekouki Paraskevi , Stratakis Constantine

Background: Pituitary stalk interruption syndrome is a rare disorder characterized by an absent or ectopic posterior pituitary, anterior pituitary hypoplasia and an interrupted pituitary stalk. In some cases, a variety of additional congenital defects may be present. A genetic cause is identified in only around 5% of all cases.Case presentation: A 13-year-old male presented to the pediatric endocrinology clinic because o...