ESPE Abstracts

Background: Diabetic autonomic neuropathy (DAN) is predictive for subsequent mortality mainly due to terminal renal insufficiency. DAN is screened by cardiac tests based on heart rate variability (HRV).Aim: To assess cardiac autonomic neuropathy (CAN) and its predictive value for survival in children with Mauriac syndrome.Material and methods: The study included 12 patients with Mauriac syndrome (growth retardation, hepatomegaly an...

Introduction: Systematic newborn screening (NBS) based on 17 ɑ OHP, followed by molecular analysis for the most frequent adrenal enzyme steroid abnormalities in newborns at high risk for congenital adrenal hyperplasia (CAH), allowed to reveal the nature of genotype-phenotype correlations in most of the patients (pts) presented as “classical CAH” – salt wasters (SW) or simple virilizers (SV). According to the enzyme rest activity they co...

Introduction: Adrenal insufficiency is a rare, but potentially fatal medical condition, most frequently congenital in children. Rapid and accurate diagnosis is imperative for effective treatment. A growing number of causative gene mutations in overlapping clinical phenotypes and different syndromes which share adrenal insufficiency as one of the main characteristics were published recently.Case Presentation: An infant (b...