hrp0086p2-p80 | Adrenal P2 | ESPE2016

Addisonian Crisis Due to Autoimmune Adrenalitis in a 14 Year Old Boy with a History of Stem cell Transplantation (HSCT)

Penger Theresa , Albrecht Andrea , Marx Michaela , Voelkl Thomas , Stachel Daniel , Metzler Markus , Doerr Helmuth G.

Background: Various endocrine complications are common after HSCT but primary adrenal insufficiency (AddisonÂ’s disease, AD) is absolutely rare. To the best of our knowledge, there is only one case of AD reported in a 9-year-old girl after HSCT and busulfan and cyclophosaphamide-based conditioning for myelodysplastic syndrome.Objective: We report on a 14-year-old boy from Albania who developed an Addisonian crisis 12.7 years after HSCT.<p class="...

hrp0086p2-p644 | Growth P2 | ESPE2016

Adverse Effects after Priming with Testosterone in Short Statured Boys before Growth Hormone Stimulation Test

Albrecht Andrea , Penger Theresa , Marx Michaela , Voelkl Thomas , Hirsch Karin , Doerr Helmuth G

Background: Current guidelines recommend the priming with low-dose testosterone in prepubertal boys prior to growth hormone stimulation tests. To our knowledge, only few adverse events after low-dose testosterone have been described so far.Objective and hypotheses: To assess possible side effects of testosterone priming.Patients: We studied 188 prepubertal boys aged between 10 and 15 years (mean ± S.D.: 11.4&#17...

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...