ESPE Abstracts

Introduction: Klotho is an anti-aging protein that reduces adiposity and increases caloric expenditure, among others. Although associations between secreted α-Klotho levels and obesity have been described, its relationship with central obesity and visceral fat accumulation during childhood is poorly understood. Our objective was to study the longitudinal associations between serum α-Klotho concentrations and obesity parameters in apparently healthy...

Introduction: The CCDC3 gene encodes for a protein expressed in endothelial cells and adipose tissue. Insulin increases its expression and, in turn, CCDC3 positively regulates adipogenesis and lipid accumulation. CCDC3 expression is increased in visceral adipose tissue from subjects with obesity. Gestational obesity can modify the metabolic programming in the offspring through epigenetic mechanisms. However, it is unknown whether the...

Introduction: An increase in liver enzymes predicts cardiac hypertrophy secondary to increased left ventricular mass in patients with cardiovascular disease. The mechanisms involved include decreased adiponectin concentration and increased epicardial fat in these subjects. We hypothesized that associations between these parameters would also be readily apparent in otherwise healthy children.Objectives: Our objective was ...

Background: Infants with Prader-Willi syndrome (PWS) exhibit stunted growth. However, little is known about the role of genes expressed from the imprinted PWS domain in healthy infants. This study aimed to analyze the relative gene expression of the SNURF-SNRPN/UBE3A cluster in the imprinted PWS domain in umbilical cord tissue, and its potential association with prenatal and postnatal growth in apparently healthy infants.Methods:...

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...

Insulinoma is a rare neuroendocrine tumor, usually benign, but can be life-threatening in causing hypoglycemic accidents. It presents in individuals aged between 8 and 82 years and can occur sporadically or constitute a part of multiple endocrine neoplasia type 1 (MEN-1).The nonspecific-symptoms and small size of these tumors led to difficulties of diagnosis and localization.Here we describe the case of a 11-year-old boy, who came to our attention for a ...

Turner syndrome (TS) patients are at risk for a constellation of neurocognitive and psychosocial diseases. TS is associated with an increased risk for difficulties with visual–spatial reasoning, visual–spatial memory, attention, executive functioning, motor, and math skills. Additionally, increased rates of social difficulties, anxiety, and depression are observed.Here we report the case of a 16-years-old Caucasian girl who came to our attentio...

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: Abnormalities of cervical spine have been described in association with pituitary anomalies in the context of malformative syndromes with midline defects. Several genes are involved in the control of pituitary gland development, differentiation and function. In particular, the presence of os odontoideum has been reported in one case of pituitary hypoplasia, associated with leg anomalies, renal dysplasia and no aberrations of the BMP4, BMP2 and PTX1 genes. In anothe...

Background: Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal-Distrophy (APECED) is a rare autosomal recessive disease, caused by mutations of AIRE gene on chromosome 21. It is characterized by three main diseases: chronic mucocutaneous candidiasis (CMC), chronic hypoparathyroidism (HP) and Addison’s disease (AD).Objective and hypotheses: In this paper we review the clinical phenotypes and the genotypes of pediatric Sicilian population affected b...