ESPE Abstracts

Background: CrescNet is a large data base used to document children’s growth and weight development in more than 300 primary care practices and in eight specialized paediatric endocrinological centres in Germany.Aims and method: We investigated 3281 patients with IGF1 measurements during their consultations and subsequent checkups. We analysed 2269 children without an indication for rhGH treatment and 1012 who were subsequently treated with rhGH. A ...

Background: In adults it has been shown, that GHmax values after provocation testing are negatively correlated to BMI. Preliminary studies in children have found a similar correlation. Consequently children with elevated BMI would be overdiagnosed with GHD. However, studies so far were too small to define this correlation exactly. This would be a condition to judge whether and to what extend adjustments of GH cut-off levels should be considered also in children with elevated B...

Background and Objectives: Being born small for gestational age (SGA) as well as growth hormone (GH) treatment are associated with a disturbed glucose-insulin metabolism. We aimed to investigate whether SGA patients have a higher risk of developing an impaired glucose-insulin metabolism under GH treatment in comparison to children with an isolated growth-hormone deficiency (iGHD), to children with obesity and a healthy control group.<str...

Background: Approximately 5 % of children are born SGA (birth weight/length below -2 SDS), anyway most experience an early spontaneous catch-up growth (CUG). About 15 % remain short during childhood and end up as short adults. Growth hormone (GH) treatment in general improves their growth.Objectives: We analyzed growth patterns in four SGA cohorts from two large databases: Those with spontaneous CUG, those who failed to ...

Background: CrescNet is a European pseudonymous paediatric registry of longitudinal measurements used to screen for growth disorders including achondroplasia (ACH). ACH is a rare genetic condition caused by a gain-of-function variant in the fibroblast growth factor receptor 3 (FGFR3) gene, resulting in severe disproportionate short stature and medical complications related to impaired endochondral bone growth. Vosoritide (C-type natriuretic peptide analogue) i...

Objective: IGF-1 receptor mutations (IGF1RM) are a rare abnormality; however, affected patients exhibit severe postnatal growth retardations without catch-up growth. Although several cases of IGF1RM have been described, a comprehensive retrospective analysis of the potential benefit of rhGH treatment is still missing. The aim of this study was therefore to investigate baseline auxology, response to rhGH therapy and potential metabolic effects in patients with IGF1RM in compari...

Background: Achondroplasia (ACH), caused by a pathogenic variant in the fibroblast growth factor receptor 3 gene (FGFR3), is characterized by severe growth failure and may be associated with multisystemic complications. The clinical phenotype is variable and relates to deformity of rhizomelic shortened legs, and myelon compression at cranial base and spine. Recent guidelines are published for diagnostic workflow, neurosurgical, orthopaedic and otorhinolaryngol...

Background: Achondroplasia (Ach) is a rare growth disorder caused by a point mutation in the fibroblast growth factor receptor 3 gene that results in dysproportionate extreme short stature and can lead to a wide range of multisystemic complications throughout the individual's life with reduced quality of life. In the past, orthopaedic and neurosurgical therapies have been developed to partially improve mobility, reduce pain and prevent neurological disabi...

Introduction: Vosoritide is licensed by EMA for the treatment of children with achondroplasia above 4 months of age in 2023 (initial approval for children above 2 years in 2021). The CNP analogue modulates enchondral bone growth and improves growth velocity. Response to therapy varies between individuals. Nineteen European centers enter auxological and diagnosis-specific data into the achondroplasia module of the CrescNet® registry to monitor treatment. We...