hrp0092p1-303 | Adrenals and HPA Axis (2) | ESPE2019

Hypothalamo-Pituitary-Adrenal (HPA) Axis in Infants Exposed to Corticosteroids During Fetal Life

Auriche Morgane , Houang Muriel , Giabicani Eloise , Mitanchez Delphine , Netchine Irène

Background: Prednisolone, prednisone, and hydrocortisone, are used during pregnancy, in women with thrombocytopenia, auto immune or inflammatory diseases. The current belief speculates on the absence of adverse effects on the hypothalamo-pituitary-adrenal (HPA) axis of the fetus, thanks to placental 11BHSD2 inactivation.Objective and Hypotheses: We analyzed the results of ATCH tests routinely performed in neonates expose...

hrp0092fc12.1 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Increasing Knowledge in IGF1R Defects: Lessons from 20 New Patients

Giabicani Eloïse , Willems Marjorie , Steunou Virginie , Chantot-Bastaraud Sandra , Rossignol Sylvie , Le Bouc Yves , Netchine Irène , Brioude Frédéric

Background: IGF1R is a keystone of foetal growth regulation by mediating the effects of both IGF-I and IGF-II. Recently the first clinical cohort of patients carrying an IGF1R defect has been reported from which a clinical score was established for diagnosis. Since no external validation of this score is available we assessed it in a large cohort of patients with identified IGF1R defects. Furthermore we aim at setting-up a functional test to ...

hrp0092rfc8.2 | Pituitary, Neuroendocrinology and Puberty Session 1 | ESPE2019

Investigation of Imprinting Alterations in MKRN3 and DLK1 in a Cohort of Girls with Central Precocious Puberty Through Specific DNA Methylation Analysis

Canton Ana , Steunou Virginie , Brito Vinicius , Laure Sobrier Marie , Montenegro Luciana , Bessa Danielle , Mendonca Berenice B , Netchine Irène , Latronico Ana Claudia

Background: Loss of imprinting has been implicated in the pathogenesis of several human diseases. Monogenic causes of central precocious puberty (CPP) were identified in families with loss-of-function mutations in two paternally expressed imprinted genes: Makorin zinc finger 3 (MKRN3) and Delta-like 1 homolog (DLK1). The role of imprinting defects in CPP has not been described so far.Objective: To inves...

hrp0092lb-11 | Late Breaking Posters | ESPE2019

Height in Inborn Errors of Metabolism Requiring Hypoprotidic Diet: A Longitudinal Follow Up Study About 213 Patients

Busiah kanetee , Roda Célina , Brassier Anaïs , Pontoizeau Clément , Ottolenghi Chris , Piketty Marie , Crosnier Anne-Sophie , Perin Laurence , Le Bouc Yves , Netchine Irène , De Lonlay Pascale

Background: Protein intake is crucial for growth. Many inherited metabolic diseases (IMD) require a strict controlled protein diet.Aim: to evaluate growth, pubertal status and body composition in IMD requiring a strict controlled protein diet.Patients & Méthods: Longitudinal follow up cohort study. We recorded data before 4years (early childhood, n=189); betwe...

hrp0092p1-80 | GH and IGFs | ESPE2019

Clinical Characteristics, Puberty Pattern and Adult or Near-adult-height Data in a Group of Patients with Growth Failure due to Severe Primary IGF-1 Deficiency (GROWPATI Study)

Stoupa Athanasia , Lorraud Christine , Flechtner Isabelle , Viaud Magali , Pinto Graziella , Samara-Boustani Dinane , Thalassinos Caroline , Brioude Frédéric , Netchine Irène , Amselem Serge , Legendre Marie , Polak Michel

Background: Severe primary insulin-growth factor-1 (IGF-1) deficiency (SPIGF1D) is a rare cause of growth retardation. Diagnostic criteria include age- and sex-dependent low basal IGF-1 levels (<2.5th percentile), height ≤ -3SDS, absence of growth hormone deficiency and of any secondary causes of growth failure.Objectives: Description of pubertal onset and growth spurt, data on adult or near-adult-he...

