Growth hormone insensitivity: Pathophysiology, diagnosis, clinical variation and future perspectives

Martin O. Savage, Christine P. Burren, Joanne C. Blair, Katie A. Woods, Louise Metherell, Adrian J.L. Clark, Cecilia Camacho-Hübner

Research output: Contribution to journalArticlepeer-review

45 Scopus citations


The study of genetic growth hormone (GH) insensitivity is an evolving field. GH insensitivity syndrome (GHIS), otherwise known as Laron syndrome, is a heterogeneous disorder. Biochemical features consist of severe insulin-like growth factor I (IGF-I) and IGF-binding protein 3 (IGFBP-3) deficiency and elevated GH secretion. In a heterogeneous 'European' cohort of GHIS patients, features varied from classical to moderate abnormalities of phenotype and endocrine disturbance. A study of facial features within this series showed that a mild subgroup existed with normal facies, mild short stature and moderate biochemical abnormalities. Overlap with idiopathic short stature (ISS) exists, with heterozygous mutations of the GH receptor demonstrated to cause impaired growth. This 'partial' GHIS has not yet been defined endocrinologically. GH sensitivity, measured by IGF-I and IGFBP-3 responses in the IGF-I generation test, may reveal abnormalities in ISS, although it is likely that the dose of recombinant human GH and frequency of sampling in the test need to be modified.

Original languageEnglish (US)
Pages (from-to)32-35
Number of pages4
JournalHormone Research
Issue numberSUPPL. 2
StatePublished - 2001
Externally publishedYes


  • Growth hormone
  • Growth hormone binding protein
  • Growth hormone insensitivity syndrome
  • Growth hormone receptor
  • Insulin-like growth factor I
  • Insulin-like growth hormone binding protein 3

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology


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