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...

hrp0082fc6.6 | Gonads & DSD | ESPE2014

Effects of Exposure to the Endocrine disruptor di(n-butyl) Phthalate on Testicular Dysgenesis Fetal Germ Cell Development in the Rat and in Human Fetal Testis

Mitchell Rod , van den Driesche Sander , Hrabalkova Lenka , Anderson Richard , McKinnell Chris , MacPherson Sheila , Calarrao Ana , Sharpe Richard

Background: Phthalate exposure results in endocrine disruption by inhibiting steroidogenesis, inducing focal dysgenesis and disrupting germ cell development in the rat fetal testis. Whilst phthalate exposure does not reduce testosterone production by the human fetal testis, its effects on germ cells and induction of dysgenetic areas in the developing human testis are less well described.Objective and Hypotheses: To determine the effects of phthalate expo...

hrp0095p2-128 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2022

Placental Weight and their relation to Infant Birth weight and Gender, Gestational Age, and Maternal Age: (A Population-Based Retrospective Data Analysis (n = 80722)

Alyafei Fawzia , Mai Al-qubasi , Soliman Ashraf , Ali Hamdy , Olukade Tawa , Alturk Mohamed , Alaaraj Nada , Hamed Noor , Ahmed Shayma

Introduction: Many potential factors can affect or be influenced by placental size. These include gestational age, maternal age, race, socioeconomic status, and gender of the baby.Aim: We investigated the possible association/s between placental weight on the one hand and birth weight, gestational age, maternal age, and gender of the baby in a large cohort of newborns (n = 80722)Me...

hrp0097p1-508 | Growth and Syndromes | ESPE2023

Placental measurements in relation to gestational age (GA) and fetal growth Characteristics (SGA, AGA and LGA) in a large Cohort in Qatar(n= 80722).

Alyafei Fawzia , Soliman Ashraf , Olukade Tawa , Alqubaisi Mai , Alaaraj Nada , Ali Hamdy

Background: Epidemiological studies have shown associations between placental weight (PW) and perinatal and postnatal linear growth and weight gain.Objectives: To report trimmed placental weight (PWT) and evaluate their association with birth weight (BWT), and gestational age (GA) in a large cohort of mother/ baby pairs in Qatar. (n= 80722).Methods: Retrospective data anal...

hrp0094p2-378 | Pituitary, neuroendocrinology and puberty | ESPE2021

The effect of 3 years of Gonadotropin-Suppressive Therapy in Girls with Early Puberty: Height Z Score in Relation to Mid-Parental height Z score.

Alaaraj Nada , Soliman Ashraf , Hamed Noor , Ahmed Shayma , Alyafei Fawzia ,

Introduction: Early and fast puberty (EFP) in girls, defined as pubertal onset at age 8-9 yr., with an accelerated course, may cause compromised final adult height (FAHt). Treatment with a gonadotropin-suppressive agent is still controversial because the improvement in FAHt is equivocal and there may be a risk of overweight.Aim of the study: We analyzed the data of 24 girls with EFP treated with GnRH analog (GnRH) since Tanner stage 2-3,...

hrp0086p1-p128 | Bone & Mineral Metabolism P1 | ESPE2016

Childhood Cancer Survivors (CCS) are at High Risk of Reduced Bone Mass During the Second Decade of Life

Di Iorgi Natascia , Morsellino Vera , Gallizia Annalisa , Pistorio Angela , Cerone Federica , Tallone Ramona , Haupt Riccardo , Maghnie Mohamad

Background: Childhood cancer survivors (CCS) are at risk for low bone mineral density (BMD).Objective: Aim of our study was to evaluate the prevalence of low BMD and it’s determinants in a single-center cohort of CCS.Method: One-hundred-eighty-five CCS (103M, 84F) diagnosed with liquid-LT-(n=48), solid-ST-(n=88) and brain tumor-BT-(n=51) at the age of 5.3±3.2 years underwent height, BMI (SDS), T...

hrp0095lb3 | Late Breaking | ESPE2022

High Glycated Hemoglobin instead of High Body Mass Index Might Increase the Urine N-acetyl-β-D-glucosaminidase Concentration in Children and Adolescents with Diabetes Mellitus

Jin Park Su , Bae Ahn Moon , Suh Jin-Soon , Soon Cho Kyoung , Ho Jung Min , Suh Byung-Kyu

Children with diabetes, and particularly those with obesity, have poor glycemic control. They are thus at higher risk of early microvascular complications. Renal tubulointerstitial markers are integral to evaluating diabetic nephropathy. Various biomarkers have been proposed, but their role in the obese pediatric population is uncertain. We investigated renal injury markers in children with diabetes, according to obesity, and determined their role as early predictors of diabet...

hrp0092p2-223 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Long Term Effects of GnRH Agonist Therapy on BMI in Girls with Idiopathic Central Precocious Puberty

Vuralli Dogus , Ozon Z. Alev , Gonc E. Nazli , Alikasifoglu Ayfer , Kandemir Nurgun

Background: Studies investigating effects of GnRHa therapy on body weight (BW) and BMI in subjects with CPP are generally including short term effects.Aim: To investigate changes in BMI at the beginning, during and two years after completion of GnRHa therapy to determine influential factors in girls with idiopathic CPP.Methods: Data of 138 girls who completed GnRHa therapy for iCPP...

hrp0097lb19 | Late Breaking | ESPE2023

Identification of a novel homozygous mutation in LEPR gene associated with severe early-onset pediatric obesity in two sisters from Central Brazil

Machado Pinto Renata , P Pinto Irene , G Rodovalho Ricardo , de O Silva Lorena , VC Fukushima Lorraine , S Moreira Vanessa , S B de Souza Cristiane

Introduction: Early-onset severe obesity (before five years of age) without intellectual deficit, dysmorphisms, or malformations raises the hypothesis of monogenic obesity. The leptin receptor (Lepr) pathway is essential for food intake regulation, energy expenditure, and body weight. Mutations in leptin and the Lepr have been shown to cause early-onset severe obesity in mice and humans.Objective: To report the clinical ...

hrp0082p3-d1-955 | Sex Development | ESPE2014

Severe Undervirilisation in a 46,XY Case due to a Novel Mutation in HSD17B3 Gene

Alikasifoglu Ayfer , Vuralli Dogus , Hiort Olaf , Gonc E Nazli , Ozon Z Alev , Kandemir Nurgun

Background: 17-β-hydroxysteroid dehydrogenase 3 (17-β-HSD3) deficiency is a rare disorder of sex development due to impaired conversion of androstenedione to testosterone. Children with 46,XY karyotype often have female appearing external or ambiguous genitalia at birth. At the time of puberty, virilisation can occur. Therefore 46,XY patients with HSD17B3 gene defects should be raised as male.Objective and hypotheses: When a child with 46,XY ka...