title: Associations between pituitary imaging abnormalities and clinical and biochemical phenotypes in children with congenital growth hormone deficiency: data from an international observational study.
abstract: OBJECTIVE
  Magnetic resonance imaging (MRI) is used to investigate the etiology of growth hormone deficiency (GHD). This study examined relationships between MRI findings and clinical/hormonal phenotypes in children with GHD in the observational Genetics and Neuroendocrinology of Short Stature International Study, GeNeSIS.
  
  
  METHODS
  Clinical presentation, hormonal status and first-year GH response were compared between patients with pituitary imaging abnormalities (n = 1,071), patients with mutations in genes involved in pituitary development/GH secretion (n = 120) and patients with idiopathic GHD (n = 7,039).
  
  
  RESULTS
  Patients with hypothalamic-pituitary abnormalities had more severe phenotypes than patients with idiopathic GHD. Additional hormonal deficiencies were found in 35% of patients with structural abnormalities (thyroid-stimulating hormone > adrenocorticotropic hormone > luteinizing hormone/follicle-stimulating hormone > antidiuretic hormone), most frequently in patients with septo-optic dysplasia (SOD). Patients with the triad [ectopic posterior pituitary (EPP), pituitary aplasia/hypoplasia and stalk defects] had a more severe phenotype and better response to GH treatment than patients with isolated abnormalities. The sex ratio was approximately equal for patients with SOD, but there was a significantly higher proportion of males (approximately 70%) in the EPP, pituitary hypoplasia, stalk defects, and triad categories.
  
  
  CONCLUSIONS
  This large, international database demonstrates the value of classification of GH-deficient patients by the presence and type of hypothalamic-pituitary imaging abnormalities. This information may assist family counseling and patient management.
authors.affiliation: University of Montreal, Hôpital Sainte Justine, Montreal, Que., Canada. cheri.l.deal@umontreal.ca
authors.forename: Cheri
authors.initials: C
authors.lastname: Deal
authors.forename: Caroline
authors.initials: C
authors.lastname: Hasselmann
authors.forename: Roland W
authors.initials: RW
authors.lastname: Pfäffle
authors.forename: Alan G
authors.initials: AG
authors.lastname: Zimmermann
authors.forename: Charmian A
authors.initials: CA
authors.lastname: Quigley
authors.forename: Christopher J
authors.initials: CJ
authors.lastname: Child
authors.forename: Elena P
authors.initials: EP
authors.lastname: Shavrikova
authors.forename: Gordon B
authors.initials: GB
authors.lastname: Cutler
authors.forename: Werner F
authors.initials: WF
authors.lastname: Blum
mesh_terms: D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D004393:Dwarfism, Pituitary / Q000097:blood / Q000000981:diagnostic imaging; D019382:Human Growth Hormone / Q000097:blood; D008279:Magnetic Resonance Imaging; D010641:Phenotype; D010902:Pituitary Gland / Q000000981:diagnostic imaging / Q000378:metabolism; D011446:Prospective Studies; D011859:Radiography; D025962:Septo-Optic Dysplasia / Q000097:blood / Q000000981:diagnostic imaging; D012737:Sex Factors
chemical_list: D019382:Human Growth Hormone