hrp0097p1-110 | Growth and Syndromes | ESPE2023

Comparison of long-term height outcomes in pediatric patients with growth hormone deficiency receiving once weekly somatrogon with those of matched patients treated with once-daily somatropin in the Kabi/Pfizer International Growth Study (KIGS)

Paliwal Yuvika , Carlsson Martin , Zhang Richard , Lee Peter , Korth-Bradley Joan , Taylor Carrie , Cara Jose

Objectives: Somatrogon is a long-acting recombinant human growth hormone (GH) approved in the EU and other countries for once-weekly treatment of pediatric patients with GH deficiency (GHD). In this analysis, height outcomes of somatrogon-treated patients in a phase 3 trial (CP-4-006) were compared with historical data from matched somatropin-treated patients enrolled in KIGS.Methods: In trial CP-4-006, patients were ran...

hrp0089p2-p352 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

A Systematic Review of Reported Outcomes for Hypospadias

Leunbach Tina Lund , O'Toole Stuart , Springer Alexander , Williamson Paula , Ahmed S Faisal

Introduction: The outcome of hypospadias is considered to be primarily dependent on the underlying aetiology, its surgical management and the duration of follow-up. However, currently, there is little consensus on what set of parameters are essential and clinically feasible for assessment of outcome.Aim: To facilitate the development of a core outcome set for hypospadias by assessment of the range of outcomes reported in boys undergoing surgery.<p cl...

hrp0097p2-250 | Late Breaking | ESPE2023

Update on the Etiological Diagnosis of Central Precocious Puberty in Both Sexes

Canton Ana , Claudia Latronico Ana , Montenegro Luciana , Piovesan Maiara , Faria Aline , Tinano Flavia , Pedrosa Ludmila , Seraphim Carlos , Mendonça Berenice , Brito Vinícius

Background: The etiological investigation of central precocious puberty (CPP) has improved with more precise clinical approach, neuroimaging, and genetic studies. CPP can be caused by congenital or acquired conditions, with or without central nervous system (CNS) lesions. More recently, genetic and epigenetic disorders have been identified in children with CPP, previously classified as idiopathic.Objective: To update the...

hrp0092p1-235 | Growth and Syndromes (to include Turner Syndrome) (1) | ESPE2019

Development of a Measure for the Impacts of Achondroplasia on Children's Daily Functioning and Well-Being

Pfeiffer Kathryn M. , Brod Meryl , Viuff Dorthe , Ota Sho , Gianettoni Jill , Leff Jonathan

Background: Research on the impacts of achondroplasia on children's functioning and well-being is limited. The purpose of the study was to investigate the impacts of achondroplasia on children's daily lives to support the development of an impact measure of achondroplasia on children's functioning and well-being.Methods: Individual telephone interviews and one parent focus group were conducted in the United S...

hrp0095p1-241 | Diabetes and Insulin | ESPE2022

3 Screen ICA TM Elisa - A New Tool for Identify Pre-Clinical Diabetes in First-Degree Relatives of Patients with Type 1 Diabetes (Pre-D1Abetes Study)

Noiszewska Klaudyna , Bossowski Artur , Zasim Aneta , Jamiołkowska-Sztabkowska Milena , Polkowska Agnieszka , Mazur Artur , Brzuszek Marta , Fichna Piotr , Niechciał Elżbieta , Szalecki Mieczysław , Wysocka-Mincewicz Marta , Myśliwiec Małgorzata , Żalińska Magdalena , Szmigierko-Kawko Małgorzata , Noczyńska Anna , Zubkiewicz-Kucharska Agnieszka , Chobot Agata , Górska-Flak Karolina , Ochab Agnieszka , Szadkowska Agnieszka , Wyka Krystyna , Pietrzak Iwona , Pilecki Olgierd , Jarosz-Chobot Przemysława , Rusak Ewa , Beń-Skowronek Iwona , Sieniawska Joanna , Szypowska Agnieszka , Nazim Joanna , Walczak Mieczysław , Jóźwa Anita , Marcinkiewicz Katarzyna , Powell Michael , Amoroso Marie , Rees Smith Bernard , Furmaniak Jadwiga

