ESPE Abstracts

Background: Childhood-onset obesity is a multifactorial disease with a lifelong health burden. In many cases, obesity is the result of the interaction between genetic predisposition and environmental factors. Aim of our study was to define phenotypic features of obese children and adolescents and to find possible associations between clinical phenotype and genetic variants.Patients and Methods: We recruited obese childre...

Birth chest circumference(CC) shows often, like birth gestational age(GA), tight direct relations to birth body weight(BW). However distinct connections of hypoxia/undernutrition with different body structures might be suspected based on brain-, heart- and adrenal-sparing following intrauterine growth restriction and, postnatally, on higher chest size for body mass observed at high altitude. Growth retarded fetuses gestated by hypoxic pregnant animals may present increments of...

Direct relationships of estimated birth brain weight(BRW) to birth body weight (BW) ratios (BBR) and of BW<=10.th centile for GA(SGA) with blood serum Insulin-like Growth Factor-II(IG2) to blood serum Insulin-like Growth Factor Binding Protein-3 (IB3) ratios (IG2/IB3R), and inverse relations between BW-SDS and birth chest circumference(CC) / BW ratio (i.e., CC through BW; CC/BWR) have been detected by our group in the human newborn(NWB). We evaluated the possibility that CC...

Introduction: Familial Mediterranean Fever (FMF) is an inherited auto-inflammatory disorder still extremely underdiagnosed in the Mediterranean area. The disease is secondary to a gain of function mutation of the MEFV gene, classically defined as “autosomal recessive”, with possible symptoms also in heterozygous patients. The mutation induces a hyperexpression of IL-1 beta and a chronic inflammation. Clinical manifestations are characterized by rec...

Background: The gastrointestinal (GI) tract plays a central role in maintaining energy balance and body weight regulation. These functions are mediated by the secretion of gut hormones, including ghrelin, cholecystokinin (CCK), peptide YY(PYY), oxyntomodulin (OXM) and many other hormones. Some of them are orexigenic hormones that promote food intake, while others act as satiety signals and enhance insulin secretion from the pancreatic beta cells. Current evide...

Introduction: The coronavirus disease 19 (COVID19) pandemic urged to develop new vaccines to reduce the morbidity and mortality associated with this disease. Recognition and report of potential adverse effects of these novel vaccines (especially the urgent and life-threatening ones) is therefore essential.Case Presentation: A 16-year-old boy presented to the Paediatric Emergency Department with polyuria (9 liters per day...

Background: Haploinsufficiency of short stature homeobox containing gene (SHOX) is one of the main monogenic causes of short stature. The phenotype of SHOX deficiency (SHOX-D) is often mild, making difficult to identify which short-statured children should be screened.Objective and hypotheses: To estimate the prevalence of SHOX-D in Italian short-statured children and to analyse their phenotype and the sensitivity of various scores and anthropometric mea...

Background: Nutrition and growth in the postnatal phase seems to have an important role for the future risk of obesity, type 2 diabetes, and cardiovascular diseases. It has been suggested that circulating levels of adiponectin in the first 2 years of life are influenced by type of feeding in small for gestational age.Objective and hypotheses: Aim of our study was to evaluate if total and multimeric adiponectin levels in obese adequate for gestational age...

Introduction: The IGSF1 gene deficiency syndrome (IDS) is an X-linked disorder involving hormonal disfunctions. We report a case of Central Hypothyroidism (CH) due to a Xq26.1q26.2 microdeletion including the IGSF1 gene.Case: this boy was referred to our clinic for thyroid dysfunction. He was born at term by caesarean section due to maternal uterine myoma. Pregnancy was normal, parents were non consangu...

Objective and hypotheses: We studied the prevalence of deficiency in the short stature homeobox containing gene (SHOX) in short-statured children and analysed clinical and radiological signs.Method: A total of 162 children aged 1–17 years (53% females, 67% prepubertal, median age 6.6 years, median height SDS −1.7) presenting with short stature between 2008 and 2014, were analysed for SHOX mutations by direct sequencing and multiplex ligation p...