hrp0092p1-354 | Fat, Metabolism and Obesity (2) | ESPE2019

Association Between Adiposity Measures and Metabolic Variables in Children and Adolescentswith Obesity

Umano Giuseppina Rosaria , Di Sessa Anna , Cirillo Grazia , Ursi Davide , Marzuillo Pierluigi , Miraglia Del Giudice Emanuele

Childhood obesity has become a major health issue in the last decades. Moreover, identifying a simple, feasible, and valid screening tool to select subjects at higher risk for obesity-related comorbidities has become a challenge. Current guidelines reccommend to use BMI percentile for overweight and obesity diagnosis. However, waist-to-height ratio (WHR) has been associated with the risk of metabolic derangement in children and adolescents with overweight and obesity. In addit...

hrp0089p1-p129 | Fat, Metabolism and Obesity P1 | ESPE2018

Early Menarche is Associated with Insulin Resistance and Non-Alcoholic Fatty Liver Disease in Obese Adolescents

Di Sessa Anna , Grandone Anna , Marzuillo Pierluigi , Miraglia del Giudice Emanuele

Background: Menarche is a significant event in the reproductive life of a woman and represents the late event in puberty indicating that a sexually immature child has become reproductively capable. Even though the timing of puberty onset is approximately conserved in different populations, the puberty starts across a wide range of ages in normal girls. However, in the last decades we are observing that girls are experiencing earlier breast development and earlier menarche, als...

hrp0092fc4.4 | Fat Metabolism and Obesity Session | ESPE2019

The rs72613567:TA Variant in the Hydroxysteroid 17-beta Dehydrogenase 13 Gene Reduces Liver Damage in Obese Children

Sessa Anna Di , Rosaria Giuseppina , Cirillo Grazia , Marzuillo Pierluigi , Arienzo Maria Rosaria , Pedulla' Marcella , Miraglia Del Giudice Emanuele

Background: The rs72613567:TA variant in the hydroxysteroid 17-beta dehydrogenase 13 (HSD17B13) gene has been associated with decreased risk of liver damage.Aims: To investigate the association between the HSD17B13 rs72613567:TA variant and both hepatic steatosis and biochemical markers of liver damage in obese children and to evaluate its potential effect in NAFLD genetic predisposition.<p...

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...

hrp0084p1-91 | Growth | ESPE2015

Mutation in RTTN, a Regulator of Ciliary Function, Causes a Complex Syndrome Characterized by Severe Congenital Microcephaly, Lissencephaly and Profound Growth Failure in Two Siblings

Grandone Anna , Nigro Vincenzo , Torella Annalaura , Festa Adalgisa , Luongo Caterina , Marzuillo Pierluigi , Coppola Ruggero , del Giudice Emanuele Miraglia , Perrone Laura

Background: Primordial dwarfism (PD) is a phenotype characterized by profound growth retardation and microcephaly that is prenatal in onset. Recently mutations in genes involved in ciliogenesis have been described in patients with primordial dwarfism phenotype. In 2012 mutations in rotatin (RTTN), a protein involved in cilia structure and function, have been described in in individuals with bilateral diffuse polymicrogyria, but not growth failure.Case pr...

hrp0084p2-540 | Puberty | ESPE2015

A Case of Familial Central Precocious Puberty Caused by a Novel Mutation in the Makorin RING Finger Protein 3 Gene

Grandone Anna , Cantelmi Grazia , Marzuillo Pierluigi , Cirillo Grazia , Luongo Caterina , Micillo Flora , Giudice Emanuele Miraglia del , Perrone Laura

Background: Central precocious puberty (CPP) is often familial but its genetic cause is largely unknown. Very recently, the makorin RING finger protein 3 (MKRN3) gene, located on chromosome 15 in the Prader-Willi syndrome (PWS)-associated region (15q11-q13), has been found mutated for the first time in five families with familial precocious puberty, with a peculiar kind of transmission. In fact, it is an imprinted gene which is expressed only if transmitted from the father. 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...

hrp0095rfc11.3 | Late Breaking | ESPE2022

Predictors of kidney damage development in children with metabolically healthy and metabolically unhealthy obese phenotypes

Di Sessa Anna , Paride Passaro Antonio , Maria Colasante Alberto , Ferrara Serena , Rosaria Umano Giuseppina , Marzuillo Pierluigi , Miraglia del Giudice Emanuele

Background: A close association has been reported between obesity and renal damage in adults, but evidence in childhood is still limited.Methods: We retrospectively studied 396 children and adolescents with obesity. Clinical, biochemical, and instrumental evaluations were performed. Patients were stratified according to the metabolically healthy obesity (MHO) and metabolically unhealthy obesity (MUO) phenotypes. Kidney d...

hrp0095p1-78 | Fat, Metabolism and Obesity | ESPE2022

Obstructive sleep apnea (OSA) is associated with the impairment of beta-cell response to glucose in children and adolescents with obesity

Rosaria Umano Giuseppina , Galderisi Alfonso , Aiello Francesca , Martino Mariangela , Di Sessa Anna , Marzuillo Pierluigi , Miraglia del Giudice Emanuele

Purpose: The main purpose of the study is to assess the association between obstructive sleep apnea (OSA) and insulin secretion in children with obesity.Objectives: To achieve our aim we have assessed OSA and measured insulin secretion by the using the oral minimal model (OMM) in a cohort of 77 obese children and adolescents.Methods: We retrospectively enrolled children and adolesc...

hrp0095p1-139 | Multisystem Endocrine Disorders | ESPE2022

“Cushing’s syndrome in a girl with Carney Complex: a case report”

Rivetti Giulio , Caterina Luongo , Aiello Francesca , Miraglia Del Giudice Emanuele , Marzuillo Pierluigi , Di Iorio Giovanni , Pellino Valeria , Grandone Anna

Background: Carney complex (CNC) is a rare autosomal dominant multiple endocrine neoplasia and lentiginosis syndrome, characterized by abnormal cutaneous and mucosal pigmentation, myxomas of the heart, skin, breast and other non-endocrine tumors. CNC is principally caused by loss-of-function mutations of PRKAR1A gene located at 17q22-24 coding for the regulatory subunit type I alpha of protein kinase A (PKA) gene. Cushing’s syndrome is a rare disorder in...