hrp0097p1-5 | Adrenals and HPA Axis | ESPE2023

Glucose profiles of children with classical congenital adrenal hyperplasia: lesson from continuous glucose monitoring

Nguyen Quoc Adrien , Galderisi Alfonso , Kariyawasam Dulanjalee , Stoupa Athanasia , Pinto Graziella , Viaud Magali , Brabant Severine , Beltrand Jacques , Polak Michel , Samara-Boustani Dinane

Background: While the risk for hypoglycemia during acute illness is well described in children with classical congenital adrenal hyperplasia (CAH), there is little evidence for the prevalence of asymptomatic hypoglycemia in CAH. We explored the glucose profile of children with classical CAH by the use of continuous glucose monitoring (CGM).Methods: We conducted an observational study in children aged 1-6 years with a dia...

hrp0097p1-298 | GH and IGFs | ESPE2023

Quality of life at adult height in adolescents and young adults treated by GH

González Briceño Laura , Magali Viaud , Beltrand Jacques , Flechtner Isabelle , Dassa Yamina , Samara-Boustani Dinane , Thalassinos Caroline , Busiah Kanetee , Pinto Graziella , Jaquet Delphine , Polak Michel

Background: short stature can lead to emotional and social stress in children and adolescents. We previously demonstrated in a cohort of 74 children that a one-year growth hormone treatment (GHT) is associated with a significant improvement of quality of life (QoL) especially on emotional and social scales, both in general (PedsQL 4.0) and height-specific (QoLiSSY) questionnaires. Whether this improvement is sustained until adult height remains to be documente...

hrp0097p1-299 | GH and IGFs | ESPE2023

Real-world adherence to growth hormone treatment and catch-up growth in children with growth disorders in France: An interim analysis from the SCOPE study

Polak Michel , Bouhours-Nouet Natacha , Tauber Maithé , van Dommelen Paula , Khebbeb Sarah , Castello-Bridoux Claire , De Buyst Valerie , Koledova Ekaterina , Linglart Agnès

Background: The SCOPE French retrospective study follows children affected with growth hormone (GH) disorders treated with recombinant human GH (r-hGH) therapy via the easypod® connected injection device for up to 5 years.Aim: To show the results from an interim analysis of the SCOPE study analysing adherence to r-hGH therapy in a real-world setting and its effect on catch-up growth.Met...

hrp0098p1-45 | Fat, Metabolism and Obesity 1 | ESPE2024

EARLIE – Pilot study for universal familial hypercholesterolemia screening in Luxembourgish primary school children

Becker Marianne , Adamski Aurelie , Fandel Françoise , Vaillant Michel , Wagner Kerstin , Droste Dirk , Hein Steve , Mendon Priyanka , Bocquet Valéry , de Beaufort Carine

Introduction: Familial hypercholesterolaemia (FH) is a frequent (1:300) autosomal dominantly inherited condition which causes premature cardio–cerebrovascular disease (CVD). Early detection and treatment can prevent the development of CVD and premature death. Our pilot study aimed to investigate the feasibility and efficacy of a screening based on a capillary blood test performed during a school medicine visit.Methods:</str...

hrp0098p1-156 | GH and IGFs 2 | ESPE2024

Real-world adherence to growth hormone treatment and catch-up growth in children with growth disorders from the French SCOPE study

Polak Michel , Bouhours-Nouet Natacha , van Dommelen Paula , Berger Sophie , Castello-Bridoux Claire , Untereiner Raphaël , Koledova Ekaterina , Tauber Maithé , Linglart Agnès

Background: The Study and Collection of Observational data for Patients with easypod® Connect (SCOPE) French retrospective study follows children with growth disorders treated with recombinant human growth hormone (r-hGH) therapy via the easypod® connected injection device for up to 5 years.Aim: To show the results from the SCOPE study analysing the adherence to r-hGH therapy in a real-world setting and its effec...

hrp0094p1-138 | Growth Hormone and IGFs A | ESPE2021

Safety and effectiveness of pediatric growth hormone therapy: Results from the full cohort in KIGS

Maghnie Mohamad , Ranke Michael B , Geffner Mitchell E , Vlachopapadopoulou Elpis , Dorr Helmuth G , Wikland Kerstin Albertsson , Ibanez Lourdes , Carlsson Martin , Cutfield Wayne , Rooman Raoul , Gomez Roy , Wajnrajch Michael P , Linglart Agnes , Stawerska Renata , Polak Michel , Grimberg Adda ,

Objective: KIGS (Pfizer International Growth Survey) was a large, international database of pediatric patients who received recombinant human growth hormone (rhGH) as prescribed in real-world clinical settings. This analysis evaluated the long-term safety and efficacy data from all participants until KIGS close in 2012.Methods: Children with growth disorders and treated with rhGH (Genotropin® [somatropin]...

hrp0095p1-34 | Diabetes and Insulin | ESPE2022

Early treatment of neonatal diabetes with oral glibenclamide suspension (Amglidia®) in an extremely preterm infant: evidence for efficacy, safety and easiness.

Galderisi Alfonso , Kermorvant-Duchemin Elsa , Daruich Alejandra , Alice Bonnard Adeline , Lapillonne Alexandre , Aubelle Marie-Stéphanie , Perrella Bruna , Cave Héléne , Berdugo Marianne , Jarreau Pierre-Henri , Polak Michel , Beltrand Jacques

Background: Early treatment of neonatal diabetes with sulfonylureas has shown to improve neurodevelopment, beyond the demonstrated efficacy on glycemic control. Several barriers still prevent its use as an early treatment in preterm babies including the limited availability of a suitable galenic form of glibenclamide. Recently, an oral suspension of glibenclamide (Amglidia®) has been approved for use in EU.Methods: W...

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...

hrp0089p2-p207 | GH &amp; 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...

hrp0086ha2 | BOREALIN Mutations in Thyroid Dysgenesis Reveal a New Function of this Protein in Cell Adhesion and Migration | ESPE2016

BOREALIN Mutations in Thyroid Dysgenesis Reveal a New Function of this Protein in Cell Adhesion and Migration

Carre Aurore , Stoupa Athanasia , Karyiawasam Dulanjalee , Gueriouz Manelle , Ramond Cyrille , Gaujoux Sebastien , Glaser Nicolas , Leger Juliane , Zenaty Delphine , Nitschke Patrick , Bole-Feysot Christine , Parisot Melanie , Hubert Laurence , Scharfmann Raphael , Munnich Arnold , Besmond Claude , Taylor William , Polak Michel

Background: Congenital hypothyroidism is primarily due to thyroid dysgenesis (TD). The genes implicated in TD, account for a small number of patients with monogenic forms, less than 5%. Borealin is a major component of the Chromosomal Passenger Complex, an essential regulator of mitosis.Objective and hypotheses: To understand the role of Borealin mutations found in patients with TD.Method: We performed whole exome sequencing (WES) ...