hrp0089rfc10.3 | Late Breaking | ESPE2018

Developmental Regulation of Obestatin and Adropin in Prader-Willi Syndrome and Non-Syndromic Obesity: Associations with Weight, BMI-z, HOMA-IR, and Lipid Profile

Orsso Camila E , Butler Andrew A , Muehlbauer Michael J , Cui Huaxia N , Rubin Daniela A , Pakseresht Mohammadreza , Butler Merlin G , Prado Carla M , Freemark Michael , Haqq Andrea M

Background: The peptides obestatin and adropin are thought to regulate glucose and lipid metabolism, weight gain, and fluid intake in adults. The roles of obestatin and adropin in the regulation of weight and glucose and lipid metabolism in Prader-Willi syndrome (PWS) and non-syndromic pediatric obesity are poorly understood. This study compares the concentrations of obestatin and adropin in infants and children with PWS and age- and BMI-z matched controls, and explores the as...

hrp0086p2-p502 | Fat Metabolism and Obesity P2 | ESPE2016

Metabolic Syndrome in Prepubertal Obese Children: Inclusion of the Triglyceride/Hdl Ratio as an Alternative Diagnostic Criterion

Boquete Carla , Jesica Baran , Yuseff Fernanda Alvarez , Suarez Martha , Fideleff Gabriel , Azaretzky Miriam , Aranguren Marcela , Fusero Mariela , Ruibal Gabriela , Fideleff Hugo , Boquete Hugo

Background: Although a large number of publications show a high prevalence of Metabolic Syndrome (MS) during childhood, to date, there is no uniform definition for evaluating this condition in children and adolescents. In the pediatric population, there are difficulties for characterizing this condition and the various criteria used might lead to underdiagnosis. In recent years, the triglycerides/HDL (TG/HDL) ratio has been proposed as a new marker.Objec...

hrp0086p2-p513 | Fat Metabolism and Obesity P2 | ESPE2016

Low Birth Weight is not Associated with Increased Risk of Metabolic Syndrome in Obese Children and Adolescents

Inzaghi Elena , Fintini Danilo , Baldini Ferroli Barbara , Grossi Armando , Pedicelli Stefania , Bizzarri Carla , Fiori Rossana , Spadoni Gianluigi , Scire Giuseppe , Cappa Marco , Cianfarani Stefano

Background: Children born small for gestational age (SGA) are at risk for metabolic syndrome (MetS) as adults and show a higher prevalence of MetS components.Objective and hypotheses: To define the association between low birth weight and the presence of MetS in a cohort of obese Italian children and adolescents.Method: The presence of MetS was studied in a cohort of obese (BMI >90th centile) children and adolescents consisting...

hrp0082p3-d3-796 | Fat Metabolism & Obesity (2) | ESPE2014

Prevalence of Overweight and Obesity in Children and Adolescents at Public and Private Schools from Uberaba Brazil

Silva Adriana Paula , Feibelmann Taciana Carla Maia , Silva Daniela Cristina , Palhares Heloisa Marcelina Cunha , Scatena Lucia Marina , Borges Maria de Fatima

Background: In Brazil there is a nutritional transition between child malnutrition and increasing prevalence of obesity.Objective and hypotheses: The study aims to identify the prevalence of overweight and obesity in children aged 5–18 years in five private and 15 public schools from city of Uberaba Brazil.Method: Anthropometric data, inventorys physical activities and socioeconomic aspects were evaluated from 1125 individuals...

hrp0082p3-d1-925 | Puberty and Neuroendocrinology | ESPE2014

The Timing and Evolution of Puberty in a Sample of School-Aged Children in a Brazilian City

Feibelmann Taciana Carla Maia , da Silva Adriana Paula , Silva Daniela Cristina , de Resende Elisabete Aparecida Mantovani Rodrigues , Scatena Lucia Marina , de Fatima Borges Maria

Background: The beginning and evolution of physiological puberty may be occurring earlier, resulting in change in the age at which clinical investigation on precocious puberty must be conducted, as well as concerns regarding the possible deleterious effects of hormone exposure in a later stage of life.Objective and hypotheses: Assess age of beginning and evolution of puberty in boys and girls acknowledging the age of thelarche (T), menarche (M), period b...

