hrp0092p2-8 | Adrenals and HPA Axis | ESPE2019

Novel TBX19 Mutation as Cause of Hypoglicemia in Two Siblings

Castagna Andrea , Bottero Arianna , Ruggiero Jessica , Viola Anna , Perrotti Chiara , Oprandi Daniela , Rossi Stefano , Badolato Raffaele , Cutrì Maria Rosa , Mingotti Chiara , Grazzani Livia , Buzi Fabio , Pilotta Alba

We describe a female neonate born from consanguineous parents who presented at birth with respiratory distress and severe hypoglycemia. At six months of age, the child was admitted to the Intensive care Unit because of two critical episodes characterized by fever and loss of consciousness. Child condition were critical and suggestive of sepsis, but blood tests showed severe hypoglycemia (19 mg/dl), hyponatremia (Na 132 mmol/l), compensated metabolic acidosis and increased infl...

hrp0092p2-150 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

Relations of O2 Supplementation to Blood Serum Insulin-like Growth Factor-II / Insulin-like Growth Factor-binding Protein-3 Ratios in the Not-life-threatened Human Newborn; Role of Oral-enteral Caloric Intake Beyond Axillary Temperature

Terzi Cesare , Virdis Raffaele , Magnani Cristiana , Tridenti Gabriele , Cerioli Andrea , Riani Marco , Chesi Elena , Bernasconi Sergio , De Angelis Gian Luigi , Blum Werner F. , Banchini Giacomo

Introduction: Oral/enteral caloric intake (KOE) insufficiency may accompany human newborn (NWB) respiratory derangements. We detected axillary temperature(TEMP) relations to NWB blood serum Insulin-like Growth Factor-II(IG2)-blood serum Insulin-like Growth Factor-Binding Protein-3(IB3) ratios(IG2/IB3R). Here we evaluate the TEMP-independent relevance of birth gestational age(GA) and KOE to relationships of O2 supplementation in respiratory gases(O2S) with IG2/...

hrp0092p3-133 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

Relations of O2 Supplementation to Blood Serum Insulin-Like Growth Factor-I in the Not-Life-Threatened Human Newborn; Role of Oral-Enteral Caloric Intake Beyond Axillary Temperature

Terzi Cesare , Blum Werner F , Magnani Cristiana , Tridenti Gabriele , Cerioli Andrea , Riani Marco , Garavelli Lidia , Bernasconi Sergio , De Angelis Gian Luigi , Virdis Raffaele , Banchini Giacomo

Introduction: Human newborn(NWB) respiratory derangements may be concomitant to oral/enteral caloric intake (KOE) insufficiency. We evidenced a possible involvement of axillary temperature(TEMP) in relationships between preterm birth (PTB) and blood serum Insulin-like Growth Factor-I(IG1) in NWBs. Here we evaluate the TEMP-independent role of birth gestational age(GA) and KOE in relations of O2 supplementation in respiratory gases(O2S) to IG1 in the not-life-t...

hrp0089rfc10.4 | Late Breaking | ESPE2018

Comparative Analysis between Immunoassay and Tandem Mass Spectrometry for Androgens before and after Human Recombinant Gonadotrophin in Children with Genital Ambiguity and 46,XY Karyotype

Oliveira Leticia , Guerra-Junior Gil , Longui Carlos , Guaragna-Filho Guilherme , Costa Jose Luiz , Lanaro Rafael , Silva David , Mello Maricilda , Maciel-Guerra Andrea , Morcillo Andre

Liquid chromatography associated with tandem mass spectrometry (LC-MS/MS) is currently considered the gold standard for steroid measurement. The aim of this study was to compare traditional immunoassay and LC-MS/MS methods for androgens measurement before and after human recombinant chorionic gonadotrophin (hrCG) stimulation in children with diagnosis of disorder of sex development (DSD) with 46,XY karyotype and past of normal testosterone secretion. We evaluated 19 patients, ...

hrp0089p1-p122 | Fat, Metabolism and Obesity P1 | ESPE2018

Determinants of Attrition from a Healthy Lifestyle Intervention: Experience from the CIRCUIT Program

Daniels Prince Kevin , Ybarra Marina , Van Hulst Andrea , Barnett Tracie A , Mathieu Marie-Eve , Drouin Olivier , Kakinami Lisa , Bigras Jean-Luc , Henderson Melanie

Introduction: Pediatric obesity is a global public health problem that is associated with severe cardiometabolic consequences. Weight management interventions focusing on lifestyles have shown some promising results, but attrition rates are often high and reasons for dropout are poorly understood.Objectives: We aimed toestimate the prevalence, and identify the determinants of attrition among pediatric participants in the first year of a 2-year lifestyle ...

