title: Classical and non-classical causes of GH deficiency in the paediatric age.
abstract: Growth hormone deficiency (GHD) may result from a failure of hypothalamic GHRH production or release, from congenital disorders of pituitary development, or from central nervous system insults including tumors, surgery, trauma, radiation or infiltration from inflammatory diseases. Idiopathic, isolated GHD is the most common sporadic form of hypopituitarism. GHD may also occur in combination with other pituitary hormone deficiencies, and is often referred to as hypopituitarism, combined pituitary hormone deficiency (CPHD), multiple pituitary hormone deficiency (MPHD) or panhypopituitarism. Children without any identifiable cause of their GHD are commonly labeled as having idiopathic hypopituitarism. MRI imaging is the technique of choice in the diagnosis of children with hypopituitarism. Marked differences in MRI pituitary gland morphology suggest different etiologies of GHD and different prognoses. Pituitary stalk agenesis and ectopic posterior pituitary (EPP) are specific markers of permanent GHD, and patients with these MRI findings show a different clinical and endocrine outcome compared to those with normal pituitary anatomy or hypoplastic pituitary alone. Furthermore, the classic triad of ectopic posterior pituitary gland, pituitary stalk hypoplasia/agenesis, and anterior pituitary gland hypoplasia is generally associated with permanent GHD. T2 DRIVE images aid in the identification of pituitary stalk without the use of contrast medium administration. Future developments in imaging techniques will undoubtedly reveal additional insights. Mutations in a number of genes encoding transcription factors - such as HESX1, SOX2, SOX3, LHX3, LHX4, PROP1, POU1F1, PITX, GLI3, GLI2, OTX2, ARNT2, IGSF1, FGF8, FGFR1, PROKR2, PROK2, CHD7, WDR11, NFKB2, PAX6, TCF7L1, IFT72, GPR161 and CDON - have been associated with pituitary dysfunction and abnormal pituitary gland development; the correlation of genetic mutations to endocrine and MRI phenotypes has improved our knowledge of pituitary development and management of patients with hypopituitarism, both in terms of possible genetic counseling, and of early diagnosis of evolving anterior pituitary hormone deficiencies.
authors.affiliation: Department of Pediatrics, Istituto Giannina Gaslini, University of Genova, Genova, Italy; Department of Endocrine Unit, Istituto Giannina Gaslini, University of Genova, Genova, Italy.
authors.forename: Natascia
authors.initials: N
authors.lastname: Di Iorgi
authors.affiliation: Neuroradiology Unit, Istituto Giannina Gaslini, Genova, Italy.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Morana
authors.affiliation: Department of Pediatrics, Istituto Giannina Gaslini, University of Genova, Genova, Italy; Department of Endocrine Unit, Istituto Giannina Gaslini, University of Genova, Genova, Italy.
authors.forename: Anna Elsa Maria
authors.initials: AE
authors.lastname: Allegri
authors.affiliation: Department of Pediatrics, Istituto Giannina Gaslini, University of Genova, Genova, Italy; Department of Endocrine Unit, Istituto Giannina Gaslini, University of Genova, Genova, Italy.
authors.forename: Flavia
authors.initials: F
authors.lastname: Napoli
authors.affiliation: Department of Pediatrics, Istituto Giannina Gaslini, University of Genova, Genova, Italy; Department of Endocrine Unit, Istituto Giannina Gaslini, University of Genova, Genova, Italy.
authors.forename: Roberto
authors.initials: R
authors.lastname: Gastaldi
authors.affiliation: Department of Pediatrics, Istituto Giannina Gaslini, University of Genova, Genova, Italy; Department of Endocrine Unit, Istituto Giannina Gaslini, University of Genova, Genova, Italy.
authors.forename: Annalisa
authors.initials: A
authors.lastname: Calcagno
authors.affiliation: Department of Pediatrics, Istituto Giannina Gaslini, University of Genova, Genova, Italy; Department of Endocrine Unit, Istituto Giannina Gaslini, University of Genova, Genova, Italy.
authors.forename: Giuseppa
authors.initials: G
authors.lastname: Patti
authors.affiliation: SSD Endocrinologia Pediatrica, Ospedale Pediatrico Microcitemico "A. Cao", Cagliari, Italy.
authors.forename: Sandro
authors.initials: S
authors.lastname: Loche
authors.affiliation: Department of Pediatrics, Istituto Giannina Gaslini, University of Genova, Genova, Italy; Department of Endocrine Unit, Istituto Giannina Gaslini, University of Genova, Genova, Italy. Electronic address: mohamadmaghnie@gaslini.org.
authors.forename: Mohamad
authors.initials: M
authors.lastname: Maghnie
mesh_terms: D002648:Child; D006801:Humans; D007018:Hypopituitarism / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D008279:Magnetic Resonance Imaging; D009154:Mutation; D014157:Transcription Factors / Q000235:genetics
chemical_list: D014157:Transcription Factors
keywords: GHD; MRI; anterior pituitary; ectopic posterior pituitary; hypopituitarism; pituitary stalk