ESPE Abstracts

Background: Diencephalic syndrome (DS) is a rare disorder of severe emaciation classically associated with infantile Hypothalamochiasmatic low-grade gliomas (HCLGGs) and GH excess. However, diagnostic criteria remain undefined and published literature includes non-specific tumour-related cachexia. In a large optic pathway LGG cohort (n=166), we have previously demonstrated that DS independently predicts multiple tumour progressions and severe endocrine morbidity.<...

Introduction: The Covid-19 pandemic drastically modified social life and lifestyle in particular among children and adolescents, promoting sedentary behaviors and unhealthy eating habits. In this scenario, the effectiveness of the outpatient approach for pediatric obesity may decrease.Objectives: Aims of this study were to assess the rate and the factors associated with outpatient drop-out by comparing two groups of chil...

Background: systematic data about endocrinopathies in Rett syndrome (RTT) patients are still scarce and not univocal.Objective: to assess the prevalence of endocrinopathies in a pediatric population of RTT patients.Design: retrospective observational single center study.Methods: 29 caucasian patients (28 girls,1 boy) with genetically confirme...

Background: in general population Hurthle cell cancer (HCC) accounts for 3-7% of all differentiated thyroid cancers (TC) with a more aggressive course, while its relative prevalence and behavior in childhood is uncertain due to the lack of specific literature reviews.Objective: to describe the largest pediatric HCC cohort to date reported and to estimate its relative prevalence among TC variants in childhood.<p c...

Background: About 85–90% of children born small for gestational age (SGA) experience a catch-up growth that occurs mostly during the first year of life and results in a full stature recovery by the age of 2. The remaining 10–15% do not undergo compensatory growth, achieving - if untreated - an adult height approximately 20 cm below their peers.Objective: The aim of this prospective one-center study was to investigate the relation between bone m...

Background: Oligo-ovulatory androgen excess in women (polycystic ovary syndrome (PCOS) by NIH definition) is a major cause of subfertility and relates to hepatic steatosis, independently of obesity.Objective: To test whether early treatment of PCOS affects subsequent ovulation rate.Method: Adolescent girls with hyperinsulinemic androgen excess – a subgroup of PCOS – (mean age 16 year; BMI 23.7 kg/m2) randomly r...

Background: Fetal growth is partly regulated by epigenetic factors, such as DNA methylation. Altered methylation status in placental genes relates to gestational diabetes, preeclampsia and prematurity. However, the epigenetic mechanisms underlying fetal growth restraint in uncomplicated pregnancies remain unknown.Objective and hypotheses: We aimed at identifying new candidate genes related to fetal growth, by assessing DNA methylation profiling in placen...

Background: Congenital hyperinsulinism (CHI; MIM #256450) is the most common cause of persistent hypoglycaemia in children. Recessive inactivating mutations in KATP channel subunits, encoded by ABCC8 and KCNJ11 genes, are the most common cause of CHI. Mutations of these genes usually cause forms of CHI which in the vast majority of patients are unresponsive to first line medical treatment with diazoxide. Multiple daily standard octreotide injections combine...

Background: Prenatal growth restraint associates with risk for later diabetes particularly if such restraint is followed by postnatal formula-feeding (FOF) rather than breast-feeding (BRF). Circulating incretins can influence the neonatal programming of hypothalamic setpoints for appetite and energy expenditure, and are thus candidate mediators of the long-term effects exerted by early nutrition.Objective, hypotheses and method: We have tested this conce...

Background: Infants born small-for-gestational age (SGA) who develop postnatal weight catch-up are at risk for insulin resistance, central adiposity and cardiovascular disease in later life, even in the absence of overweight.Objective and hypotheses: In young (age 3–6 years) non-obese SGA children, we assessed arterial health by intima-media thickness (IMT) and abdominal fat distribution (subcutaneous, visceral, pre-peritoneal and hepatic components...