ESPE Abstracts

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...

Introduction: Congenital disorders of glycosylation (CDG) are metabolic conditions resulting from defects in the glycosylation pathway. In addition to the primary neurological symptoms, other possible clinical findings may include distinctive coagulation abnormalities, as well as hepatic, gastrointestinal and, less frequently, hormonal disorders. The ALG1 gene defect is the third most prevalent CDG and compromises β-1,4 mannosyltransferase activity, which...