Background and Aims: A pre-clinical stage of type 1 diabetes (T1D) often precedes by many years the overt clinical symptoms. Diagnosis during this period is often difficult and is based on the presence of specific islet autoantibodies in the subject's blood. First-degree relatives of patients with T1D were tested using the 3 Screen ICA TM ELISA (RSR Ltd) for combined testing for autoantibodies to GAD65 (glutamic acid decarboxylase, 65kDa isoform), ZnT8 (z...

hrp0086p2-p264 | Diabetes P2 | ESPE2016

Clinical, Biochemical, Genetic and Immunological Features of Mexican Recent-Onset Type 1 Diabetes Patients

Perez Marco Antonio Morales , Herrera Blanca Estela Aguilar , Castaneda Mayra Cristina Torres , Paulin Lorena Lizarraga , Diaz Rita Angelica Gomez

Background: The pathogenesis of type 1 diabetes (T1D) is multifactorial, caused by interaction of genetic, epigenetic and environmental factors that lead to the production of antibodies early on life and a gradual loss of insulin secretory capacity of the pancreas. The genetics and immunological characteristics of our T1D population have not been precisely identified.Objective and hypotheses: To compare biochemical, genetic and immunological features of ...

hrp0082p3-d2-781 | Fat Metabolism &amp; Obesity (1) | ESPE2014

Relationship Between Adiposity Degree and Physical Activity and Inactivity Among Children and Adolescents

Leis Rosaura , Vazquez-Cobela Rocio , Bedoya Juan Jose , Seoane Luisa Maria , Barja-Fernandez Silvia , Aguilera Concepcion , Olza Josune , Bueno Gloria , Gil-Campos Mercedes , Castro-Feijoo Lidia , Moreno Luis , Gil Angel , Tojo Rafael

Introduction: The highest prevalence of children and adolescents with obesity in Europe is observed in the south countries. This epidemic is related to unhealthy eating patterns, decreased physical activity and increased inactivity.Objective: To determine the relationship between adiposity degree and physical activity and inactivity in children and adolescents.Methods: 338 children from 6 to 8 years of age (x=11.11 years);...

hrp0082p3-d3-836 | Growth (2) | ESPE2014

What is the Profile of Gigantism: Seven Observations

Achir Samia , Semrouni Mourad

Background: Gigantism is a condition characterized by excessive growth and height significantly above average; it is usually caused by a tumor on the pituitary gland. In some cases the condition can be passed on genetically through a mutated gene.Objective and hypotheses: Describe clinical, hormonal, and morphological profile of seven children with gigantism. Mean age=14 years (9–16), age of onset of symptoms 12 years. Tall stature (50%), and brain ...

hrp0084fc13.3 | Thyroid | ESPE2015

Targeted Next-Generation Sequencing Demonstrates High Frequency of ‘Dyshormonogenesis Genes’ Mutations in Severe Congenital Hypothyroidism

Makretskaya Nina , Bezlepkina Olga , Kolodkina Anna , Kiyaev Alexey , Vasilyev Evgeny , Petrov Vasily , Kalinenkova Svetlana , Duhoreva Olga , Malievsky Oleg , Dedov Ivan , Tiulpakov Anatoly

Background: 80–85% of cases of congenital hypothyroidism (CH) are shown to be due to thyroid dysgenesis, while 15–20% are due to dyshormonogenesis. At least 12 candidate genes are associated with congenital hypothyroidism (CH), however its molecular basis is defined in fewer than 10% of the patients (ESPE consensus, 2014). Recent studies suggest that using a next generation sequencing (NGS) approach may increase the mutation yield in CH.Objecti...

hrp0097p1-196 | Thyroid | ESPE2023

Clinical Pattern and management attitudes of Paediatric Graves' Disease in Saudi Arabia, A 10-Year Experience

Mulla Jaazeel , Al Shaikh Adnan , Aldubayee Mohammad , AlNoaim Khalid , Hakim S , Babiker Amir

Introduction: Graves’ disease (GD) is a leading cause of hyperthyroidism in all age groups. Clinical presentation, methods and overall goals of therapy can be variable in different age groups. We aimed to study the prevalence of GD, the attitude of treating physicians towards management preferences as well as patient response pattern amongst children and adolescents with GD in Saudi Arabia.Methods: A cross sectiona...