title: Phenotype-genotype correlations in congenital isolated growth hormone deficiency (IGHD).
abstract: Isolated growth hormone deficiency (IGHD) may be congenital, often due to genetic mutations, or acquired as a result of other factors such as cranial irradiation. The commonest genes implicated in its genetic etiology are those encoding growth hormone (GH1) and the receptor for GH-releasing hormone (GHRHR). Rarely, IGHD may be caused by mutations in transcription factors (HESX1, SOX3, OTX2) or be the first presentation before the development of other pituitary hormone deficiencies. IGHD has been classified in four genetic forms (type IA, IB, II and III). Despite the increasing number of genes implicated in the etiology of IGHD, mutations in known genes account only for a small percentage of cases; therefore, other as yet unidentified factors may be implicated in its etiology. Although there is no strict genotype/phenotype correlation in patients with IGHD, there are some emerging patterns that may guide us towards a genetic diagnosis of the condition. There is increasing understanding that the phenotype of patients with IGHD is highly variable and sometimes even evolving, dictating the need for long term follow-up in these cases.
authors.affiliation: Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, UCL Institute of Child Health, Guilford Street, London, WC1N 1EH, UK.
authors.forename: Kyriaki S
authors.initials: KS
authors.lastname: Alatzoglou
authors.forename: Mehul T
authors.initials: MT
authors.lastname: Dattani
mesh_terms: D004393:Dwarfism, Pituitary / Q000235:genetics*; D056726:Genetic Association Studies; D019382:Human Growth Hormone / Q000172:deficiency / Q000235:genetics*; D006801:Humans; 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; C039542:somatocrinin receptor; D019382:Human Growth Hormone