Relationship between phenotype and genotype in growth hormone insensitivity syndrome

K. A. Woods, Clark Ajl, S. Amselem, M. O. Savage

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


Growth hormone insensitivity syndrome (GHIS) of genetic origin is associated with many different mutations of the growth hormone receptor (GHR) gene and a recently described genetic defect of the insulin-like growth factor I (IGF-I) gene. Phenotypic and biochemical features were examined in a cohort of 82 patients with GHIS from 23 countries. The mean age of these patients was 8.3 years, their mean height SDS was -6.09 and their median IGF- binding protein-3 (IGFBP-3) SDS was -8.5. In total, 19 of the 82 patients (23%) were growth hormone-binding protein (GHBP)-positive (> 10%). The mean heights in GHBP-negative and CHBP-positive patients were -6.45 SDS and -4.89 SDS, respectively (p < 0.001). Sixteen different GHR gene mutations were identified in 27 patients with GHIS. All of these patients had homozygous mutations, except one who had a compound heterozygous mutation. There was no relationship between the type or site within the GHR gene of the mutation and the height SDS or IGFBP-3 SDS of the patients. GHIS is associated with a wide variation in the severity of clinical and biochemical phenotypes. This variation cannot clearly be accounted for by defects: in the GHR gene alone. Other genes or environmental factors must contribute to the control of growth in patients with GHIS.

Original languageEnglish (US)
Pages (from-to)158-162
Number of pages5
JournalActa Paediatrica, International Journal of Paediatrics, Supplement
Issue number428
StatePublished - Jan 1 1999


  • Growth hormone
  • Growth hormone insensitivity
  • Growth hormone receptor gene

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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