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...

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...

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...

hrp0086p2-p977 | Thyroid P2 | ESPE2016

Very Early Onset of Autoimmune Thyroiditis in a Toddler with Multi-organ Involvement

Marzuillo Pierluigi , Grandone Anna , Di Sessa Anna , Sanso Claudia , De Nitto Elena , Ruggiero Laura , Capristo Carlo , del Giudice Emanuele Miraglia , Perrone Laura

Background: In infants under 3 years of age acquired primary hypothyroidism caused by autoimmune thyroiditis is very rare. Hypothyroidism can manifest with different signs and symptoms and has a wide range of presentations from subclinical hypothyroidism to overt form.Objective and hypotheses: We describe a child with an unusual hypothyroidism presentation characterized by multi-organ involvement and related to acquired autoimmune thyroiditis during a ve...

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...

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...

hrp0089p2-p045 | Bone, Growth Plate &amp; Mineral Metabolism P2 | ESPE2018

An Unusual Case of Hypophosphatemia in a Child Affected by Di George Syndrome

Kalapurackal Mila Ann , Barzaghi Federica , Pitea Marco , Cassano Gilda , Weber Giovanna

A female child born from non consanguineous parents of Pakistani origin presented with congenital heart anomaly at prenatal ultrasound and confirmed at birth, with type B aortic arch interruption, right-sided aortic arch, wide ventricular and atrium septum defects, which required repeated surgical corrections during the first 9 months of life. The ultrasound also reported absence of the thymus. Suspecting Di Deorge Syndrome, a fluorescent in situ hybridization (FISH) ...

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...

hrp0086p1-p614 | Growth P1 | ESPE2016

Serum α-Klotho Levels are not Informative for the Evaluation of GH Secretion in Short Children

Elsedfy Heba , Meazza Cristina , Radetti Giorgio , Khalaf Randa I. , Pagani Sara , Sessa Nicodemo , Albertini Riccardo , De Stefano Anna Maria , Navarra Antonella , Lupi Fiorenzo , El Kholy Mohamed , Bozzola Mauro

Background: α-klotho is a transmembrane protein which can be cleaved and act as a circulating hormone. Since low α-klotho levels were found in organic GH deficiency (GHD) and high levels in acromegaly, an interaction between α-klotho, GH and linear growth has been suggested.Objective and hypotheses: We investigated the role of α-klotho protein as a reliable marker of GH secretion in short children and the factors influencing its secre...