title: Genetics of growth hormone deficiency.
abstract: When a child is not following the normal, predicted growth curve, an evaluation for underlying illness and central nervous system abnormalities is required and appropriate consideration should be given to genetic defects causing growth hormone (GH) deficiency. This article focuses on the GH gene, the various gene alterations, and their possible impact on the pituitary gland. Transcription factors regulating pituitary gland development may cause multiple pituitary hormone deficiency but may present initially as GH deficiency. The role of two most important transcription factors, POU1F1 (Pit-1) and PROP 1, is discussed.
authors.affiliation: Paediatric Endocrinology and Diabetology and Metabolism, University Children's Hospital, University of Berne, Inselspital, CH-3010 Bern, Switzerland. primus.mullis@insel.ch
authors.forename: Primus E
authors.initials: PE
authors.lastname: Mullis
mesh_terms: D000818:Animals; D004393:Dwarfism, Pituitary / Q000145:classification / Q000235:genetics* / Q000473:pathology; D013006:Growth Hormone / Q000235:genetics; D006801:Humans; D051379:Mice; D008822:Mice, Transgenic; D009154:Mutation; D010902:Pituitary Gland / Q000254:growth & development; D022821:RNA Splice Sites / Q000235:genetics; D022142:Secretory Vesicles / Q000473:pathology; D014157:Transcription Factors / Q000235:genetics / Q000502:physiology
chemical_list: D022821:RNA Splice Sites; D014157:Transcription Factors; D013006:Growth Hormone