hrp0097rfc4.1 | Growth and syndromes (to include Turner syndrome) | ESPE2023

Functional networks reveal pathways linking early growth to childhood blood pressure in the Manchester BabyGRO Study

Perchard Reena , Garner Terence , Stevens Adam , Higgins Lucy , Johnstone Edward , Clayton Peter

Background: Many studies have associated being born small for gestational age (SGA) [and by implication having suboptimal fetal growth (SFG)] to childhood cardiometabolic risk markers. However, not all growth-restricted pregnancies result in SGA. In the Manchester BabyGRO study, we focussed on pregnancies at risk of SFG with most babies born AGA, and using transcriptomic and metabolomic data we have identified pathways related to higher child systolic blood pr...

hrp0089p2-p236 | GH & IGFs P2 | ESPE2018

Artificial Neural Networks for Prediction Final Height in Children with growth Hormone Deficiency

Gavrilova Anna , Nagaeva Elena , Rebrova Olga , Shiryaeva Tatiana , Peterkova Valentina

Background: Mathematical models predicting final height (FH) and its standard deviation score (SDS) in children with growth hormone deficiency is an important tool for clinicians to manage treatment process. Previously developed models do not have enough accuracy or are not good enough for practical use.Objective and hypotheses: We used four binary and seven continuous predictors available at the time of diagnosis and start of therapy and developed multi...

hrp0084p3-1102 | Pituitary | ESPE2015

Clinical Characteristics of Children with Congenital Combined GH Deficiency without Associated Syndrome in Belgium

Zeevaert Renate , Verlinde Franciska , Thomas Muriel , De Zegher Francis , Cools Martine , Heinrichs Claudine , Beauloye Veronique , France Annick , Lebrethon Marie-Christine , Massa Guy

Background: Despite the fact that pituitary stalk interruption syndrome (PSIS) is a frequent finding in children with combined GH deficiency (CGHD), clinical data are still limited and the growth response to GH treatment has not been evaluated in comparison with CGDH with a normal stalk.Objective and hypotheses: To report the clinical and hormonal findings and evaluate the short term growth response to GH in Belgian children with congenital non-syndromat...

hrp0089fc14.1 | Multisystem Endocrine Disorders | ESPE2018

Awareness and Participation in Rare Disease Registries Within the European Reference Network on Rare Endocrine Conditions (Endo-ERN)

Ali Salma R , Bryce Jillian , Cools Martine , Korbonits Marta , Beun Johan G , Taruscio Domenica , Beuschlein Felix , Danne Thomas , Dattani Mehul , Dekkers Olaf , Linglart Agnes , Netchine Irene , Nordenstrom Anna , Patocs Attila , Persani Luca , Smyth Arlene , Sumnik Zdenek , Visser W Edward , Hiort Olaf , Pereira Alberto M , Ahmed S Faisal

Background: Registries are of key importance for a centre of expertise. Endo-ERN consists of 71 reference centres (RCs) that cover several groups of rare endocrine conditions within 8 themes (www.endo-ern.eu). It is unclear if awareness, participation and availability of registries is uniform for all conditions within Endo-ERN.Objective: To determine the extent of engagement in registries of Endo-ERN members.<p cl...

hrp0097p1-576 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Transition from Paediatric to Adult Care in Differences of Sex Development (DSD) – Results from the German Network “DSDCare”

Döhnert Ulla , Helge Kathrin-Bettina , Reisch Nicole , Ellerkamp Verena , Kutscheidt Ronja , Kumst Anjo , Roggemann Eleonore , Jürgensen Martina , Balke Thomas , Heidenreich Andreas , Hiort Olaf

Introduction: The aim of the project “DSDCare” is to implement standardized care for people with DSD following national and international guidelines and to evaluate structural, process and outcome quality of care at 10 specialized centres in Germany from May 2020 till June 2023. Transition from paediatric to adult care is a crucial phase in chronic and rare conditions. In DSD, “loss to follow-up” is usually not associated with acute com...

hrp0084p2-421 | GH &amp; IGF | ESPE2015

Application of Neural Networks for Final Height Prediction Based on Pre-Treatment Data in Children with GH Deficiency Treated with GH

