title: MRI findings and genotype analysis in patients with childhood onset growth hormone deficiency--correlation with severity of hypopituitarism.
abstract: OBJECTIVE
  To evaluate the relationship between pituitary size, PIT1 and PROP1 genotype, and the severity of childhood onset growth hormone deficiency (coGHD).
  
  
  METHODS
  Forty-four patients with coGHD (34 M; 9.7 +/- 4.1 years): severe isolated (SI) GHD (n = 14); partial isolated (PI) GHD (n=13); multiple pituitary hormone deficiencies (MPHD) (n=17).
  
  
  RESULTS
  Pituitary abnormalities were found in 7/14 patients with SIGHD (50%), 16/17 patients with MPHD (94.1%), and no patient with PIGHD. Mean pituitary height (PHT SDS) was significantly lower in MPHD than in SIGHD and PIGHD. Pituitary height SDS and pituitary volume (PV) SDS correlated with IGF-I SDS and stimulated GH peaks in the SIGHD and MPHD groups. No PIT1 mutation was identified. The PROP1 AG deletion (301-302) was present in five related patients with MPHD and more severe phenotype than the other patients with MPHD.
  
  
  CONCLUSIONS
  Pituitary abnormalities corresponded to the severity of coGHD. Genetic alterations were identified in five related patients with MPHD.
authors.affiliation: 1st Clinic of Internal Medicine, Department of Endocrinology and Diabetology, Johannes Gutenberg University of Mainz, Germany. zimmeran@uni-mainz.de
authors.forename: Anca
authors.initials: A
authors.lastname: Zimmermann
authors.forename: Jens-Peter
authors.initials: JP
authors.lastname: Schenk
authors.forename: Paula
authors.initials: P
authors.lastname: Grigorescu Sido
authors.forename: Roland
authors.initials: R
authors.lastname: Pfaffle
authors.forename: Cecilia
authors.initials: C
authors.lastname: Lazea
authors.forename: Tim
authors.initials: T
authors.lastname: Zimmermann
authors.forename: Udo
authors.initials: U
authors.lastname: Heinrich
authors.forename: Matthias M
authors.initials: MM
authors.lastname: Weber
authors.forename: Markus
authors.initials: M
authors.lastname: Bettendorf
mesh_terms: D000293:Adolescent; D000365:Age Determination by Skeleton; D017668:Age of Onset; D001827:Body Height / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D018450:Disease Progression; D004393:Dwarfism, Pituitary / Q000150:complications / Q000000981:diagnostic imaging* / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D005838:Genotype; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D007018:Hypopituitarism / Q000000981:diagnostic imaging / Q000209:etiology / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D010902:Pituitary Gland / Q000033:anatomy & histology / Q000000981:diagnostic imaging; D012189:Retrospective Studies; D050817:Transcription Factor Pit-1 / Q000235:genetics
chemical_list: D018398:Homeodomain Proteins; C494187:POU1F1 protein, human; C102134:Prophet of Pit-1 protein; D050817:Transcription Factor Pit-1