hrp0092p2-42 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Stuve-Wiedemann Syndrome: A Case Report without Osteorosis

Orbak Zerrin , Yüce Kahraman Çigdem , Orbak Recep , Özden Ayse , Tatar Abdulgani

Stüve-Wiedemann syndrome (SWS) is an autosomal recessive disorder characterized by bowing of the long bones and other skeletal anomalies, neuromuscular abnormalities, dysautonomic symptoms, and respiratory and feeding distress usually resulting in early death.We report a girl, aged 6 years, with SWS. We measured bone mineral density in the lumbar spine, using dual-energy x-ray absorptiometry (DXA) with a densitometer (Hologic). The result is express...

hrp0092p1-48 | Fat, Metabolism and Obesity | ESPE2019

Waist Circumference Triglyceride Index is Useful to Predict Non-alcoholic Fatty Liver Disease in Childhood Obesity

Özcabi Bahar , Demirhan Salih , Aksu Özden , Öztürkmen Akay Hatice , Güven Ayla

Objectives: We aimed to evaluate the performance of waist circumference triglyceride index(WTI) to predict non-alcoholic fatty liver disease(NAFLD) in obese children.Methods: In this study 139 obese children(71 girls) were included(6-18 years). Height, weight, body mass index(BMI), waist circumference(WC), puberty stage, blood pressure, and biochemical values were obtained from the medical records. SDS and percentiles we...

hrp0089p1-p176 | Growth & Syndromes P1 | ESPE2018

Growth Plate Disorders are the Main Cause of Severe Familiar Short Stature in Children Classified and Treated with Growth Hormone as SGA or GHD

Plachy Lukaš , Strakova Veronika , Elblova Lenka , Dušatkova Petra , Obermannova Barbora , Šnajderova Marta , Kolouškova Stanislava , Zemkova Dana , Šumnik Zdeněk , Lebl Jan , Průhova Štěpanka

Introduction: Familiar short stature (FSS) is a common variant of growth with heterogeneous etiology. Children with FSS are often excluded from further check-up and treatment. However, significant number of children with FSS comply even with the European criteria for growth hormone (GH) therapy – patients with SHOX-deficiency, growth hormone deficiency (GHD) or these born short for gestational age (SGA). The aim of the study was to identify genetic etiology of short statu...

hrp0092rfc3.1 | Multi-system Endocrine Disorders | ESPE2019

European Registries For Rare Endocrine Conditions (EuRRECa): Results From The Pilot Phase Of The Platform For e-Reporting Of Rare Endocrine Conditions (e-REC)

Ali Salma , Bryce Jillian , Muir Tom , Okure Akanimo , Cools Martine , Danne Thomas , Dattani Mehul , Dekkers Olaf , Hiort Olaf , Linglart Agnès , Netchine Irène , Nordenström Anna , Patócs Attila , Pereira Alberto , Persani Luca , Reisch Nicole , Smyth Arlene , Šumnik Zdeněk , Taruscio Domenica , Visser W. Edward , Ahmed S.Faisal

Background: EuRRECa (European Registries for Rare Endocrine Conditions) is a new project incorporating the development of a core endocrine registry and the development of an e-reporting programme for rare endocrine conditions (e-REC) that are covered within Endo-ERN ( 24 Endo-ERN centres within 12 countries participated in a pilot phase of e-REC...

hrp0094p2-309 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Early-onset growth hormone treatment in Prader-Willi syndrome attenuates the risk of transition to severe obesity

Kodytkova Aneta , El Lababidi Eva , Čermakova Ivana , Černa Jana , Čižek Jindřich , Dvořakova Marcela , Kalvachova Božena , Magnova Olga , Neumann David , Novotna Dana , Obermannova Barbora , Plašilova Ivana , Pomahačova Renata , Průhova Štěpanka , Strnadel Jiři , Škvor Jaroslav , Šnajderova Marta , Šumnik Zdeněk , Zapletalova Jiřina , Kusalova Kateřina , Šilar Jiři , Kolouškova Stanislava , Zemkova Daniela , Lebl Jan ,

Background: Following a phase of feeding difficulties and underweight in early life, children with Prader-Willi syndrome (PWS) develop hyperphagia and a tendency towards severe obesity. Growth hormone therapy (GH) has been approved in PWS to compensate their growth failure but may exert also additional effects on muscle component and body composition as well.Objectives: We aimed to test if an early initiation of GH thera...