hrp0089p1-p137 | Fetal, Neonatal Endocrinology and Metabolism P1 | ESPE2018

Neonatal Screening Tests in Premature Newborns in Southern Brasil

Furtado Ivy Hulbert Falcao , Kraemer Gabriela Carvalho , de Lima Marcella Rabassi , Domingos Mousseline Torquato , Pereira Rosana Marques , Cat Monica Nunes Lima , De Lacerda Luiz , da Silva Regina Paula Guimaraes Vieira Cavalcante , Sarquis Ana Lucia Figueiredo , Nesi-Franca Suzana

Neonatal screening tests are used for the screening of genetic, endocrine and metabolic diseases. Preterm newborns have a higher false-positive and false-negative results in neonatal screening. The objective of this study was to estimate the prevalence of false-positive and false-negative results in the neonatal screening tests for phenylketonuria, congenital hypothyroidism, biotinidase deficiency and congenital adrenal hyperplasia (CAH) in preterm newborns in Curitiba, to ana...

hrp0097p2-74 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2023

A recessive heterozygous mutation in ABCC8 gene as the cause of severe congenital hyperinsulinism: a case report

Scheidemantel Aline , de Carvalho Kraemer Gabriela , Nesi-França Suzana , Ângela Ramires De Carvalho Julienne , Marcolla Bordin Pazzini Luiza , Eduardo Cruvinel Pinto Luís , Junqueira Soares Gabriel , De Lacerda Luiz , Marques Pereira Rosana , Cardoso-Demartini Adriane

Case Report: A preterm boy was born at 35 weeks gestational age by cesarean section due to fetal macrossomia and polyhydramnios, weight 4980g (4.3 SDS, Intergrowth 21st), length 53cm (3.1 SDS), 1-min-Apgar 2. He needed resuscitation after birth, and his glycemia was 20 mg/dL. At the Neonatal Intensive Care Unit (NICU), he presented with severe hypoglycemia (10mg/dL) and required intravenous glucose infusion rate (GIR) 10mg/kg/min that increased progressively u...

hrp0092p2-279 | Thyroid | ESPE2019

Diagnosis of Central Congenital Hypothyroidism and Multiple Pituitary Deficiencies Through a Neonatal Screening Program

Grau Gema , Concepción Fernández María , Artola Elena , Sarasua Ainhoa , Lizarralde Eneritz , Pintos Carla , Vela Amaia , Rodríguez Amaia , Díez Ignacio , Rica Itxaso

The congenital central hypothyroidism (CCH) incidence is estimated at 1:18,000-30,000 neonates and most are included in multiple pituitary deficiencies (MPD). Clinical depend on the etiology, the deficit severity; other associated hormonal alterations and the age of diagnosis. Neonatal screening (NS) for congenital hypothyroidism that includes T4 facilitate its diagnosis.Objetives: •To evaluate the characteristics of patients with C...

hrp0084p2-523 | Puberty | ESPE2015

Copy Number Variants in Patients with Congenital Hypopituitarism Associated with Complex Phenotypes

Correa Fernanda A , Franca Marcela M , Canton Ana P M , Otto Aline P , Costalonga Everlayny F , Brito Vinicius N , Carvalho Luciani R , Costa Silvia , Arnhold Ivo J P , Jorge Alexander A L , Rosenberg Carla , Mendonca Berenice B

Background: The aetiology of congenital hypopituitarism (CH) is unknown in the majority of patients. In our cohort of 200 cases, it was possible to establish the genetic cause in only 13 patients (6.5%). Copy number variants (CNVs) have been implicated as the cause of genetic syndromes with previously unknown aetiology.Objective: To study the presence of CNVs and its relevance in patients with CH of unknown cause associated with complex phenotypes.<p...

hrp0084p3-717 | Diabetes | ESPE2015

Seip-Berardinelli Syndrome in a Patient Referred by Low Weight Gain

Kopacek Cristiane , Beltrao Luciana Amorim , Guimaraes Victoria Bernardes , Trombetta Julia Santana , Lliguin Karen Lizeth Puma , Rosa Rosana Cardoso Manique , de Mattos Vinicius Freitas , Graziadio Carla , Zen Paulo Ricardo Gazzola , Rosa Rafael Fabiano Machado

Background: Seip-Berardinelli syndrome is a rare form of congenital lipodystrophy.Objective and hypothesis: To report a patient later diagnosed with Seip-Berardinelli syndrome referred initially for evaluation due to low weight gain.Population and/or methods: We performed the report of the case along with a literature review.Results: The patient was referred due to low weight gain. She was the second daughter...