hrp0086fc4.5 | Pathophysiology of Obesity | ESPE2016

Novel Association between the Non-synonymous A803G Polymorphism of the N-acetyltransferase 2 Gene and Impaired Glucose Homeostasis in Obese Children and Adolescents

Marzuillo Pierluigi , Grandone Anna , Di Sessa Anna , Umano Giuseppina Rosaria , Cirillo Grazia , Perrone Laura , del Giudice Emanuele Miraglia

Background: The N-acetyltransferase 2 (NAT2) A803G polymorphism leading to substitution of lysine to arginine at residue 268 and codifying for a cytosolic enzyme catalysing acetyl-CoA-dependent N- and O-acetylation reactions, has been associated with decreased insulin sensitivity in a large adult population with the A allele associated with insulin resistance (IR)-related traits.Objective and hypotheses: We screened for this polymorphism, for th...

hrp0084p3-838 | Fat | ESPE2015

Bioavailable Vitamin D in Obese Children: The Role of Insulin Resistance

Grandone Anna , Del Giudice Emanuele Miraglia , Cirillo Grazia , Di Sessa Anna , Umano Giuseppina , Marzuillo Pierluigi , Capristo Carlo , Perrone Laura

Background: Studies examining vitamin D levels in association with childhood obesity usually do not concurrently measure levels of vitamin D-binding protein and do not calculate the unbound, bioavailable vitamin D, that is considered the fraction of 25-hydroxyvitamin D able to exert biological activity.Objective and hypotheses: To evaluate in a group of children for the most part obese i) the concentrations of both total 25-hydroxyvitamin D and of the bi...

hrp0092p1-45 | Fat, Metabolism and Obesity | ESPE2019

Non-Alcoholic Fatty Liver Disease and eGFR Levels could be Linked by the PNPLA3 I148M Polymorphism in Obese Children

Di Sessa Anna , Marzuillo Pierluigi , Guarino Stefano , Capalbo Daniela , Rosaria Umano Giuseppina , Pedulla' Marcella , La Manna Angela , Cirillo Grazia , Miraglia Del Giudice Emanuele

Background: The patatin like phospholipase containing domain 3 (PNPLA3) I148M polymorphism has an effect on modulation of estimated glomerular filtration rate (eGFR) in non-obese non-diabetic adults and in children with histologically confirmed Non-Alcoholic Fatty Liver Disease (NAFLD).Objectives: To explored the impact of PNPLA3 I148M polymorphism on eGFR in obese children with and without NAFLD.<p class="a...

hrp0095fc11.2 | Late Breaking | ESPE2022

The influence of Non-Alcoholic Fatty Liver Disease and of its genetics on thyroid function in children with obesity

Di Sessa Anna , Cembalo Sambiase Sanseverino Nicoletta , Maddalena Marrapodi Maria , Rosaria Umano Giuseppina , Cirillo Grazia , Marzuillo Pierluigi , Miraglia del Giudice Emanuele

Background: The patatin-like phospholipase domain-containing protein 3 (PNPLA3) I148M and the transmembrane 6 superfamily member 2 (TM6SF2) E167K polymorphisms have been recognized as the major risk polymorphisms for Non-Alcoholic Fatty Liver Disease (NAFLD). Data supported a close relationship of NAFLD with thyroid function both in adults and children. To investigate the influence of NAFLD and of its genetics on thyroid function.<p class...

hrp0095p1-242 | Diabetes and Insulin | ESPE2022

The lncOb rs10487505 polymorphism impairs insulin sensitivity and glucose tolerance in children and adolescents with obesity

Rosaria Umano Giuseppina , Cirillo Grazia , Rondinelli Giulia , Vittoria Foderini Maria , Ferrara Serena , Di Sessa Anna , Marzuillo Pierluigi , Santoro Nicola , Miraglia del Giudice Emanuele

Purpose: Leptin plays a key role in the regulation of body weight and other endocrine systems. Recently, impairment of leptin gene transcription due to genetic variations in a long-noncoding RNA, also referred as lncOb, has been described in mice. In humans, a correspondent polymorphism (rs10487505) has been associated with relatively low plasmatic leptin levels compared to obesity severity and with early obesity onset.Objectives...

hrp0095p1-561 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

A new DLK1 defect in a family with idiopathic CPP: elucidation of the male phenotype

