Short stature and metabolic abnormalities in two sisters with a 7.6-kb GH1 gene deletion

  • Ahmad T
  • Geffner M
  • Parks J
 et al. 
  • 10


    Mendeley users who have this article in their library.
  • 3


    Citations of this article.


Growth hormone 1 (GH1) gene deletions occur in approximately 10-15% of patients with severe isolated, GH deficiency (GHD). The standard treatment for GHD is GH replacement. Individuals with GH gene defects, however, may form GH antibodies that interfere with the efficacy of exogenous recombinant GH (rhGH) therapy. Objective: We describe the growth measures and metabolic studies of two Hispanic sisters with the same 7.6-kb GH1 gene deletion who presented with short stature and increased body fat, and who developed neutralizing GH antibodies secondary to rhGH exposure. Design: The younger sister has now been treated with recombinant human insulin-like growth factor-I (rhIGF-I) for 4. years, and is continuing treatment. The older sister was not given rhIGF-I based on her normal height velocity and age. After the first 4. years of rhIGF-I treatment of the younger sister, we summarized the longitudinal anthropometric measures and serial laboratory studies, including GH surrogates, fasting lipid studies, oral glucose tolerance tests, and HbA1c, of both sisters. Body composition was quantified using DEXA analysis. Results: The older sister achieved an adult stature at the low end of her mid-parental target height range, having been treated only with rhGH for ~2.5years (between 11months and 3.5years of age). Treatment of the younger sister with rhIGF-I for 4years has led to persistent improvement in height velocity, but was associated with adverse short-term effects on all lipids. Her BMI increased modestly (+4.1kg/m2) during rhIGF-I treatment, though her change in percent body fat was negligible by DEXA (δ -0.7%). Conclusions: In individuals with a GH gene deletion, rhIGF-I promotes increased height velocity, but may be associated with adverse effects on lipids and BMI. It is clear that the long-term effects of rhIGF-I on lipid metabolism and body composition require further monitoring and assessment with continued treatment. © 2010 Growth Hormone Research Society.

Author-supplied keywords

  • Growth hormone deficiency
  • Growth hormone gene deletion
  • Insulin-like growth factor-I
  • Short stature

Get free article suggestions today

Mendeley saves you time finding and organizing research

Sign up here
Already have an account ?Sign in

Find this document


  • Tariq Ahmad

  • Mitchell Geffner

  • John Parks

  • Milton Brown

  • Lynda Fisher

  • Gertrude Costin

Cite this document

Choose a citation style from the tabs below

Save time finding and organizing research with Mendeley

Sign up for free