title: Genetics of isolated growth hormone deficiency.
abstract: When a child is not following the normal, predicted growth curve, an evaluation for underlying illnesses and central nervous system abnormalities is required, and appropriate consideration should be given to genetic defects causing growth hormone (GH) deficiency (GHD). Because Insulin-like Growth Factor-I (IGF-I) plays a pivotal role, GHD could also be considered as a form of IGF-I deficiency (IGFD). Although IGFD can develop at any level of the GH-releasing hormone (GHRH)-GH-IGF axis, a differentiation should be made between GHD (absent to low GH in circulation) and IGFD (normal to high GH in circulation). The main focus of this review is on the GH gene, the various gene alterations and their possible impact on the pituitary gland. However, although transcription factors regulating the pituitary gland development may cause multiple pituitary hormone deficiency, they may present initially as GHD.
authors.affiliation: Inselspital, Division of Paediatric Endocrinology, Diabetology&Metabolism, University Children's Hospital, Bern, Switzerland. primus.mullis@insel.ch
authors.forename: Primus E
authors.initials: PE
authors.lastname: Mullis
mesh_terms: D002648:Child; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006130:Growth Disorders / Q000235:genetics*; D013007:Growth Hormone-Releasing Hormone / Q000235:genetics; D019382:Human Growth Hormone / Q000172:deficiency* / Q000235:genetics*; D006801:Humans; D007334:Insulin-Like Growth Factor I / Q000235:genetics; D009154:Mutation; D018013:Receptors, Neuropeptide / Q000235:genetics; D018017:Receptors, Pituitary Hormone-Regulating Hormone / Q000235:genetics
chemical_list: D018013:Receptors, Neuropeptide; D018017:Receptors, Pituitary Hormone-Regulating Hormone; D019382:Human Growth Hormone; D007334:Insulin-Like Growth Factor I; D013007:Growth Hormone-Releasing Hormone; C048250:somatotropin releasing hormone receptor