hrp0084p1-54 | Diabetes | ESPE2015

‘BestPWS EU’: A Phase 3 Study in Adolescent and Adult Patients With PWS in Europe

Tauber Maithe , Kim Terri , Kreher Nerissa , Kim Dennis , Hauffa Berthold

Background: Prader–Willi Syndrome (PWS) is a complex genetic disease; one hallmark of the disease is failure to regulate hunger and metabolism. Hyperphagia and severe obesity contribute significantly to the morbidity and mortality of this disease. Methionine aminopeptidase 2 (MetAP2) inhibition reduces fat biosynthesis and stimulates fat oxidation and lipolysis. Beloranib is a selective and potent MetAP2 inhibitor. In a 4-week phase 2, placebo-controlled, proof-of-concept...

hrp0084p2-500 | Perinatal | ESPE2015

Birth Incidence of Prader-Willi Syndrome in France

Bar Celine , Diene Gwenaelle , Molinas Catherine , Casper Charlotte , Tauber Maithe

Background: Prader-Willi syndrome (PWS) is a rare and complex genetic disorder characterised in neonates by hypotonia and feeding problems. French birth incidence has never been reported.Objective and hypotheses: To evaluate incidence of PWS at birth in France.Method: Identification of patients with a molecular diagnosis of PWS born between January 1st, 2013 and December 31st, 2013 was obtained by combining va...

hrp0089p1-p190 | Multisystem Endocrine Disorders P1 | ESPE2018

Overview of Leading Causes of Death among French Patients with Prader-Willi Syndrome, 2004–2014

Liz Pacoricona Alfaro Dibia , Lemoine Perrine , Molinas Catherine , Diene Gwenaelle , Arnaud Catherine , Tauber Maithe

Introduction: Prader-Willi Syndrome (PWS) is a complex neurodevelopmental genetic disease comprising multiples cognitive, behavioural and endocrine abnormalities. This rare syndrome is one of the most common known reasons of syndromic obesity, a major cause of morbimortality among this population. In the last 20 years, substantial improvements have been made regarding the diagnosis, treatment and management of patients with PWS. Along those progresses, national policies were d...

hrp0086fc15.3 | Late Breaking | ESPE2016

Contribution of Next Generation Sequencing Approach for Management of Congenital Hypothyroidism with Eutopic Thyroid Gland

Savagner Frederique , Gennero Isabelle , Edouard Thomas , Cartault Audrey , Tauber Maithe , Petit Isabelle Oliver

Background: Congenital hypothyroidism (CH) is referred to dyshormonogenesis for 15 to 30%. Homozygous mutations associated have been demonstrated in DUOX2, TPO, TG, SLC5A5 (NIS), SLC26A4 (Pendred), DUOXA2, and IYD (DEHAL1) genes.Objective and hypotheses: Previous studies focusing on one or few thyroid-specific genes have proved not to be comprehensive enough for understanding physiopathological mechanisms of HC with dyshormonogenesis. Emerging diagnostic...

hrp0086p1-p743 | Pituitary and Neuroendocrinology P1 | ESPE2016

Proton Therapy as a Promising Therapeutic Option for Children with Aggressive and Uncontrolled Pituitary Macro Adenoma: A Case Report

Petit Isabelle Oliver , Bertozzi Anne-Isabelle , Boetto Sergio , Sevely Annick , Tauber Maithe , Caron Philippe , Alapetite Claire

Background: Non functioning pituitary macro adenoma is rare during childhood. Therapeutic options are reduced to surgery and radiotherapy. Proton therapy is a particle therapy that uses a beam of protons to irradiate the tissue with the chief advantage that as a charged particle the dose is deposited over a narrow range and there is minimal exit dose.Objective and hypotheses: Proton therapy is largely used in France for paediatric craniopharyngiomas irra...

hrp0084p3-585 | Adrenals | ESPE2015

Living with Adrenal Hyperplasia for Children in Primary School between 6 and 11 Years; Educational Innovation and Design of a Learning Tool for Therapeutic Education

