hrp0095p2-144 | GH and IGFs | ESPE2022

Growpati Study: Clinical and genetic characterization of a cohort of patients with short stature due to severe primary IGF1 deficiency

Stoupa Athanasia , Flechtner Isabelle , Viaud Magali , Pinto Graziella , Samara-Boustani Dinane , Gonzalez-Briceno Laura , Thalassinos Caroline , Amselem Serge , Legendre Marie , Netchine Irene , Brioude Frederic , Polak Michel

Background: Severe primary insulin-growth factor-1 (IGF1) deficiency (SPIGF1D) is a rare cause of short stature. Diagnosis is based on low basal IGF1 concentration, short stature, normal or elevated growth hormone concentrations and absence of any secondary causes of growth failure. Thanks to advances in next-generation sequencing (NGS) technologies, genetic etiology of SPIGF1D is expanding.Objectives: • Identify th...

hrp0089p2-p207 | GH & IGFs P2 | ESPE2018

Clinical and Preliminary Molecular Description of a Cohort of Patients with Growth Retardation due to Severe Primary IGF1 Deficiency (GROWPATI Study)

Stoupa Athanasia , Viaud Magali , Flechtner Isabelle , Pinto Graziella , Samara-Boustani Dinane , Thalassinos Caroline , Briceno Laura Gabriela Gonzalez , Beltrand Jacques , Netchine Irene , Brioude Frederic , Legendre Marie , Amselem Serge , Polak Michel

Background: Severe primary insulin-growth factor-1 (IGF1) deficiency (SPIGF1D) is a rare cause of growth retardation. Diagnostic criteria include age- and sex-dependent low basal IGF1 levels (<2.5th percentile), height ≤ −3SDS, absence of growth hormone (GH) deficiency and of any secondary causes of growth failure.Objectives: Phenotypic description, follow-up and molecular studies in a cohort of patients diagnosed with growth f...

hrp0089p1-p181 | Growth &amp; Syndromes P1 | ESPE2018

Long Term Effects of Childhood Growth Hormone Treatment on Height and Body Mass Index in Adolescents and Adults with Silver-Russell Syndrome

Lokulo-Sodipe Oluwakemi , Canton Ana P. M. , Giabicani Eloise , Ferrand Nawfel , Child Jenny , Wakeling Emma L. , Binder Gerhard , Netchine Irene , Mackay Deborah J.G. , Inskip Hazel M. , Byrne Christopher D. , Davies Justin H. , Temple I. Karen

Growth hormone (GH) is commonly used during childhood to treat short stature in Silver-Russell syndrome (SRS), but final height and long-term body mass index (BMI) data are limited.Objective: To evaluate height and BMI in older individuals with molecularly confirmed SRS and compare those previously treated with GH to those untreated.Methods: Growth data on individuals aged ≥13 years with SRS were evaluated from UK, French and...

hrp0089fc14.1 | Multisystem Endocrine Disorders | ESPE2018

Awareness and Participation in Rare Disease Registries Within the European Reference Network on Rare Endocrine Conditions (Endo-ERN)

Ali Salma R , Bryce Jillian , Cools Martine , Korbonits Marta , Beun Johan G , Taruscio Domenica , Beuschlein Felix , Danne Thomas , Dattani Mehul , Dekkers Olaf , Linglart Agnes , Netchine Irene , Nordenstrom Anna , Patocs Attila , Persani Luca , Smyth Arlene , Sumnik Zdenek , Visser W Edward , Hiort Olaf , Pereira Alberto M , Ahmed S Faisal

Background: Registries are of key importance for a centre of expertise. Endo-ERN consists of 71 reference centres (RCs) that cover several groups of rare endocrine conditions within 8 themes (www.endo-ern.eu). It is unclear if awareness, participation and availability of registries is uniform for all conditions within Endo-ERN.Objective: To determine the extent of engagement in registries of Endo-ERN members.<p cl...

hrp0086p2-p703 | Endocrinology and Multisystemic Diseases P2 | ESPE2016

French National Healthcare Network for Rare Endocrine Diseases (FIRENDO): The First Year of Activity to Monitor Patients with Rare Endocrine Diseases

Givony Maria , Minime Fanny , Lopes Euma Fortes , Varillon Yvonne , Le Verger Delphine , Ghenim Sabine , Provost Marion , Rahabi-Layachi Haifa , Bouvattier Claire , Polak Michel , Brue Thierry , Nunes Marie-Laure , Delemer Brigitte , Netchine Irene , Mouriquand Pierre , Borson-Chazot Francoise , Bony-Trifunovic Helene , Rodien Patrice , Juliane Leger , Bertherat Jerome

