Insulin-like growth factor I gene deletion causing intrauterine growth retardation and severe short stature

K. A. Woods, C. Camacho-Hübner, D. Barter, A. J.L. Clark, M. O. Savage

Research output: Contribution to journalArticlepeer-review

100 Scopus citations


The first human case of a homozygous molecular defect in the gene encoding insulin-like growth factor I (IGF-I) is described. The patient was a 15-year-old boy from a consanguineous pedigree who presented with severe intrauterine growth failure, sensorineural deafness and mild mental retardation. Endocrine evaluation of the growth hormone (GH)-IGF-I axis revealed elevated GH secretion, undetectable serum IGF-I and normal serum IGF-binding protein-3, acid-labile subunit, and GH-binding activity. Analysis of the IGF-I gene revealed a homozygous partial IGF-I gene deletion involving exons 4 and 5, which encodes a severely truncated mature IGF-I peptide. This patient demonstrates that complete disruption of the IGF-I gene in man is compatible with life, and indicates a major role for IGF-I in human fetal growth. In addition, his neurological abnormalities suggest that IGF-I may be involved in central nervous system development.

Original languageEnglish (US)
Pages (from-to)39-45
Number of pages7
JournalActa Paediatrica, International Journal of Paediatrics, Supplement
Issue number423
StatePublished - 1997
Externally publishedYes


  • Growth disorders
  • Growth hormone resistance
  • Insulin-like growth factor 1
  • Intrauterine growth retardation
  • Sensorineural deafness

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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