Effect of growth hormone therapy on severe short stature and skeletal deformities in a patient with combined Turner syndrome and Langer mesomelic dysplasia

J Clin Endocrinol Metab. 2009 Dec;94(12):5028-33. doi: 10.1210/jc.2009-0679. Epub 2009 Oct 22.


Background: Homozygous mutation of the short stature homeobox-containing gene, SHOX, results in Langer mesomelic dysplasia (LMD). Our case presented with severe short stature and skeletal deformities with Turner syndrome (TS) and a SHOX gene abnormality due to a downstream allele deletion in her normal X chromosome. Medical literature review did not reveal similar cases that were treated with GH therapy.

Method: We present an 11-yr-old with combined TS and LMD with severe short stature and skeletal deformities. She was studied for the effect of GH therapy on stature and skeletal deformities. Karyotype testing showed 45,X/46,X,idic(X). Genetic analysis of SHOX gene testing did not detect any exonic mutations. Interestingly, both alleles of the flanking marker DXYS233, a marker downstream of the 3' end of SHOX coding sequence, were absent with resultant LMD. GH therapy in the mean dose of 0.321 mg/kg/wk was administered for 4 yr (0.287, 0.355, 0.317, and 0.327 mg/kg/week in the first, second, third, and fourth years, respectively). Clinical data were reviewed.

Result: The growth rates of 3.46, 3.87, 2.3, and 0.7 cm/yr were observed in the first, second, third, and fourth years of the GH therapy, respectively. There was no clinical deterioration of the skeletal deformities.

Conclusion: There was a failure to achieve growth improvements with GH therapy for 4 years, but there was no worsening of the skeletal deformities. We conclude that GH therapy may not be beneficial in severe short stature due to combined TS and LMD resulting from homozygous SHOX deficiency.

Publication types

  • Case Reports

MeSH terms

  • Body Height / drug effects*
  • Bone and Bones / abnormalities*
  • Child
  • Cytogenetic Analysis
  • Female
  • Genetic Markers
  • Growth / drug effects
  • Growth / physiology
  • Homeodomain Proteins / genetics
  • Human Growth Hormone / therapeutic use*
  • Humans
  • Langer-Giedion Syndrome / complications*
  • Langer-Giedion Syndrome / drug therapy*
  • Langer-Giedion Syndrome / pathology
  • Recombinant Proteins / therapeutic use
  • Short Stature Homeobox Protein
  • Turner Syndrome / complications*
  • Turner Syndrome / drug therapy*
  • Turner Syndrome / pathology


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