hrp0082p3-d1-813 | Growth | ESPE2014

BMI, IGF1–SDS, and rhGH Treatment

Vasiliakis Ioannis Anargyros , Gausche Ruth , Beger Christoph , Kratzsch Jurgen , Kiesz Wieland , Pfaffle Roland

Background: CrescNet is a large data base used to document childrenÂ’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 ...

hrp0084p2-446 | Growth | ESPE2015

BMI Negatively Correlates with GH Response to GH Provocation Testing

Vasilakis Ioannis-Anargyros , Gausche Ruth , Beger Christoph , Kratzsch Juergen , Kiess Wieland , Koerner Antje , Pfaeffle Roland

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...

hrp0089p1-p183 | Growth & Syndromes P1 | ESPE2018

Carriers of IGF1-receptor Mutations As A Subgroup of SGA Patients: A Comprehensive Retrospective Comparison of Response to rhGH Treatment and Health Profile

Gopel Eric , Klammt Jurgen , Rockstroh Denise , Pfaffle Heike , Schlicke Marina , Bechtold-Dalla Pozza Susanne , Gannage-Yared Marie-Helene , Gucev Zoran , Mohn Angelika , Harmel Eva-Maria , Volkmann Julia , Bogatsch Holger , Beger Christoph , Gausche Ruth , Weihrauch-Bluher Susann , Pfaffle Roland

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...

hrp0095p1-223 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Real-world data in children with achondroplasia after licensing of Vosoritide

Palm Katja , Bechthold-Dalla Pozza Susanne , Gausche Ruth , Högler Wolfgang , Hoyer- Kuhn Heike , Hübner Angela , Keller Alexandra , Mirante Alice , Mohnike Klaus , Muschol Nicole , Nader Sean , Pfäffle Roland , Quitter Friederike , Rohrer Tilmann , Rutsch Frank , Schnabel Dirk , Semler Oliver , Silva Isabel , B. Sousa Sérgio , M.K. Voelkl Thomas , Wechsung Katja , Weigel Johannes , Woelffle Joachim , Lausch Ekkehart

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...

hrp0097p1-414 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Multidisciplinary approach in achondroplasia – real world experience after drug approval of vosoritide

Kunkel Philip , Al Halak Maesa , Bechthold-Dalla Pozza Susanne , Grasemann Corinna , Keller Alexandra , Muschol Nadine , Nader Sean , Palm Katja , Poetzsch Simone , Rohrer Tilman , Rutsch Frank , Schnabel Dirk , Voelkl Thomas , Vogt Bjoern , Wechsung Katja , Weigel Johannes , Woelfle Joachim , Pfaeffle Roland , Gausche Ruth , Beger Christoph , Mohnike Klaus

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...