ECEESPE2025 Poster Presentations Bone and Mineral Metabolism (112 abstracts)
Onset of puberty in achondroplasia
Andrea Laufer 1 , Maesa Al-Hallak 2 , Daniela Avdjieva 3 , Susanne Bechtold-Dalla Pozza 4 , Christoph Beger 5 , Desiree Dunstheimer 6 , Corinna Grasemann 7 , Julie Harvengt 8 , Wolfgang Högler 9 , Angela Hübner 10 , Nicole Muschol 11 , Sean Nader 12 , Katja Palm 13 , Roland Pfäffle 5 , Beata Pyrzak 14 , Tilman Rohrer 15 , Frank Rutsch 16 , Jörg Semler 17 , Ondřej Souček 18 , Ioana Streata 19 , Bjoern Vogt 20 , Thomas Völkl 21 , Katja Wechsung 22 , Joachim Woelfle 23 , Jiří Zeman 24 & Klaus Mohnike 13
1University Hospital Muenster, Pediatric Orthopedics, Deformity Reconstruction and Foot Surgery, Muenster, Germany; 2kbo-Kinderzentrum München, Munich, Germany; 3SBAL Children’s Hospital, Sofia, Bulgaria; 4LMU-University of Munich, Dr. von Hauner Children’s Hospital, Department of Pediatric Endocrinology, Munich, Germany; 5University Hospital Leipzig, Department of Pediatrics, Leipzig, Germany; 6University of Augsburg, Faculty of Medicine, Paediatrics and Adolescent Medicine, Augsburg, Germany; 7Katholisches Klinikum Bochum, University Hospital of Pediatrics and Adolescent Medicine, Department of Pediatrics, Division of Rare Diseases, Bochum, Germany; 8CHU Génétique Liege, Liege, Belgium; 9Johannes Kepler University Linz, Department of Paediatrics and Adolescent Medicine, Linz, Austria; 10Technische Universität Dresden, Faculty of Medicine and University Hospital Carl Gustav Carus, Department of Paediatrics, Dresden, Germany; 11University Hospital Hamburg-Eppendorf, Pediatrics, Hamburg, Germany; 12Schön-Clinic Vogtareuth, Pediatric Orthopedics, Vogtareuth, Germany; 13University Hospital Magdeburg, Pediatrics, Magdeburg, Germany; 14Medical University of Warsaw, Department of Pediatrics and Endocrinology, Warsaw, Poland; 15University Hospital Saarland, Pediatrics, Homburg, Germany; 16University Hospital Muenster, Children’s Hospital, Department of General Pediatrics and Center for Rare Diseases, Muenster, Germany; 17University Hospital Cologne, Faculty of Medicine, Center for Rare Diseases, Cologne, Germany; 18Second Faculty of Medicine, Charles University, Prague, Czech Republic; 19University of Medicine and Pharmacy of Craiova, Regional Centre of Medical Genetics Dolj, Emergency Clinical County Hospital Craiova, Laboratory of Human Genomics, Craiova, Romania; 1University Hospital Muenster, Pediatric Orthopedics, Deformity Reconstruction and Foot Surgery, Muenster, Germany; 21Josefinum Augsburg, Department of Pediatrics and Adolescent Medicine, Augsburg, Germany; 22Charité Universitätsmedizin Berlin, Pediatric Endocrinology, Berlin, Germany; 23Friedrich-Alexander-Universität Erlangen-Nürnberg, University Hospital Erlangen, Department of Pediatrics and Adolescent Medicine, Erlangen, Germany; 24VFN Uni Prague, Pediatrics, Prague, Czech Republic
JOINT2715
Prediction of adult height is important in treatment decisions of children with short stature. However, an important contributing factor is the variable range of puberty start and duration. To calculate the residual growth during adolescence, age at onset of puberty is a valuable indicator. Holmgren et al. described a remaining growth potential after onset of puberty of 28. 8–29. 2 cm in healthy boys (n = 1174) and 26. 2 to 26. 6 cm in healthy girls (n = 1165) (Gothenborg study, 2022). In comparison, del Pino et al. reported a mean residual growth of 17. 8 cm and 19. 7 cm, respectively in 17 girls and 10 boys, respectively with untreated achondroplasia (ACH) (JPEM, 2020). In achondroplasia (ACH), correction of lower limb axis deviation – in particular varus malalignment – is performed by a variety of methods. To avoid major surgical procedures, growth modulation using temporary hemiepiphysiodesis can be employed in children with sufficient residual leg growth. Precise timing of this procedure before onset of the pubertal growth spurt is crucial to achieve sufficient correction of the deformity. Vosoritide is a new growth promoting drug for ACH, approved in 2021, enabling higher growth rate with to date no waning of treatment response. To analyze the effect of late start of vosoritide treatment on residual growth potential we analyzed 297 children with ACH (139 girls) with proven FGFR3 mutation. Onset of puberty was defined as follows: testicle volume>=4ml, pubic stage=P2, breast stage=B2, bone age in female 11–12 or male 13–14 years (y), which was documented in 60 children (26 girls). Vosoritide treatment had been started at puberty onset in 38 out of 225 treated patients who were suitable for analysis. Puberty started in untreated girls at age 11. 0 y with mean height-SDS of -5. 1 SDS (i. e. 110. 8 cm; SD 7. 2 cm) and in untreated boys at age 12. 8 y with a mean height-SDS of -4. 6 SDS (i. e. 118. 9 cm; SD 7. 5 cm). So far, only 1st year treatment data from 16 pubertal children (5 girls) with ACH were documented. In vosoritide treated children compared to untreated ACH children a constant higher growth rate after onset of puberty of 5. 8 cm/y (SD 0. 7) vs. 4. 2 cm/y (SD 1. 1) in females and 5. 5 cm/y (SD 1. 1) vs. 4. 7 cm/y (SD 1. 1) in males was identified. In conclusion, after onset of puberty vosoritide induced an accelerated growth rate, which may be of potential benefit for effective growth modulation to correct angular deformities.
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