Palumbo Stefania , Cirillo Grazia , Sanchez Gianmaria , Fachin Alice , Baldo Francesco , Grazia Pellegrin Maria , Cassio Alessandra , Carolina Salerno Maria , Maghnie Mohamad , Felicia Faienza Maria , Wasniewska malgorzata , Fintini Danilo , Giacomozzi Claudio , Ciccone Sara , Miraglia Del Giudice Emanuele , Tornese Gianluca , Grandone Anna

Introduction: Central precocious puberty (CPP) is due to premature activation of the hypothalamic-pituitary-gonadal axis. Mutations in the imprinted gene MKRN3 are the most common monogenic form of CPP. Recently, attention was directed to DLK1, another imprinted gene. Defects in this gene resulted to be a rare cause of CPP in girls and adult women with precocious menarche, obesity and metabolic derangement. We aimed to investigate a cohort of female and male p...

hrp0094p1-173 | Growth Hormone and IGFs B | ESPE2021

Growth hormone receptor 6Ω pseudoexon activation: a novel cause of severe growth hormone insensitivity

Cottrell Emily , Maharaj Avinaash , Williams Jack , Chatterjee Sumana , Cirillo Grazia , Giudice Emanuele Miraglia del , Festa Adalgisa , Palumbo Stefania , Capalbo Donatella , Salerno Mariacarolina , Pignata Claudio , Savage Martin O. , Schilbach Katharina , Bidlingmaier Martin , Hwa Vivian , Metherell Louise A. , Grandone Anna , Storr Helen L. ,

Context: Severe forms of growth hormone insensitivity (GHI) are characterised by extreme short stature, dysmorphism and metabolic anomalies. They are classically caused by homozygous or compound heterozygous mutations of the growth hormone receptor gene (GHR). Genetic analysis traditionally focuses on the exonic regions of genes that encode proteins rather than the intervening non-coding sequences. These seldom explored non-coding regions may harbour ...

hrp0084p2-510 | Pituitary | ESPE2015

Chronic Inappropriate Antidiuresis in Childhood: Experience with Tolvaptan

Gaudino Rossella , Piona Claudia , Morandi Grazia , Cavarzere Paolo , Brugnara Milena

Background: The syndrome of inappropriate antidiuresis (SIAD) is one of the most common causes of hyponatremia: it’s a disorder of sodium and water balance, characterized by urinary dilution impairment and hypotonic hyponatremia, in the absence of renal disease or any non-osmotic stimulus, able to induce antidiuretic hormone (ADH) release. SIAD can be manifestation of a wide range of diseases, including cancer, head trauma, hydrocephalus and epilepsy. Usually transient an...

hrp0084p1-30 | Diabetes | ESPE2015

A Novel Mutation in the abcc8 Gene Causing a Variable Phenotype of Impaired Glucose Metabolism in the Same Family

Maines Evelina , Hussain Khalid , Flanagan Sarah E , Ellard Sian , Piona Claudia , Morandi Grazia Grazia , Ben Sarah Dal , Cavarzere Paolo , Antoniazzi Franco Franco , Gaudino Rossella

Background: Dominantly acting loss-of-function mutations in the ABCC8 gene, encoding the sulfonylurea receptor 1 (SUR1) subunit of the β-cell potassium channel (KATP), are usually responsible for mild diazoxide-responsive congenital hyperinsulinism (CHI). In rare cases dominant ABCC8 mutations can cause diffuse diazoxide-unresponsive CHI. Recent reports suggest that medically responsive CHI due to a dominant ABCC8 mutation may confer an increase...

hrp0092p3-244 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Four-Year Experience of a New Referral Center for Gender Non-Conforming Children and Adolescents in North-East of Italy

Tornese Gianluca , Roia Anna , Cosentini Dora , Morini Giovanna , Di Grazia Massimo , Carrozzi Marco , Barbi Egidio

Objectives: To describe the patients with gender non-conforming referred to a pediatric medical center after creation of the multidisciplinary team "APEVAGE" (Ambulatorio Pediatrico per la Varianza di Genere, Pediatric Clinic for Gender Variance) composed by pediatric endocrinologist, psychologist and child psychiatrist at Institute for Maternal and Child Health "Burlo Garofolo" in Trieste. It is one of the 8 centers recognized by ONIG (Osserva...