Safety Outcomes and Near-Adult Height Gain of Growth Hormone-Treated Children with SHOX Deficiency: Data from an Observational Study and a Clinical Trial

Horm Res Paediatr. 2017;87(1):42-50. doi: 10.1159/000452973. Epub 2016 Dec 22.


Background/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.

Publication types

  • Clinical Trial
  • Multicenter Study
  • Observational Study

MeSH terms

  • Body Height* / drug effects
  • Body Height* / genetics
  • Child
  • Child Development / drug effects*
  • Female
  • Follow-Up Studies
  • Growth Disorders* / drug therapy
  • Growth Disorders* / genetics
  • Growth Disorders* / physiopathology
  • Homeodomain Proteins / genetics*
  • Human Growth Hormone / administration & dosage*
  • Humans
  • Male
  • Osteochondrodysplasias* / drug therapy
  • Osteochondrodysplasias* / genetics
  • Osteochondrodysplasias* / physiopathology
  • Short Stature Homeobox Protein


  • Homeodomain Proteins
  • SHOX protein, human
  • Short Stature Homeobox Protein
  • Human Growth Hormone

Supplementary concepts

  • Leri-Weil syndrome