title: Developmental syndromes: growth hormone deficiency and treatment.
abstract: Developmental syndromes are characterized by numerous phenotypical signs and malformations. In most of them such as Turner, Noonan, Prader-Willi, Silver-Russel, Williams, Kabuki, Leri-Weill syndrome and skeletal dysplasias, short stature is a common feature. Growth defect is very often related to a defect in cellular growth, but some unknown abnormality in GH action is possible. Recently, the greater availability of recombinant GH has expanded the interest towards GH secretion and therapy also in developmental syndromes. We recognize syndromes associated with GH deficiency (GHD), showing a developmental midline defect such as Pallister-Hall syndrome, septo-optic dysplasia, but many of these conditions do not have a convincing link with GHD. Moreover, some conditions, in particular the well-studied Turner syndrome, that do not have a real GHD, have proven to benefit from GH therapy at supra-physiological doses obtaining a higher final height than the expected one according to the natural history. This has expanded the indications for GH therapy. The aim of our paper is to review the literature on GH secretion, on the effects and costs-benefits of GH therapy in many dysmorphic syndromes, presenting some results of GH secretion and therapy obtained in our experience.
authors.affiliation: Department of Pediatrics, S. Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy. laura.mazzanti@unibo.it
authors.forename: Laura
authors.initials: L
authors.lastname: Mazzanti
authors.forename: Federica
authors.initials: F
authors.lastname: Tamburrino
authors.forename: Rosalba
authors.initials: R
authors.lastname: Bergamaschi
authors.forename: Emanuela
authors.initials: E
authors.lastname: Scarano
authors.forename: Francesca
authors.initials: F
authors.lastname: Montanari
authors.forename: Michele
authors.initials: M
authors.lastname: Torella
authors.forename: Elisa
authors.initials: E
authors.lastname: Ballarini
authors.forename: Alessandro
authors.initials: A
authors.lastname: Cicognani
mesh_terms: D006130:Growth Disorders / Q000188:drug therapy* / Q000503:physiopathology*; D019382:Human Growth Hormone / Q000172:deficiency* / Q000627:therapeutic use*; D006801:Humans; D008607:Intellectual Disability / Q000188:drug therapy / Q000503:physiopathology; D013577:Syndrome
chemical_list: D019382:Human Growth Hormone