hrp0089p3-p176 | Fetal, Neonatal Endocrinology and Metabolism P3 | ESPE2018

Axillary Temperature Relation to Blood Serum Insulin-like Growth Factor-I in the Not-life-Threatened Newborn: Relevance of Preterm Birth

Terzi Cesare , Blum Werner F. , Magnani Cristiana , Tridenti Gabriele , Cerioli Andrea , Riani Marco , Garavelli Lidia , Bernasconi Sergio , Angelis Gian Luigi De , Virdis Raffaele , Banchini Giacomo

Introduction: Preterm delivery may comport blood serum Insulin-like Growth Factor-I (IG1) decrements and lower body temperature during the first days of postnatal life of the human newborn (NWB). We evaluated the role of preterm delivery in associations between axillary temperature (TEMP) and IG1 in NWBs without life-threatening disease.Methods: NWBs with any among total parenteral nutrition, blood transfusion, therapeutic hypothermia, life-threatening d...

hrp0089p3-p177 | Fetal, Neonatal Endocrinology and Metabolism P3 | ESPE2018

Birth Estimated Brain Weight Relation to Ratios between Insulin-like Growth Factor-II and Insulin-like Growth Factor Binding Protein-3 in the Not-life-threatened Newborn: Relevance

Terzi Cesare , Virdis Raffaele , Magnani Cristiana , Tridenti Gabriele , Cerioli Andrea , Riani Marco , Chesi Elena , Bernasconi Sergio , Angelis Gian Luigi De , Blum Werner F. , Banchini Giacomo

Introduction: Body temperature determinants include head-brain thermal homeostatic mechanisms and, in the human newborn (NWB), birth gestational age (GA). Estimated birth brain weight (BRW) ratio to birth body weight (BW)(BBR) resulted associated with GA and blood serum Insulin-like Growth Factor (IGF)-II(IG2) ratio to blood serum IGF Binding Protein-3 (IB3)(IG2 through chronologically-corresponding IB3, IG2/IB3R) in our previous NWB observations. Here we evaluate BRW, BW, BBR...

hrp0086fc4.4 | Pathophysiology of Obesity | ESPE2016

The Role of Apoptotic Marker Apo-1/Fas in the Metabolism and Endothelial Function of Healthy Children

Maganna Maria , Katsa Maria Efthymia , Ioannidis Anastasios , Zyga Sofia , Tsironi Maria , Sachlas Athanasios , Routsi Kleopatra , Dolianiti Loukia , Rojas Gil Andrea Paola

Background: Apoptosis is a programmed sequence of events towards cell death. Blood vessels employ apoptosis for remodeling during development and to maintain homeostasis during adulthood. The atherosclerotic process begins in early childhood and is correlated with obesity and metabolic disorders.Objective and hypotheses: To investigate the correlation of apoptotic marker Apo-1/Fas with children’s biochemical and anthropometric characteristics.<p...

hrp0086p1-p355 | Gonads &amp; DSD P1 | ESPE2016

Mutations at the SF-1 Ligand-Binding Domain Can Lead to Different Effects on DNA Binding: Report of Two Novel Mutations

Fabbri Helena Campos , Werner Ralf , Guerra-Junior Gil , Maciel-Guerra Andrea Trevas , Andrade Juliana Gabriel Ribeiro de , Hiort Olaf , Mello Maricilda Palandi de

Background: Steroidogenic factor-1 (SF-1), denominated as nuclear receptor subfamily five group A member 1 (NR5A1), is an orphan receptor that regulates several steps of adrenal and gonadal development. Mutations in its gene are responsible for different phenotypes of disorders of sex development (DSD).Objective and hypotheses: To study the functional impact of two novel NR5A1 mutations, the p.C247* and p.K396Rfs*34, both identified within the l...

hrp0086p1-p361 | Gonads &amp; DSD P1 | ESPE2016

Partial and Mixed Gonadal Dysgenesis Cannot be Distinguished by Histological Picture: Clinical Evaluation, Histological Differences and Long-Term Follow up of 61 Brazilian Patients

de Andrade Juliana Gabriel Ribeiro , Fabbri Helena Campos , dos Santos Ana Paula , de Faria Antonia Paula Marques , Mello Maricilda Palandi , Guerra-Junior Gil , Maciel-Guerra Andrea Trevas

Background: Differential diagnosis between XY partial (PGD) and mixed gonadal dysgenesis (MGD) was initially established by histological evaluation; however, when there is a 45,X lineage there are differences not only in clinical aspects but also in prognosis.Objective and hypotheses: The aim of this work was to analyze clinical picture of patients with genital ambiguity due to testicular dysgenesis, with and without a 45,X lineage, and compare these con...