ESPE Abstracts

Background: Young children affected by Type 1 Diabetes (T1D) are prone to glucose fluctuations and hardly reach a stable glycometabolic control, especially when treated with a Multiple Daily Insulin Injections (MDI) scheme. The recent Real-Time Continuous Glucose Monitoring (RT-CGM) System, Dexcom G5, the only available device registered for non-adjunctive insulin intervention, potentially facilitates a better management of the disease. Evidence regarding CGM effectiveness amo...

Background: The treatment of high-risk neuroblastoma still represents a clinical challenge in pediatric oncology. About 50% of children survive after a multimodal treatment based on conventional and high dose chemotherapy, surgery, radiotherapy, differentiating treatment and immunotherapy.Aim: To evaluate endocrine long-term sequels in a pediatric cohort with high-risk neuroblastoma.Patient...

Background: In Italy monogenic forms of hyperglycemia account for more than 6% of cases referred to pediatric diabetes clinics. In January 2019 we started a Monogenic Diabetes Clinic (MDC) with the three main aims: a) implementing a standardized pathway towards genetic testing, 2) ease the revision of complex cases, 3) implement standardized therapies for monogenic diabetes mellitus (MDM) subtypes.Methods: Type 1 diabete...

We report and discuss a case of a girl who at birth underwent surgery for Hirschsprung Disease (HD). To closely investigate her condition, we used a Next Generation Sequencing (NGS) panel to carry out a study of some of the genes known as being associated with congenital megacolon (PHOX-2B, RET, EDN3, GDNF, ASCL1 and BDNF). This analysis showed a maternally inherited heterozygous variant in the RET protooncogene (c.734T>A, p.Val245Glu), which is not described in the scienti...

Background: The increasing incidence of obesity is a serious global public health challenge. Endocrine disrupting chemicals (EDCs) are exogenous chemicals that interfere with the endocrine system, including adipose tissue. Increasing evidence from epidemiological, animal, and in vitro studies shows that EDCs, in particular bisphenol A (BPA) and phthalates (e.g. di-ethyl-hexyl-phthalate, DEHP), can affect body weight, adipogenesis and circulating lipid profile,...

Background: Over the past several decades, the age of pubertal onset in girls has shifted downward worldwide. Several factors including genetic predisposition, psychosocial and socio-economic conditions, diet and ethnicity may have contributed to this phenomenon. Epidemiological and animal studies have shown that the exposure to BPA and DEHP may be associated with early onset of puberty in girls.Objective: To investigate...

Background: The increasing incidence of obesity is a global public health challenge. Although energy imbalance is the major cause of obesity, evidence suggests that other risk factors such as exposure to endocrine-disrupting chemicals (EDCs) may contribute to the development of obesity. Early life exposure to obesogens may result in a higher risk of developing obesity. Among the chemicals suspected to have obesogenic effects, bisphenol A (BPA) and phthalates are under worldwid...

Background: Over the past several decades, the age of pubertal onset in girls has shifted downward worldwide. Exposure to endocrine disrupting chemicals (EDCs) during critical windows of development may play a role in this trend. Epidemiological and animal studies showed that exposure to phthalates and BPA could be associated with earlier puberty onset in girls.Objective: To investigate the association between the exposure to BPA, DEHP’s metabolites...

Background: Polybrominated diphenyl ethers (PBDEs) are widely used as flame retardants and have shown endocrine disruption properties in experimental studies. Preliminary studies in animal models have suggested a link between exposure to PBDE and alterations of puberty and reproduction.Objective and hypotheses: To investigate the association between the exposure to PBDEs and alterations of puberty in girls, referred for idiopathic premature thelarche (IP...

Noonan syndrome (NS) is an autosomal dominant, variably expressed, multisystem disorder with an estimated prevalence of 1 in 1000–2500. In 2001, PTPN11 was the first gene associated to Noonan syndrome; now, at least 20 other genes have been discovered especially in the RAS–MAPK signalling pathway. More recently, missense mutations in RIT1 have been reported as causative of NS. A six-years female patient was referred to our Hospital for short stature (<-2 sds) an...