The molecular basis for developmental disorders of the pituitary gland in man

Clin Genet. 2000 May;57(5):337-46. doi: 10.1034/j.1399-0004.2000.570503.x.


The development of the anterior pituitary gland is dependent upon a cascade of signalling molecules and developmental genes that function as transcription factors. Many of these genes are homeobox genes which contain a DNA-binding region or homeobox. Animal models have given a valuable insight into human pituitary disease. For example, Pit-1 and Prop1 mutants are known to have deficiencies of growth hormone, prolactin and thyroid-stimulating hormone. Human phenotypes arising as a result of mutations in these genes are similar to the mouse mutants. Mutations in the novel homeobox gene Hesx1/HESX1 are associated with the highly variable phenotype of septo-optic dysplasia in mouse and man. The unravelling of this complex developmental cascade is just commencing.

Publication types

  • Review

MeSH terms

  • Animals
  • Child
  • Child, Preschool
  • Developmental Disabilities / genetics*
  • Gene Expression Regulation, Developmental / physiology
  • Genes, Homeobox / genetics
  • Humans
  • Pituitary Gland, Anterior / growth & development*