title: Genetic defects in the development and function of the anterior pituitary gland.
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.
authors.affiliation: Department of Biology, Indiana University-Purdue University Indianapolis, 46202-5132, USA.
authors.forename: Lisa J
authors.initials: LJ
authors.lastname: Cushman
authors.forename: Aaron D
authors.initials: AD
authors.lastname: Showalter
authors.forename: Simon J
authors.initials: SJ
authors.lastname: Rhodes
mesh_terms: D051792:Basic Helix-Loop-Helix Proteins; D004268:DNA-Binding Proteins / Q000502:physiology; D018398:Homeodomain Proteins / Q000235:genetics / Q000502:physiology; D006801:Humans; D007030:Hypothalamo-Hypophyseal System; D060850:LIM-Homeodomain Proteins; D009154:Mutation; D009687:Nuclear Proteins; D010903:Pituitary Gland, Anterior / Q000502:physiology*; D000072260:RNA Splicing Factors; D016601:RNA-Binding Proteins / Q000502:physiology; D018017:Receptors, Pituitary Hormone-Regulating Hormone / Q000235:genetics; D012097:Repressor Proteins; D020825:T-Box Domain Proteins; D000072056:Transcription Factor HES-1; D050817:Transcription Factor Pit-1; D014157:Transcription Factors / Q000502:physiology; D000097577:Homeobox Protein PITX2
chemical_list: D051792:Basic Helix-Loop-Helix Proteins; D004268:DNA-Binding Proteins; D018398:Homeodomain Proteins; D060850:LIM-Homeodomain Proteins; D009687:Nuclear Proteins; D000072260:RNA Splicing Factors; D016601:RNA-Binding Proteins; D018017:Receptors, Pituitary Hormone-Regulating Hormone; D012097:Repressor Proteins; D020825:T-Box Domain Proteins; D000072056:Transcription Factor HES-1; D050817:Transcription Factor Pit-1; D014157:Transcription Factors; D000097577:Homeobox Protein PITX2; C489736:HESX1 protein, human; C489734:Hes1 protein, mouse; C489733:Hesx1 protein, mouse; C486362:LHX4 protein, human; C094898:Lhx3 protein; C494187:POU1F1 protein, human; C102134:Prophet of Pit-1 protein; C107467:SF1 protein, human; C491514:Sf1 protein, mouse; C486589:TBX19 protein, human; C078493:HES1 protein, human