ESPE Abstracts

Background: Despite the metabolic syndrome in pediatrics is a well recognized entity, there is no unanimous consensus on exact value of MS to predict long-term cardiovascular risk. Hepatic Steatosis (HS) is another emerging condition associated to pediatric obesity.Objective and hypotheses: To evaluate the prevalence of MS in a large pediatric obese population, assess the relationship between MS and HS, and evaluating the possible role of HS in defining ...

Introduction: Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disease characterized by ACTH-resistant isolated cortisol deficiency. FGD usually presents with hypoglycemia, convulsions, prolonged jaundice, and marked skin hyperpigmentation in the early period of life. Several defects in MC2R, MRAP, MCM4, NNT, and TXNRD2 genes are related to FGD. In all these situations, plasma ACTH is high. By contrast, all reported cases of glucocorticoi...

Obesity is increasing, and the related complications are well known. Clinical Trials related with specific diets are currently lacking in paediatrics. There is an increasing interest in Mediterranean diet (MD). The Med4Youth European study* has enrolled 240, 13- to 16-year-old subjects with a BMI above the 90th percentile(WHO curves) in a multicenter randomized controlled trial (Italy, Spain and Portugal) to evaluate the effects of MD. We present the data relative to the 80 su...

Background: Recent studies have found a widespread deficiency of vitamin D during pregnancy. Its significance is still not fully understood, although low Vit-D levels have been associated to increased risk for conditions such as preeclampsia, bacterial vaginosis, neonatal sepsis, and early respiratory infections in the child. Supplementation to the pregnant mother is still a matter of debate, therefore it is important to understand better the causes, risk factors, and possible...

Background: Type 1 diabetes (T1D) has great psychological impact on adolescents and family’s lifestyle. It influences their perception of their quality of life (QOL), their metabolic control, and it may lead to future complications.Objectives: Identify how QOL affects on T1D adolescents and its relation to metabolic control.Methods: This is a retrospective study of 55 adolescents with T1D. Diabetes impacts patients’ conce...

Background: IGF1 is essential for pre and postnatal growth. Mutations in IGF1 receptor (IGF1R) gene have been described in patients with intrauterine growth retardation and other anomalies.Objective and hypotheses: To study IGF1R gene in small for gestational age (SGA) patients with short stature and correlate the results with clinical presentation and response to rhGH treatment.Method: Longitudinal retrospective study of 69 SGA pa...

Background: In type 1 diabetes (T1D) adolescents it is necessary to design effective interventions to take care of their health and psychological problems. This leads to effective transition to an adult unit.Objectives: Evaluate the relationship of lifestyle with metabolic control in diabetic adolescents.Methods: Retrospective study of 42 T1D adolescents managed in a Pediatric Diabetes Unit. Patients completed a questionnaire on li...

Objectives: - To establish the main factors on which a good response to GH treatment depends. - To study the optimum adherence values. - To study the impact of the loss of adherence in the treatment with GH.Materials and Methods: This is a non-interventional, retrospective observational study, by reviewing medical records of patients undergoing GH treatment for at least 2years due to GHD or SGA. Patients received treatment with Saizen&#1...

Background and Aims: Retesting subjects treated with GH throughout childhood at attainment of final height is of importance to identify those having pGHD and needing replacement treatment during transition years and adulthood, and to avoid overtreatment of GH sufficient subjects. This study aimed at evaluating the clinical and biochemical features of patients diagnosed of isolated idiopathic (II) GHD in childhood at retesting to verify the prevalence of perman...

MOPD is known to be caused by homozygous loss-of-function mutations in a specific gene, PCNT. Both intra- and interfamilial clinical variability (even for the same variant) have been frequently observed, which makes it difficult to infer a genotype–phenotype correlation. Pericentrin (PCTN) is a structural protein expressed in the centrosome that plays a fundamental role in anchoring protein complexes, regulating mitotic cycle and thus cell proliferation. High levels of m...