hrp0084p2-442 | Gonads | ESPE2015

Differential Regulation of Serum Sex Hormone Binding Globuling in Polycystic Ovarian Syndrome Girls in Relation to Weight

Murillo-Valles Marta , Carbonell-Prat Marina , Granada Maria Luisa , Salinas Isabel , Martinez-Barahona Maria , Bel-Comos Joan

Introduction: It is thought that sex hormone binding protein (SHBG) is involved in glucose homeostasis in addition to regulate the levels of sex hormones. Clinical studies associate reduced SHBG concentrations with insulin resistance (IR).Objective: To evaluate the relationship of SHBG with IR and hyperandrogenism markers in a group of adolescents affected with polycystic ovarian syndrome (PCOS), and how weight could affect these markers.<p class="ab...

hrp0084p3-685 | Bone | ESPE2015

Nutritional Rickets in a Bottle-Fed 2 Months Old Baby

Solis Maria Magdalena Hawkins , de Alvare Ana Dolores Alcalde , Yebra Yebra Julia , Pose Araceli Garcia , Martinez Ana Sancho

Background: Nutritional rickets (NR) is the most common growing bone disease, and vitamin D deficiency (VDD) may predispose to other diseases (diabetes mellitus, cancer, and multiple sclerosis). Maternal VDD and exclusive breastfeeding without supplementation are the most frecuent causes of NR in the neonate. VDD is still a problem in Europe. There are few reports of maternal hypovitaminosis D and rickets in bottle-fed infants during early infancy. We report a case of Nutritio...

hrp0094p2-188 | Fat, metabolism and obesity | ESPE2021

Development of a predictive normogram to assess the risk of liver steatosis in childhood obesity

Martos-Moreno Gabriel A. , Maria Andres-Esteban Eva , Martinez-Villanueva Julian , Sirvent Sara , Hawkins Federico G. , Argente Jesus ,

Background: Liver steatosis (LS) results from ectopic fat deposition and can be present in obesity even at early ages. Similar to insulin resistance, the onset of LS does not seem to depend exclusively upon the severity of obesity and shows a large interindividual variability.Objective: Our objective was to develop a predictive normogram for LS in children and adolescents with obesity ba...

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...

hrp0095p1-371 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Exome sequencing reveals a high proportion of causal and candidate gene variants in a large early-onset Primary Ovarian Insufficiency cohort

M McGlacken-Byrne Sinead , P Suntharalingham Jenifer , Ishida Miho , Buonocore Federica , Del Valle Ignacio , Cameron-Pimblett Antoinette , Genomics UCL , T Dattani Mehul , S Conway Gerard , C Achermann John

Background: The presentation of early-onset Primary Ovarian Insufficiency (EO-POI), most often with primary amenorrhea, is at one end of a spectrum spanning 40 years. The aetiology of POI is frequently unclear but next generation sequencing of varied age groups has identified several associated genetic variants. Whether girls with EO-POI are more likely to have a genetic aetiology than those with later presentations remains unknown.<stro...

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...

hrp0089p3-p204 | GH &amp; IGFs P3 | ESPE2018

Children Born Small for Gestational Age Treated with Growth Hormone: Evolutionary Aspects

Vazquez Veronica Maria Padin , Costa David Albino Gomez , Garcia Aida Del Campo , Cordo Lourdes Rey , Martin Jose Luis Chamorro , Lorenzo Jose Ramon Fernandez

Introduction: Short stature is defined as stature less than −2 standars deviations (SD) for a person’s age and sex of the reference population. Short for gestational age children (SGA) represent 20% of all children with short stature. 10% of these can not catch-up and remains their height below −2 SD. Growth hormone (GH) treatment is a recognized therapy for SGA children authorized in Europe at 4 years old. There are studies that support that younger children ...

hrp0086p2-p681 | Growth P2 | ESPE2016

Evaluation of GH Deficient Pre Pubertal Children Treated with Omnitrope® Using the AuxoLog Computer Program

del Campo Maria Ruiz , Gonzalez Jose Revorio , Lechuga Alfonso , Gila Ana Lucia Gomez , Cancio Monica Fernandez , Carrascosa Antonio , Garcia Margarida Palla

Background: AuxoLog is a validated computer program that evaluates auxologic parameters comparing them with the Spanish growth charts. It also allocates subjects to the corresponding pubertal development group.Objective: To assess the evolution of auxological parameters in GH deficient (GHD) pre pubertal children treated with Omnitrope for a minimum of 2 years prior to puberty.Method: This study is non-interventional, retrospective...

hrp0086p2-p705 | Endocrinology and Multisystemic Diseases P2 | ESPE2016

Endocrinological Disorders in Children with Neurofibromatosis Type 1 and Optic Pathway Gliomas

Nacca Raffaella , Scillipoti Martina , Grandone Anna , Santoro Claudia , Cinalli Giuseppe , Cirillo Mario , Cioffi Daniela , Luongo Caterina , Del Giudice Emanuele Miraglia , Perrotta Silverio , Perrone Laura

Background: Children with neurofibromatosis type 1 (NF1) have an increased risk of developing optic pathway gliomas (OPGs) during childhood. Although these tumors usually have a benign course, some cases result in significant clinical symptoms, including endocrinological disorders.Objective and hypotheses: The aim of this study is to evaluate the endocrinological complications of OPGs involving the chiasm in children with NF1.Metho...