Growth hormone deficiency: an update

Minerva Endocrinol. 2013 Mar;38(1):1-16.


Growth hormone (GH) deficiency (GHD) in humans manifests differently according to the individual developmental stage (early after birth, during childhood, at puberty or in adulthood), the cause or mechanism (genetic, acquired or idiopathic), deficiency intensity and whether it is the only pituitary-affected hormone or is combined with that of other pituitary hormones or forms part of a complex syndrome. Growing knowledge of the genetic basis of GH deficiency continues to provide us with useful information to further characterise mutation types and mechanisms for previously described and new candidate genes. Despite these advances, a high proportion of GH deficiencies with no recognisable acquired basis continue to be labelled as idiopathic, although less frequently when they are congenital and/or familial. The clinical and biochemical diagnoses continue to be a conundrum despite efforts to harmonise biochemical assays for GH and IGF-1 analysis, probably because the diagnosis based on the so-called GH secretion stimulation tests will prove to be of limited usefulness for predicting therapy indications.

Publication types

  • Review

MeSH terms

  • Adolescent
  • Adolescent Development
  • Biomarkers / blood
  • Body Height / drug effects
  • Child
  • Child Development
  • Dwarfism, Pituitary / genetics
  • Human Growth Hormone / blood
  • Human Growth Hormone / deficiency*
  • Human Growth Hormone / genetics*
  • Humans
  • Insulin-Like Growth Factor I / metabolism
  • Mutation*
  • Phenotype
  • Puberty / drug effects


  • Biomarkers
  • Human Growth Hormone
  • Insulin-Like Growth Factor I