ESPE Abstracts

Introduction: Previous studies showed that non-obese children and adults with Prader-Willi syndrome (PWS) have a low frequency of metabolic syndrome (MetS), while obese ones have a frequency similar to that of non-PWS obese. It is known that individuals born small for gestational age (SGA) have a greater predisposition to the development of MetS. Recent neonatal percentiles of subjects with PWS (Salvatoni et al, Am J Med Genet Part A, 2019) documented...

Background: Non-alcoholic fatty liver disease (NAFLD) represents a spectrum of clinicopathological conditions frequently discovered in obese patients and characterized by multifactorial pathogenesis. Hypoadiponectinaemia and higher interleukin (IL)-6 levels has been related to NAFLD, even if some contradictory findings have emphasized our incomplete understanding of the role of the cytokines in NAFLD.Objective and hypotheses: To investigate the relations...

Mosaic variegated aneuploidy (MVA) syndrome represents a rare autosomal recessive disease characterized by aneuploidies with gain and loss of multiple chromosomes. We describe case of two Moroccan brothers with MVA2, due to CEP57 mutations. Patients are 17 and 13-year-old male siblings of a Moroccan healthy consanguineous couple. Oldest brother was delivered at 35 gestational weeks after IGR diagnosis, small for gestational age (SGA, 1300 grams, -3 SDS). Younger patient’...

Introduction: Pediatric obesity (PO) is associated with hormonal dysfunctions contributing to an increased risk of cardiovascular disease and diabetes. Among these risks, thyroid disfunctions (TD) are the most common. The ethio-pathogenetic mechanisms underlying TD are not well known and include an adaptive response to a higher energy intake, hyperleptinemia, peripheral resistance to thyroid hormones, increased pro-inflammatory cytokines. Pediatric prevalence ...

Introduction: Many evidences confirmed that hyperuricemia is connected with obesity, insulin resistance, type 2 diabetes and cardiovascular risk, not only among adults. Uric acid (UA) interacts with other factors in the modulation of obesity and its complications, since childhood. The study aims to identify any correlations between AU plasma concentrations and the clinical/laboratory data of a group of obese Italian children living in the province of Salerno, ...

Introduction: The role of gamma-glutamyl transferase (GGT) enzyme as a marker of insulin resistance (IR) in pediatric obesity is well known. Recent evidence, mainly in the adult population, has identified GGT/High-Density Lipoprotein (HDL) ratio as a risk index for hepatic steatosis. The study has the purpose of examining the relationship between GGT, GGT/HDL ratio and the clinical/laboratory data of a group of obese Italian children living in the province of ...

Introduction: Pediatric obesity (PO) if not adequately identified and addressed, leads to significant chronic diseases in adulthood. The anthropometric methods for the evaluation of PO have limitations well described in the literature. Neck circumference (NC) is recently proposed as parameter for better identification and evaluation of PO. We verified the relationship between NC, body mass index (BMI), waist circumference (WC) and some laboratory parameters of...

Objectives: Pediatric obesity (PO) leads in adulthood to chronic high-risk pathologies, if not adequately identified and addressed. The anthropometric methods for evaluating PO have well-described limits. One of the most recently proposed indexes to better locate and evaluate PO is the neck circumference (NC). We have verified the relationship between NC, body mass index (BMI), waist circumference (WC) and some laboratory parameters, with the aim of defining t...

Background: Diencephalic syndrome (DS), diencephalic cachexia or Russell syndrome, is a rare, rapidly fatal condition, usually occurring during the first year of life, as a result of a hypothalamic dysfunction due to hypothalamic/chiasmatic tumors. Clinical features of DS are weight loss leading to cachexia despite a normal caloric intake and growth rate, hyperalertness, hyperkinesis, and euphoria. Treatment is related to treatment of the hypothalamic lesion. The role of cytok...

Background: The normal recovery of the hypothalamic–pituitary–gonadal axis after discontinuation of therapy with GNRH analogue for precocious puberty has been proven and documented in the last decades. There has been no report in the literature of patients in which a history of GNRH treatment of precocious puberty is correlated with premature ovarian failure.Objective and hypotheses: The aim of the authors is to evaluate the possibility of a co...