Benabbad, ImaneRosilio, MyriamChild, Christopher J.Carel, Jean-ClaudeRoss, Judith L.Deal, Cheri L.Drop, Stenvert L. S.Zimmermann, Alan G.Jia, NanQuigley, Charmian A.Blum, Werner F.2017-11-222017-11-222017Benabbad, I., Rosilio, M., Child, C. J., Carel, J.-C., Ross, J. L., Deal, C. L., … Blum, W. F. (2017). Safety Outcomes and Near-Adult Height Gain of Growth Hormone-Treated Children with SHOX Deficiency: Data from an Observational Study and a Clinical Trial. Hormone Research in Pædiatrics, 87(1), 42–50. http://doi.org/10.1159/0004529731663-2826https://hdl.handle.net/1805/14668BACKGROUND/AIMS: To assess auxological and safety data for growth hormone (GH)-treated children with SHOX deficiency. METHODS: Data were examined for GH-treated SHOX-deficient children (n = 521) from the observational Genetics and Neuroendocrinology of Short Stature International Study (GeNeSIS). For patients with near-adult height information, GeNeSIS results (n = 90) were compared with a clinical trial (n = 28) of SHOX-deficient patients. Near-adult height was expressed as standard deviation score (SDS) for chronological age, potentially increasing the observed effect of treatment. RESULTS: Most SHOX-deficient patients in GeNeSIS had diagnoses of Leri-Weill syndrome (n = 292) or non-syndromic short stature (n = 228). For GeNeSIS patients with near-adult height data, mean age at GH treatment start was 11.0 years, treatment duration 4.4 years, and height SDS gain 0.83 (95% confidence interval 0.49-1.17). Respective ages, GH treatment durations and height SDS gains for GeNeSIS patients prepubertal at baseline (n = 42) were 9.2 years, 6.0 years and 1.19 (0.76-1.62), and for the clinical trial cohort they were 9.2 years, 6.0 years and 1.25 (0.92-1.58). No new GH-related safety concerns were identified. CONCLUSION: Patients with SHOX deficiency who had started GH treatment before puberty in routine clinical practice had a similar height gain to that of patients in the clinical trial on which approval for the indication was based, with no new safety concerns.en-USPublisher PolicyBody Heightdrug effectsgeneticsChild DevelopmentGrowth Disordersdrug therapyphysiopathologyHomeodomain ProteinsHuman Growth Hormoneadministration & dosageOsteochondrodysplasiasArticle