Genetic defects in the development and function of the anterior pituitary gland

Ann Med. 2002;34(3):179-91.

Abstract

Genetic defects affecting the hypothalamic-pituitary-target organ axes can cause a variety of diseases involving restricted or broad disruptions of human development and physiology. At the level of the anterior pituitary gland, mutations in the genes encoding key transcription factors, hypothalamic releasing and inhibiting hormone receptors, and the pituitary hormones themselves, can all result in the loss of action of one or more of the specialized hormone-secreting cell types. This article focuses on the effects of inherited and sporadic mutations on the development and function of the anterior pituitary. Mutations in the genes encoding the HESX1, PITX2, LHX3, LHX4, PROP1, PIT1, SF1, and TPIT developmental transcription factors are associated with combined pituitary hormone deficiency diseases. By contrast, deleterious alterations in the genes that encode hypothalamic releasing hormone receptors or pituitary hormones, such as the growth hormone releasing hormone receptor or growth hormone genes, usually result in phenotypes that reflect specific defects in the hormone-secreting capacities of individual anterior pituitary cell types.

Publication types

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

MeSH terms

  • Basic Helix-Loop-Helix Transcription Factors
  • DNA-Binding Proteins / physiology
  • Homeobox Protein PITX2
  • Homeodomain Proteins / genetics
  • Homeodomain Proteins / physiology
  • Humans
  • Hypothalamo-Hypophyseal System*
  • LIM-Homeodomain Proteins
  • Mutation
  • Nuclear Proteins*
  • Pituitary Gland, Anterior / physiology*
  • RNA Splicing Factors
  • RNA-Binding Proteins / physiology
  • Receptors, Pituitary Hormone-Regulating Hormone / genetics
  • Repressor Proteins
  • T-Box Domain Proteins
  • Transcription Factor HES-1
  • Transcription Factor Pit-1
  • Transcription Factors / physiology

Substances

  • Basic Helix-Loop-Helix Transcription Factors
  • DNA-Binding Proteins
  • HESX1 protein, human
  • Hes1 protein, mouse
  • Hesx1 protein, mouse
  • Homeodomain Proteins
  • LHX4 protein, human
  • LIM-Homeodomain Proteins
  • Lhx3 protein
  • Nuclear Proteins
  • POU1F1 protein, human
  • Prophet of Pit-1 protein
  • RNA Splicing Factors
  • RNA-Binding Proteins
  • Receptors, Pituitary Hormone-Regulating Hormone
  • Repressor Proteins
  • SF1 protein, human
  • Sf1 protein, mouse
  • T-Box Domain Proteins
  • TBX19 protein, human
  • Transcription Factor HES-1
  • Transcription Factor Pit-1
  • Transcription Factors
  • HES1 protein, human