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Short stature in partially corrected X-linked severe combined immunodeficiency--suboptimal response to growth hormone

Suk See De Ravin1, Elaine Shum, Kol A Zarember

  • 1Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases (NIAID), Bethesda, MD 20892, USA. sderavin@niaid.nih.gov

Journal of Pediatric Endocrinology & Metabolism : JPEM
|February 5, 2009
PubMed
Abstract

Insights

Children with X-linked severe combined immunodeficiency (XSCID) and short stature show impaired growth hormone (GH) and insulin-like growth factor-I (IGF-I) axis function. This suggests the gamma c defect contributes to growth failure, potentially treatable with IGF-I therapy.

Area of Science:

  • Pediatric Endocrinology
  • Immunology
  • Genetics

Background:

  • X-linked severe combined immunodeficiency (XSCID) stems from defects in the common cytokine receptor gamma chain (gamma c).
  • Partial immune reconstitution after bone marrow transplant in XSCID patients often results in profound short stature.
  • The gamma c chain's role in growth hormone (GH) receptor signaling suggests a link to growth failure in XSCID.

Observation:

  • This study evaluated the GH/insulin-like growth factor-I (IGF-I) axis in three children with XSCID and severe short stature.
  • An IGF-I generation test was performed using recombinant GH administration.
  • Serum IGF-I levels were measured before and after GH challenge.

Findings:

  • All three XSCID patients exhibited profoundly diminished IGF-I production following recombinant GH administration.
  • The somatotropic axis was significantly impaired in these partially corrected XSCID patients.

Implications:

  • The findings indicate a severely impaired GH/IGF-I axis in XSCID patients with short stature.
  • This supports the hypothesis that the underlying gamma c defect contributes to extreme short stature in XSCID.
  • Recombinant IGF-I treatment may be a viable therapeutic option to bypass the defective GH/IGF-I axis.

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