hrp0092rfc3.1 | Multi-system Endocrine Disorders | ESPE2019

European Registries For Rare Endocrine Conditions (EuRRECa): Results From The Pilot Phase Of The Platform For e-Reporting Of Rare Endocrine Conditions (e-REC)

Ali Salma , Bryce Jillian , Muir Tom , Okure Akanimo , Cools Martine , Danne Thomas , Dattani Mehul , Dekkers Olaf , Hiort Olaf , Linglart Agnès , Netchine Irène , Nordenström Anna , Patócs Attila , Pereira Alberto , Persani Luca , Reisch Nicole , Smyth Arlene , Šumnik Zdeněk , Taruscio Domenica , Visser W. Edward , Ahmed S.Faisal

Background: EuRRECa (European Registries for Rare Endocrine Conditions) is a new project incorporating the development of a core endocrine registry and the development of an e-reporting programme for rare endocrine conditions (e-REC) that are covered within Endo-ERN (https://eurreca.net/e-rec/).Methods: 24 Endo-ERN centres within 12 countries participated in a pilot phase of e-REC...

hrp0084p3-852 | Fat | ESPE2015

Comparison of the Insulin Resistance Index HOMA-IR between Obese and Normal Children

Rocheleau Ghislain , Dewitte Aude , Bonnefond Amelie , Weill Jacques

Background: Adult obese subjects are susceptible to an excess of cardiovascular events due to insulin resistance through the metabolic syndrome or hyperinsulinism itself. These deleterious factors go on and amplify from childhood into adulthood. To the best of our knowledge no comparison of insulin resistance indices has been performed between obese and normal children.Objectives: The main objective of this study is to compare the insulin sensitivity ind...

hrp0089p1-p180 | Growth &amp; Syndromes P1 | ESPE2018

Silver Russell and Beckwith-Wiedemann Syndromes: Mosaic Distribution of Epigenetic Anomalies

Pham Aurelie , Giabicani Eloise , Steunou Virginie , Netchine Irene , Brioude Frederic

Background: Genomic imprinting is an epigenetic mechanism referring to the monoallelic silencing of genes according to their parental origin. Human chromosome 11p15.5 encompasses two imprinted domains (ICR1 and ICR2) playing an important role in controlling fetal and postnatal growth. Genetic (uniparental disomy or gain/loss of function mutations) or epigenetic alterations at the 11p15.5 imprinted region (loss or gain of DNA methylation) are associated with two clinical disord...

hrp0086fc6.4 | Syndromes: Mechanisms and Management | ESPE2016

Chromosome 14 Imprinted Region DLK1/GTL2 Disruption: An Alternative Molecular Etiology for Silver-Russell Syndrome

Geoffron Sophie , Habib Walid Abi , Canton Ana , Brioude Frederic , Netchine Irene

Background: Silver-Russell syndrome (SRS) is a clinically and genetically heterogeneous disorder, which remains a clinical diagnosis. The Netchine-Harbison clinical scoring system (NH-CSS), recently adopted by the first international consensus on SRS, defines SRS with at least 4 of the 6 following criteria: born SGA, postnatal growth retardation, relative macrocephaly at birth, prominent forehead, body asymmetry and early feeding difficulties. It is related to 11p15 ICR1 loss ...

hrp0094p2-206 | Fat, metabolism and obesity | ESPE2021

HOMA-IR in obese children with BMI ≥2.5SDS, but not <2.5SDS, differ significantly from normal weight children

Leka-Emiri Sofia , Dikou Maria , Evangelopoulou Catherine , Kafetzi Maria , Petrou Vasilios , Vlachopapadopoulou Elpis , Michalacos Stefanos ,

Objective: Compare HOMA-IR between obese and normal weight children.Methods: 292 children (156 females), BMI (≥0SD), Tanner stage 1/>2: 163/129, divided in four groups (Group 1: 0SD<BMI<2SD, Group 2: 2SD≤BMI<2.25SD, Group 3: 2.25SD≤BMI<2.5SD, Group 4: BMI≥2.5SD) were analyzed retrospectively from the medical records. Age, sex, fasting blood glucose and insulin as well as the ho...