Background: Twenty-three national healthcare networks for rare diseases were identified in 2014 as part of the French scheme on rare diseases. The rare endocrine disease national healthcare network FIRENDO (www.firendo.fr) includes six centers of reference with complementary fields of expertise certified between 2005 and 2006, 30 centers of competence covering all French regions, 18 research and 37 diagnostic laboratories, 5 national learned...

hrp0095fc3.6 | Early Life and Multisystem Endocrinology | ESPE2022

The European Registries for Rare Endocrine Conditions (EuRRECa): the Use of a Core Registry for Collecting Common Data Elements and Clinician and Patient Reported Outcomes

Luisa Priego Zurita Ana , Ali Salma R , Bryce Jillian , Cools Martine , Danne Thomas , Dekkers Olaf M. , Hiort Olaf , Katugampola Harshini , Linglart Agnes , Netchine Irene , Nordenström Anna , Patócs Attila , Pereira Alberto M , Persani Luca , Reisch Nicole , Smyth Arlene , Šumnik Zdenek , Taruscio Domenica , Edward Visser W , M Appelman-Dijkstra Natasha , Faisal Ahmed S

Introduction: The European Registries for Rare Endocrine Conditions (EuRRECa) was created in collaboration with the European Reference Network on Rare Endocrine Conditions (Endo-ERN), the European Society for Paediatric Endocrinology and the European Society of Endocrinology to support the needs of the endocrine community.Aim: To describe the patient population and data entered in the EuRRECa Core Registry between June 2...

hrp0089p1-p179 | Growth &amp; Syndromes P1 | ESPE2018

Beckwith Wiedemann Syndrome: First International Consensus Regarding Diagnosis and Clinical Management

Brioude Frederic , Kalish Jennifer M. , Mussa Alessandro , C. Foster Alison , Bliek Jet , Ferrero Giovanni B. , Boonen Susanne E. , Baker Robert , Bertoletti Monica , Cocchi Guido , Coze Carole , Pellegrin Maurizio De , Hussain Khalid , Krajewska-Walasek Malgorzata , Kratz Christian P. , Bouc Yves Le , Maas Saskia M. , Ounap Katrin , Peruzzi Licia , Rossignol Sylvie , Russo Silvia , Shipster Caroleen , Skorka Agata , Tatton-Brown Katrina , Tenorio Jair , Tortora Chiara , Gronskov Karen , Netchine Irene , Hennekam Raoul C. , Prawitt Dirk , Tumer Zeynep , Eggermann Thomas , Mackay Deborah J. G. , Riccio Andrea , Maher Eamonn R.

Beckwith Wiedemann syndrome (BWS) is a rare overgrowth disorder characterised by macroglossia, exomphalos, lateralised overgrowth, organomegaly, hyperinsulinism, and an increased risk of embryonic tumor during early life. In about 80% of BWS cases, molecular defects are identified at the imprinted 11p15.5 region which contains the IGF2 and the CDKN1C genes (most patients show methylation defects at either imprinting control region IC1 or IC2, or paternal unip...

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...

hrp0084p2-167 | Adrenals | ESPE2015

Hyponatraemia Secondary to Exudative Eczema

Viseras Irene Pilar Fernandez , Ajzensztejn Michal

Background: Classically adrenal insufficiency presents with hyponatraemia and hyperkalaemia, however the differential may be of alternative origin. Atopic dermatitis is a common inflammatory skin disease of infancy and childhood. In severe cases, the exudation from wet lesions can produce serious complications such as infection+very rarely electrolytes abnormalities as seen in this case.Case report: A 6-month-old female infant was referred for endocrine ...

hrp0084p3-768 | Diabetes | ESPE2015

The Missing Link in Neonatal Diabetes

Viseras Irene Pilar Fernandez , Ajzensztejn Michal

Background: Neonatal diabetes mellitus (NDM) presents within 6months of life, is either permanent (PDM) or transient (TND). The incidence is 400 000/live births. Monogenic accounts for the majority of cases. We describe the case of what appears to be a familiar NDM with no current known cause.Case report: EM presented at 3 weeks old. She was born at term, IUGR (2.3 kg) with one day history of diarrhoea, vomiting and anorexia. There was no history of poly...