hrp0089p1-p162 | Growth & Syndromes P1 | ESPE2018

Comparing the Cumulative Dose of Growth Hormone Therapy Using Body Weight-Based Dosing Versus Body Surface Area-Based Dosing in Children with Turner Syndrome – Data from the ANSWER Study

Backeljauw Philippe , Geffner Mitchell , Ross Judith , Holot Natalia , Ostrow Vlady

Background and Objective: The American Norditropin Studies: Web-Enabled Research (ANSWER) Program is a long-term, US-based, non-interventional study designed to collect information on the effectiveness and safety of Norditropin® growth hormone (GH). From June 2002 to September 2016, 20,204 pediatric patients were enrolled by their treating physicians, including 1,003 patients with Turner syndrome (TS). This analysis compares cumulative GH doses when adjusting G...

hrp0092p2-178 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Adult Height of Patients Enrolled in PATRO Children, An Ongoing Observational Study of the Long-term Safety And Effectiveness Of Omnitrope®

Kanumakala Shankar , Backeljauw Philippe , Otfried Schwab Karl , Loche Sandro , Zabransky Markus , Zouater Hichem

Objectives: PATRO Children is an observational, international, longitudinal study of the long-term safety of a recombinant human growth hormone (rhGH; Omnitrope®, Sandoz). The effect of rhGH treatment on growth and adult height (AH) is assessed as a secondary objective of the study.Methods: This ongoing study is conducted in hospitals and specialised endocrinology clinics across 14 countries. The study po...

hrp0089p1-p163 | Growth & Syndromes P1 | ESPE2018

The Association between Growth Hormone Dose and Short-Term Height Outcomes in a Large Cohort of Paediatric Patients with Turner Syndrome: Real-World Data from the NordiNet® International Outcome Study (IOS) and ANSWER Program

Blair Jo , Rohrer Tilman R. , Tonnes Pedersen Birgitte , Roehrich Sebastian , Backeljauw Philippe

Objectives: The recently updated clinical practice guidelines for Turner syndrome (TS) recommend a growth hormone (GH) dose of 45–50 μg/kg/day, increasing to 68 μg/kg/day in case adult height potential is substantially compromised (1). Real-world data on the modifiable factors impacting near-adult height in GH-treated TS patients are limited, but short-term responsiveness to GH has been suggested as one factor (2). We, therefore, analysed the impact of GH dose o...

hrp0086fc8.3 | Growth: Clinical | ESPE2016

PAPP-A2 Gene Mutation Effects on Glucose Metabolism and Bone Mineral Density and Response to Therapy with Recombinant Human IGF-I

Salcedo Catalina Cabrera , Hwa Vivian , Tyzinski Leah , Andrew Melissa , Wasserman Halley , Backeljauw Philippe , Dauber Andrew

Background: PAPP-A2 (pregnancy-associated plasma protein A2) deficiency, caused by homozygous mutations in the PAPP-A2 gene results in a novel syndrome of significant growth failure. PAPP-A2 cleaves IGF binding proteins 3 and 5, thereby freeing IGF-I from its ternary complex and allowing it to become biologically active. We recently reported the first two families with PAPP-A2 mutations. Response to recombinant human IGF-I (rhIGF-1) in these patients is unknown.<p class="a...

hrp0086rfc14.3 | Growth : Mechanisms | ESPE2016

Whole Exome Sequencing Identifies a GH1 Gene Mutation Causing Familial Isolated Growth Hormone Deficiency with Normal Peak Growth Hormone Concentrations

Salcedo Catalina Cabrera , Hwa Vivian , Tyzinski Leah , Andrew Melissa , Backeljauw Philippe , Dauber Andrew

Background: Familial isolated growth hormone deficiency (IGHD) type II is autosomal dominantly inherited and caused by splice-site mutations and nucleotide substitutions in the GH1 gene. The missense mutation R183H is a well-described genetic variant that causes familial IGHD type II. Individuals with this mutation have releasable GH stores, but GH secretion is severely reduced resulting in short stature.Objective and hypotheses: This study aimed to repo...

hrp0086wg6.5 | ESPE Paediatric and Adolescent Gynaecology Working Group (PAG) | ESPE2016

Benign Breast Conditions in Adolescent Girls

Touraine Philippe

Benign breast diseases (BBD) have always been neglected in comparison to cancer, despite the fact that there are many more patients with such diseases than patients presenting to a breast clinic for cancer, especially in young women. So far, BBD have been the subject of a relatively few isolated and unconnected studies, and earlier related work has often been ignored. This situation has led to a great deal of confusion, especially because different authors have their own nomen...

hrp0094s12.2 | Epigenetics and Genetics in Endocrine Disorders | ESPE2021

The role of genetic analysis in primary ovarian failure

Touraine Philippe ,

Primary (premature) ovarian insufficiency (POI) is defined as a loss of ovarian activity before the age of 40, and is characterized by menstrual disturbances (amenorrhea or oligomenorrhea) with elevated gonadotropins (follicle-stimulating hormone [FSH] ≥ 25 IU/L) and low serum estradiol levels. The incidence of POI is around 1 per 100 women overall, and 1 per 1000 women under the age of 30 years. POI leads to infertility and an increased risk of osteoporosis and cardiova...

hrp0092ha2 | Partial CRISPR/Cas9 IL1R1 &amp; IFNGR1 Knock-Down Improves ß-Cell Survival and Function Under Cytokine-Induced Inflammation | ESPE2019

Partial CRISPR/Cas9 IL1R1 & IFNGR1 Knock-Down Improves β-cell Survival And Function Under Cytokine-Induced Inflammation

Daems Caroline , Vanderroost Juliette , Sokal Etienne , Lysy Philippe

Type 1 diabetes (T1D) is a chronic disease characterized by the autoimmune destruction of pancreatic β cells. This destruction is mediated by lymphocytes T helper and cytotoxic, and by the action of the pro-inflammatory cytokines IL1β, IFNγ and TNFa inside the islets of Langerhans. We propose a new approach to alleviate islet inflammation by targeting pro-inflammatory cytokine receptors. Our hypothesis is that the downregulation of inflammatory pathways ma...

hrp0092p3-84 | Diabetes and Insulin | ESPE2019

A Low-Carbohydrate Diet Improves Metabolic Control in a Type 1 Diabetic Child Without Side Effects

Klee Philippe , Stasinaki Aikaterini , Gozzi Tiziana , Schwitzgebel Valérie

Background and Aims: Despite intensive insulin treatment of type 1 diabetes (T1DM), metabolic control remains suboptimal, especially in children. In an attempt to optimize postprandial glycaemia, some families decrease the amount of carbohydrates contained in a meal. While "low-carbohydrate diets" may improve metabolic control in some selected populations, controversies remain around the risk of hypoglycemia and ketoacidosis and the impact of such diet...

hrp0089rfc3.2 | Diabetes and Insulin 1 | ESPE2018

Personalized and Predictive Medicine for Pediatric Diabetes Through a Genetic Test Using Next Generation Sequencing

Schwitzgebel Valerie , Klee Philippe , Dirlewanger Mirjam , Blouin Jean-Louis

Introduction: Monogenic diabetes (MD) accounts for at least 3% of all pediatric diabetes cases. MD is often misdiagnosed as type 1 or type 2 diabetes, because of its wide phenotypic spectrum. While clinical and biochemical parameters can suggest MD, a definitive diagnosis requires genetic analysis. We conducted a broad study to diagnose MD cases. Then, with the gained knowledge, we designed a new diagnostic to...