ESPE Abstracts

Objectives: The increased incidence of childhood obesity and related non-alcoholic fatty liver disease (NAFLD) has determined the need to identify a non-invasive technique to diagnose and monitor NAFLD. Two-dimensional shear wave elastography (2D-SWE) has emerged as a reliable, non-invasive, tool to evaluate liver tissue elasticity in clinical practice. Aims of this study were to longitudinally evaluate 2D-SWE changes in relation to weight loss, metabolic prof...

Background: due to its recently documented role in intercellular tight junction disassembly, zonulin has emerged as a valuable biological marker to assess the integrity of the intestinal mucosal barrier. Experimental studies have shown an association between intestinal permeability and obesity.Objectives: aim of this study was to investigate the relationship between serum zonulin levels, both at baseline and postprandial...

Objective: to assess the prevalence of endocrinopathies in a pediatric population of Rett syndrome (RTT) patients.Design: retrospective observational double center study.Methods: 51 caucasian patients (47 girls, 4 boy) with genetically confirmed diagnosis of RTT were enrolled (mean age: 9.65±5.9 years, range: 1-18 years). The patients were referred from the Rett Center of two It...

Background: Thyroid nodules in children are less common than in adult but are about two-to three-fold at risk of being malignant compared to adults. Plummer's adenoma is a very rare occurrence in pediatrics; there is no literature evidence of this diagnosis in Prader-Willi Syndrome (PWS).Case Presentation: A 9-year-old boy, followed at our Pediatric Endocrinology Outpatients Clinic for PWS (maternal uniparental diso...

Background: “Carney complex” is an autosomal dominant inheritance extremely rare genetic syndrome, usually determined by PRKAR1A (17q22-24) gene mutations. The clinical picture is characterized by speckled skin pigmentation; cardiac, cutaneous and mammary myxomas; schwannomas; endocrinopathies (acromegaly, Cushing syndrome due to primary pigmented nodular adrenocortical disease) and tumors of the endocrine glands.Case...

Background: Distal chromosome 16 duplication syndrome, also known as 16q partial trisomy, is a very rare genetic disorder. Smaller chromosomal copy number variants (CNVs) within the 16q region create partial trisomies, which occur less frequently than full trisomy 16q. Trisomy 16q is generally associated with a multisystemic phenotype including intrauterine growth restriction (IUGR), brain and cardiac defects, intellectual disability and an increased risk of b...

Introduction: Familial male-limited precocious puberty (or testotoxicosis) is a very rare genetic disorder with autosomal dominant transmission that causes gonadotropin-independent precocious puberty due to mutations activating the lutropin-chorionic gonadotropin receptor (LHCGR), which lead to elevated testosterone levels and suppressed gonadotropins. The age of onset is between 2-5 years essentially with penis and testes enlargement, linear growth accelerati...

Background: due to the well-known association between intestinal permeability and obesity, zonulin has been recently proposed as an indicator of intestinal mucosal barrier integrity. Nevertheless, data about zonulin are extremely scarce in pediatric age.Objectives: aim of this study was to investigate the relationship between serum and faecal zonulin levels with body mass index (BMI) and biochemical markers of insulin re...

Background: SET domain-containing 5 (SETD5) is a member of the protein lysine-methyltransferase family that regulates gene expression. SETD5 gene mutations cause disorders of the epigenetic machinery which determinate phenotypic overlap characterized by several abnormalities. Recently, SEDT5 gene variants have been described in patients with KBG and Cornelia de Lange syndromes. Pathogenic variants of SETD5 gene are primarily associated with intellectual delay ...

Introduction: Non-nutritional rickets forms are often unrecognized. A late diagnosis could negatively affect the outcome. The aimof this study is to identify peculiar clinical and biochemical signs at the onset of non-nutritional rickets to promote early diagnosis.Materials and Methods: A retrospective monocentric observational study was conducted on a sample of outpatients consecutively evaluated at the pediatric endocr...