Smyczynska Joanna , Smyczynska Urszula , Stawerska Renata , Lewinski Andrzej , Tadeusiewicz Ryszard , Hilczer Maciej

Background: Prediction of the effectiveness of GH therapy in children with short stature is an important issue. Artificial neural networks (ANN) seem to be promising tool for this purpose, not requiring any assumption on functions linking independent and dependent variables.Objective and hypotheses: The aim of the study was to compare ANN models of GH therapy effectiveness, based on the data available at therapy onset with multiple linear regression (MLR...

hrp0084fc5.4 | Endocrine Oncology/Turner | ESPE2015

X Chromosome Gene Dosage and the Risk of Developing Congenital and Acquired Traits in Turner Syndrome: a Cross-Sectional Database Analysis of the French National Rare Disease Network

Zenaty Delphine , Fiot Elodie , Boizeau Priscilla , Haignere Jeremie , Santos Sophie Dos , Carel Jean Claude , Leger Juliane , French Turner Syndrome Study Group

Background: The broad spectrum of associated diseases underlying the diverse phenotypes of patients with Turner syndrome (TS) has been extensively described. However, the underlying pathophysiological mechanisms remain unknown. Few studies have analyzed congenital and acquired diseases as a function of karyotype, and conflicting results have been obtained, calling into question the role of haploinsufficiency for genes located on the X chromosome.Objectiv...

hrp0094p1-180 | Growth Hormone and IGFs B | ESPE2021

The miRNA network and the interplay between growth and cancer regulating pathways in prepubertal patients with idiopathic isolated growth hormone deficiency (IGHD) on growth hormone (GH) treatment

Catellani Cecilia , Ravegnini Gloria , Sartori Chiara , Righi Beatrice , Poluzzi Silvia , Predieri Barbara , Iughetti Lorenzo , Angelini Sabrina , Elisabeth Street Maria ,

GH and IGF1 regulate cell proliferation, differentiation and apoptosis playing a key role in growth, and leading to consider potential oncogenic effects of GH. To evaluate possible oncogenic risks in GHD patients who underwent GH replacement therapy, the SAGhE consortium was created. The data collected have not yielded definite conclusions and continuous surveillance is yet required. MiRNAs are regulators of gene expression, and are involved in many biological processes. We ai...

hrp0086p2-p499 | Fat Metabolism and Obesity P2 | ESPE2016

Multidisciplinary Care Management of Pediatric Obesity and Factors Associated with Better Outcomes

Thibault Helene , Carriere Caroline , Cabaussel Cassandre , Bader C , Barberger-Gateau Pascale , Barat Pascal

Background: RePPOP Aquitaine (network of prevention and treatment of pediatric obesity in southwest France) has developed a multidisciplinary approach to treat childhood obesity based on multicomponent lifestyle interventions and family-based actions.Objective and hypotheses: This study assessed the impact of the care management proposed by RePPOP Aquitaine and investigated factors associated with better outcomes.Method: The impact...

hrp0089p2-p220 | GH &amp; IGFs P2 | ESPE2018

The ZOMATRIP Study: Four Year Combination Therapy of GH and GnRHa in Girls with a Short Predicted Adult Height During Early Puberty: Adult Height Outcome

Dotremont Hilde , France Annick , Heinrichs Claudine , Tenoutasse Sylvie , Brachet Cecile , Cools Martine , De Waele Kathleen , Massa Guy , Lebrethon Marie-Christine , Gies Inge , Van Besien Jesse , Derycke Christine , De Schepper Jean , Rooman Raoul

Background: A combination of GH and a gonadotropin releasing hormone analogue (GnRH a) is hypothesized to improve adult height in children with a poor adult height prediction.Study design: In this multicenter study, 24 girls in early puberty (bone age ≤12.0 y),with a predicted adult height ≤151.0 cm and normal body proportions were treated with GH (Zomacton) 50 μg/kg per day and triptorelin (Gonapeptyl) 3.75 mg/month SC or IM (for 4 year...