Pituitary hormone deficiencies due to transcription factor gene alterations

Growth Horm IGF Res. 2004 Dec;14(6):442-8. doi: 10.1016/j.ghir.2004.07.001.

Abstract

Mechanisms that control pituitary development are gradually better understood. They involve molecular signals from surrounding structures and the expression of a cascade of homeodomain transcription factors. Mutations of these transcription factors cause defects of embryologic development of the anterior pituitary responsible for isolated or multiple pituitary hormone deficiencies (respectively, IPHD and MPHD) in both rodents and humans. In this review we emphasize the description of human phenotypes associated with genetic alterations found in IPHD (e.g. isolated corticotroph deficiency and Tpit mutations) and MPHD (mutations of POU1F1, PROP1, Hesx1, Lhx3, Lhx4, Ptx2).

Publication types

  • Review

MeSH terms

  • Cell Differentiation / genetics
  • Cell Lineage
  • DNA-Binding Proteins / genetics
  • Deficiency Diseases / genetics*
  • Deficiency Diseases / pathology
  • Homeobox Protein PITX2
  • Homeodomain Proteins / genetics
  • Humans
  • Hypopituitarism / genetics
  • LIM-Homeodomain Proteins
  • Mutation
  • Pituitary Gland, Anterior / growth & development
  • Pituitary Gland, Anterior / pathology
  • Pituitary Hormones / deficiency*
  • Transcription Factor Pit-1
  • Transcription Factors / genetics*

Substances

  • DNA-Binding Proteins
  • HESX1 protein, human
  • Homeodomain Proteins
  • LHX4 protein, human
  • LIM-Homeodomain Proteins
  • POU1F1 protein, human
  • Pituitary Hormones
  • Prophet of Pit-1 protein
  • Transcription Factor Pit-1
  • Transcription Factors