ESPE Abstracts

Background: Noonan syndrome (NS) is a rare genetic disease characterized by facial dysmorphism, short stature, heart defects, chest deformities, and variable developmental delay/learning disabilities. Almost 80% of patients have a mutation in the genes encoding components of the RAS/MAPK pathway. Puberty was described as delayed in NS patients, but few studies are focusing on this subject and genotype-phenotype correlations so far.<s...

Background: Noonan syndrome (NS) is a frequent autosomal dominant disorder characterized by facial dysmorphisms, heart defects, short stature and learning disabilities. It is caused by mutations in genes within the RAS/MAPK signaling pathway, thus called RASopathies. The RAS/MAPK pathway can also impact the signal transduction of hormones involved in body weight, carbohydrate, and lipid metabolism features scarcely studied only in animal models. This study aimed to describe me...

Introduction: Extrauterine growth retardation is a common characteristic among children born at very low birth weight (VLBW). Over time, recombinant human growth hormone (rhGH) has been used in this group based on indications for children born small for gestational age (SGA). However, this group represents an extreme phenotype to the majority of children born SGA, and data on the outcomes of this therapy in this group are limited.<strong...