Pienkowski Catherine , Cartault Audrey , Durand Adelaide , Ajaltouni Zeina , Jouret Beatrice , Tauber Maithe

Background: Congenital adrenal hyperplasia (CAH) is a rare chronic disease diagnosed and treated from birth. Hormone replacement therapy is essential to lead a normal life and must be adapted to stress. Poor compliance to treatment or inefficacy is life threatening leading to high risk of by dehydration and hypoglycaemia.Objective: The objective of therapeutic education sessions is based on the skills needed for regular intake of pills and recognition of...

hrp0084p3-1197 | Thyroid | ESPE2015

Congenital Hypothyroidism Incidence and Dysgenesis or Dyshormonogenesis Prevalence in a Large Infants Cohort from South of France

Petit Isabelle Oliver , Lobinet Emilie , Gennero Isabelle , Edouard Thomas , Cartault Audrey , Tauber Maithe

Background: Congenital hypothyroidism (CH) is the most frequent endocrine disease in infants with prevalence ratio in the range of 1:2000–1:4000 new-borns. The disorder can be permanent (CHP) or transient (CHT). CH can be classified into two main groups: Dysgenesis, which accounts classically for 80–85% of cases and dyshormonogenesis for remaining 15–20%. From the last decade, studies described a upward trend for CH prevalence and changes in groups’ proport...

hrp0094p2-352 | Pituitary, neuroendocrinology and puberty | ESPE2021

Patients with PWS and related syndromes display differentially methylated regions involved in neurodevelopmental and nutritional trajectory.

Salles Juliette , Franchitto Nicolas , Bieth Eric , Eddiry Sanaa , Molinas Catherine , Salles Jean Pierre , Tauber Maithe ,

Background: Prader-Willi syndrome is a rare genetic neurodevelopmental disorder caused by a paternal deficiency of maternally imprinted gene expression located in the chromosome 15q11-q13 region. Previous studies have demonstrated that several classes of neurodevelopmental disorders can be attributed to either over- or under-expression of specific genes that may lead to impairments in neuronal generation, differentiation, maturation and growth. Epigenetic chan...

hrp0084p1-152 | Miscelleaneous | ESPE2015

Noonan Syndrome-Causing SHP2 Mutants Inhibit Murine Growth Plate Chondrogenesis and Bone Development: Role of Ras/MAPK Hyperactivation

Yart Armelle , Tajan Mylene , Capilla Florence , Beton Nicolas , Davignon Jean-Luc , Tauber Maithe , Salles Jean-Pierre , Edouard Thomas

Background: Growth retardation affects more than 80% of patients with Noonan syndrome (NS; MIM#163950), one of the most common developmental disorders, but its origin remains poorly understood. We have demonstrated that mutations of the tyrosine phosphatase SHP2, that are responsible for half the cases of NS, impair the systemic production of Insulin-like growth factor 1 (IGF1), the biological mediator of GH acting on growth plate, through a hyperactivation of the Ras/Mitogen-...

hrp0084p3-1101 | Pituitary | ESPE2015

Baseline Characteristics, GH Response, and Long term Evolution in 67 Patients with Pituitary Stalk Interruption According to the Initial Presentation

Bar Celine , Zadro Charline , Diene Gwenaelle , Oliver Isabelle , Pienkowski Catherine , Jouret Beatrice , Audrey Cartault , Sevely Annick , Tauber Maithe , Edouard Thomas

Background: Pituitary stalk interruption syndrome (PSIS) is a frequent cause of congenital hypopituitarism. Patients are initially referred for the evaluation of hypoglycemia during the neonatal period or growth retardation during infancy or childhood. PSIS are either associated with extra-pituitary malformations (EPM+) or isolated (EPM−).Objective and hypotheses: To compare baseline characteristics, GH response, and long term evolution in patients...