hrp0089fc12.2 | Diabetes and Insulin 2 | ESPE2018

Apoptosis and Oxidative Stress Markers During the Oral Glucose Tolerance Test (OGTT)

Gil Andrea Paola Rojas , Katsa Maria Efthymia , Tzortzis Nomikos , Ioannidis Anastasios , Kostopoulou Eirini , Spiliotis Bessie E

Background: In adults, insulin resistance is associated with vascular damage and progressive loss of the endothelial protective functions. Additionally, it further complicates the micro- and macro- vascular environment through increasing oxidative stress and inflammation.Aim: The purpose of this study was to evaluate how apoptosis and antioxidant markers are correlated with biochemical markers in children, during the glucose tolerance te...

hrp0089p3-p028 | Adrenals and HPA Axis P3 | ESPE2018

Discrete Virilization in Girls with the Classic Form of Congenital Adrenal Hyperplasia: the Importance of a Detailed Genital Examination at Birth

Santos Silva Chagas Leticia , Guerra-Junior Gil , Palandi De-Melo Maricilda , Helena Valente Lemos-Marini Sofia

Introduction: Differentiation of the external genitalia depends on serum androgen concentrations in the foetal life. The classic form of Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency (21OHD) is the most frequent cause of female genital ambiguity. It is an autosomal recessive disorder due to CYP21A2 mutations that are classified in groups based on their in vitro residual enzymatic activity. The phenotype usually is predicted by the less severe mutatio...

hrp0089p3-p407 | Diabetes & Insulin P3 | ESPE2018

Degludec Versus Glargine in Pediatric and Adolescent Patients with Type 1 Diabetes

Gil-Poch Estela , Javier Arroyo-Diez Francisco , Beato-Vibora Pilar I

Introduction: To optimal glycemic control without hypoglycemia must be the aim of insulin treatment for all patients with type 1 diabetes (T1DM). Despite the advantages of the basal-bolus insulin regimens with MDI, hypoglycemia presents a major barrier in achieving desirable blood glucose levels. Degludec is a new basal insulin analog with longer half-life and lower variability.Objetive: To investigate the differences between long-acting insulins glargin...

hrp0089p2-p310 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

Can Basal Levels of Luteinizing Hormone (LH) Replace the GnRH Test in the Diagnosis of Precocious Puberty in Girls?

Llano Juan , Morales William , Pineda Catherine , Ortiz Teresa , Gil Nayibe , Laverde Gladys , Castro Sonia , Llano Mauricio

Aim: To determine the sensitivity, specificity of basal LH measurement compared to the GnRH test in patients with Central precocious puberty (CPP) and determine the cut off point for basal LH to diagnose CPP.Methods: 680 female patients were referred for presumptive diagnosis of central precocious puberty in the city of Bogota. All patients went through a GnRH test, using a Roche immunoassay for Luteinizing hormone (LH) and follicle stimulating hormone (...

hrp0089p3-p325 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

A Paternally Inherited NR5A1 Mutation in a Case of 46,XY Partial Gonadal Dysgenesis

Maciel-Guerra Andrea , Fabbri-Scallet Helena , Guerra-Junior Gil , Mello Maricilda De

Steroidogenic factor-1 (SF1), encoded by plays a central role in sex development, steroidogenesis, and reproduction in both males and females. NR5A1 mutations have been described in a diverse spectrum of disorders of sex development (DSD). We report on a case of XY Partial Gonadal Dysgenesis with paternal inheritance of a NR5A1 variant. A 17-year-old girl was referred to us due to primary amenorrhea and absence of secondary female sex characteristics. She was...

hrp0086p1-p468 | Fat Metabolism and Obesity P1 | ESPE2016

Association of Fasting Triglycerides to High-Density Lipoprotein Ratio with Risk for Metabolic Disorders in Children

Efthymia Katsa Maria , Ioannidis Anastasios , Zyga Sofia , Sachlas Athanasios , Tsironi Maria , Paola Rojas Gil Andrea

Background: Atherosclerosis begins in childhood and progresses silently. Triglycerides/HDL ratio(TG/HDL) is a risk factor for cardiovascular diseases.Objective and hypotheses: To investigate TG/HDL as possible predictive factor for metabolic disorders in children.Method: Descriptive correlation, with 110 children (6–12 years old) in Sparta, Greece. Anthropometric and biochemical analyzes were performed.R...

hrp0082p1-d1-139 | Growth | ESPE2014

Functional Characterization of Three Novel Mutations in the IGF1R Gene

Juanes Matias , Guercio Gabriela , Marino Roxana , Berensztein Esperanza , Ciaccio Marta , Gil Silvia , Rivarola Marco A , Belgorosky Alicia

Background: IGF1R gene mutations have been associated with varying degrees of intrauterine and postnatal growth retardation, and microcephaly. We have previously reported three novel variants in the IGF1R gene: de novo p.Arg1256Ser, de novo p.Asn359Tyr and p.Tyr865Cys (ENDO 2013, OR20-2).Aim: To characterize the functional effects of the novel IGF1R gene allelic variants.Methods: In ...

hrp0082p3-d1-877 | Perinatal and Neonatal Endocrinology | ESPE2014

Congenital Hyperinsulinism: Clinical and Molecular Characteristics of Brazilian Patients

Liberatore Raphael , Martinelli Carlos , Guerra Gil , Manna Thais Della , Silva Ivani

Background: Congenital hyperinsulinism (CH) is the most common cause of persistent hypoglycemia in neonatal period. The inadequate secretion of insulin leads to high morbidity and mortality in those newborns. Despite the recent progress in the diagnosis and management of CH, until recently, the situation in Brazil has been that of early 1990’s. The epidemiology is unknown and state-of-the art management has not been available.Objective and hypothese...

hrp0084p2-402 | GH & IGF | ESPE2015

The Involvement of the Epidermal Growth Factor Receptor in the Successful GH Signalling and the Role of p21 in the Negative Regulation of the GH/GHR and EGF/EGFR Pathways, in GH Transduction Defect

Kostopoulou Eirini , Gil Andrea Paola Rojas , Karvela Alexia , Spiliotis Bessie Eugenia

Background: GH transduction defect (GHTD) is characterised by severe short stature and impaired STAT3 phosphorylation, which is overcome by simultaneous induction of GHTD fibroblasts with 200 ng/ml GH and short interference mRNA CIS (GH200/siRNA) or with 1 000 ng/ml GH (GH1000) and is clinically expressed with ‘catch-up’ growth after rhGH treatment.Objective and hypotheses: The involvement of epidermal growth factor receptor (EGFR) in the succe...

hrp0084p2-404 | GH & IGF | ESPE2015

The Role of β-TrCP, an E3 Ubiquitin Ligase, in the Signalling of the GH and Epidermal Growth Factor Pathways in Growth Hormone Transduction Defect

Kostopoulou Eirini , Gil Andrea Paola Rojas , Karvela Alexia , Spiliotis Bessie Eugenia

Background: epidermal growth factor (EGF) stimulates cell growth and differentiation through its receptor EGFR. Cross-talking between the GH and EGF signaling pathways is important for normal cellular development. GH transduction defect (GHTD), a clinical disorder characterized by impaired STAT3 phosphorylation due to excessive GHR degradation, is caused by over-expression of the E3 ubiquitin ligase, CIS.Induction of GHTD fibroblasts with 200 ng/ml hGH (GH200) and silencing mR...