Growth hormone therapy in patients with short stature homeobox-gene (SHOX) deficiency

J Endocrinol Invest. 2010 Jun;33(6 Suppl):34-8.


Short stature homeobox (SHOX) gene is located in the pseudoautosomal region 1 on the distal end of the X and Y chromosomes at Xp22.3 and Yp11.3. The haploinsufficiency of SHOX is correlated with short stature, Leri-Weill dyschondrosteosis, and Langer mesomelic dysplasia. Subjects with Turner syndrome (TS) present a SHOX haploinsufficiency that appears to be substantially responsible for their short stature. Several studies have shown a positive response to GH therapy in patients with TS. Short children with SHOX haploinsufficiency do not spontaneously catch up to attain a normal final height. Considering the positive effects obtained in patients with TS, GH therapy has been proposed for short stature due to isolated SHOX haploinsufficiency. The aim of this paper is to summarize the current data on GH administration in patients with SHOX haploinsufficiency. The conclusion is that GH therapy, at the same dosage used in patients with TS, induces a sustained catch-up growth and a height velocity and adult height gain in short patients with SHOX haploinsufficiency.

MeSH terms

  • Age Factors
  • Body Height / drug effects
  • Child
  • Child, Preschool
  • Deficiency Diseases / drug therapy*
  • Dose-Response Relationship, Drug
  • Female
  • Growth Hormone / pharmacology
  • Growth Hormone / therapeutic use*
  • Haploinsufficiency / drug effects
  • Haploinsufficiency / genetics
  • Homeodomain Proteins / genetics*
  • Homeodomain Proteins / metabolism*
  • Humans
  • Male
  • Mutation / genetics*
  • Nutritional Status
  • Short Stature Homeobox Protein


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