The molecular genetics of growth hormone deficiency

Hum Genet. 1998 Sep;103(3):255-72. doi: 10.1007/s004390050815.


Although most cases of short stature associated with growth hormone (GH) deficiency are sporadic and idiopathic, some 5-30% have an affected first degree relative consistent with a genetic aetiology for the condition. Several different types of mutational lesion in the pituitary-expressed growth hormone (GH1) gene have been described in affected individuals. This review focuses primarily on the GH1 mutational spectrum and its unusual features, discusses potential mechanisms of mutagenesis and pathogenesis, and examines the correlation between mutant genotype and clinical phenotype. The characterization of pathological lesions in several other pituitary-expressed genes that are epistatic to GH1 (POU1F1, PROP1 and GHRHR) has identified additional causes of GH deficiency, the molecular genetics of which are also explored.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Base Sequence
  • Disease Models, Animal
  • Genetic Diseases, Inborn / genetics
  • Genotype
  • Human Growth Hormone / deficiency*
  • Human Growth Hormone / genetics
  • Humans
  • Molecular Sequence Data
  • Mutation / genetics
  • Phenotype
  • Receptors, Neuropeptide / genetics
  • Receptors, Pituitary Hormone-Regulating Hormone / genetics


  • Receptors, Neuropeptide
  • Receptors, Pituitary Hormone-Regulating Hormone
  • Human Growth Hormone
  • somatotropin releasing hormone receptor