ESPE Abstracts

Background: It is well known that ingestion of a high fat diet (HFD) can induce rapid weight gain and metabolic imbalances. However, males and females are not equally susceptible to these effects. Furthermore, an individual may be more prone to gain weight during specific developmental periods.Aims and objectives: We aimed to analyse the response to the acute exposure to a HFD during pubertal/adolescent period and to determine whether males and females r...

Background: Sotos syndrome is characterized by overgrowth. The four mayor criteria for diagnosis are: overgrowth (accelerated bone age), macrocephaly, characteristic facial features and developmental delay. They can also present escoliosis, heart or genitourinary disease, seizures, hypotonia, cerebral malformations, feeding difficulties, hearing loss and a greater risk of tumours.Case report: A 10 months old girl was referred for overgrowth. BW and BL wa...

Background and Aim: Vertebral fractures (VF) in children with acute lymphoblastic leukemia (ALL) are often symptomatic and impairing life quality. Prevalence of children with VF at ALL diagnosis has been reported as 16% with peak incidence occurring during the first year after diagnosis and a 6-year cumulative incidence of 32.5%. Moreover, only 15.8% of these patients will have vertebral reshaping 24 months after ALL diagnosis. Additionally, 23% of ALL survivo...

Introduction: Both the innate and adaptive immune responses are deregulated in individuals with obesity and are a key driver of its associated metabolic alterations. Although the anti-inflammatory growth differentiation factor 15 (GDF-15) is a candidate protein against obesity, its mechanisms regulating the immune responses are not fully understood.Methods: We examined whether serum GDF-15 was related to serum levels of ...

Background: Cardiovascular diseases are the leading cause of premature death among women with Turner syndrome (TS). Studies in youth with TS suggest that cardiometabolic-related dysfunction is present in childhood, however these small convenience samples may not be generalizable to the whole TS population. PEDSnet, the largest pediatric Health Learning System in the United States (US) representing >6 million children, offers a unique opportunity to examine ...

Noonan syndrome is a genetic condition caused by dysregulation of RAS-MAPK pathway (RASopathy) characterized by great clinical variability and genetic heterogeneity. Many genes has been associated with the disease, including recently LZTR1, which is causative of both dominant and recessive forms. Currently less than one hundred cases of Noonan syndrome has been associated with LZTR1 variants then phenotype related to this gene is poorly known. Here we describ...

Mitochondrial diseases are multisystemic disorders which often involve endocrine system, as defective oxidative phosphorylation can lead to decreased hormones production or secretion and all steroid hormones are synthesized in the mitochondria. Endocrine dysfunctions can therefore represent the initial symptoms of these pathologies and the incidence of various endocrinopathies varies between different mitochondrial disease. Diabetes mellitus is the most frequently described en...

Background: Disorders of Sex Development (DSD) are a rare disease often caused by complex genetic mechanisms, with a wide spectrum of clinical manifestations that lead to a continous evolution of the diagnostic classification. From 2002, In the Veneto Region, all DSD diagnoses have been collected thanks to the creation of a Registry for Rare diseases, including DSD.Material and Methods: We could retrospectively analyze t...

The Flash glucose monitoring System(FGMS) is a system of measurement of the interstitial glucose levels in real time, safe, effective and doesn´t require calibration. Its low cost has allowed to be approved for all children under 18 years old by our Regional Health Service.Objective: To assess the impact during this first year of use of FGMS in all children diagnosed with type 1 diabetes who previously used the classic method of cap...

Background: Erythrocytosis is characterized by increased number of red blood cells. Primary form is also known as polycythemia vera, while secondary forms can be due to several causes, among which hyperandrogenism. Although the association of severe hyperandrogenism and polyglobulia is known, literature data concerning this comorbidity are overall scanty, and completely lacking in pediatric age.Case report: We report the history of a 14 years-old girl ad...