Pituitary hormone deficiencies due to transcription factor gene alterations.
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).
Reynaud
R
R
Department of Pediatrics, Centre Hospitalier Universitaire Timone, Marseille, France.
Saveanu
A
A
Barlier
A
A
Enjalbert
A
A
Brue
T
T
D002454:Cell Differentiation / Q000235:genetics; D019070:Cell Lineage; D004268:DNA-Binding Proteins / Q000235:genetics; D003677:Deficiency Diseases / Q000235:genetics* / Q000473:pathology; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D007018:Hypopituitarism / Q000235:genetics; D060850:LIM-Homeodomain Proteins; D009154:Mutation; D010903:Pituitary Gland, Anterior / Q000254:growth & development / Q000473:pathology; D010907:Pituitary Hormones / Q000172:deficiency*; D050817:Transcription Factor Pit-1; D014157:Transcription Factors / Q000235:genetics*; D000097577:Homeobox Protein PITX2
D004268:DNA-Binding Proteins; D018398:Homeodomain Proteins; D060850:LIM-Homeodomain Proteins; D010907:Pituitary Hormones; D050817:Transcription Factor Pit-1; D014157:Transcription Factors; D000097577:Homeobox Protein PITX2; C489736:HESX1 protein, human; C486362:LHX4 protein, human; C494187:POU1F1 protein, human; C102134:Prophet of Pit-1 protein