title: GH treatment to final height produces similar height gains in patients with SHOX deficiency and Turner syndrome: results of a multicenter trial.
abstract: BACKGROUND
  Growth impairment in short stature homeobox-containing gene (SHOX) deficiency and Turner syndrome share a similar etiology. Because of the established effect of GH treatment on height in patients with Turner syndrome, we hypothesized that GH therapy would also stimulate growth in patients with SHOX deficiency.
  
  
  OBJECTIVE
  Our objectives were to evaluate long-term efficacy of GH treatment in short patients with SHOX deficiency and to compare the effect on final (adult) height (FH) in patients with SHOX deficiency and Turner syndrome.
  
  
  METHODS
  A prospective, multinational, open-label, randomized 3-arm study consisting of a 2-year control period and a subsequent extension period to FH. The treatment groups were 1) SHOX-D-C/GH (untreated during the control period, GH-treated during the extension), 2) SHOX-D-GH/GH, and 3) Turner-GH/GH (GH-treated during both study periods).
  
  
  METHODS
  Short-statured prepubertal patients with genetically confirmed SHOX deficiency (n = 49) or Turner syndrome (n = 24) who participated in the extension.
  
  
  METHODS
  Depending on the study arm, patients received a daily sc injection of 0.05 mg/kg recombinant human GH from start of the study or start of the extension until attainment of FH or study closure.
  
  
  RESULTS
  Height SD score gain from start of GH treatment to FH was similar between the combined SHOX-deficient groups (n = 28, 1.34 ± 0.18 [least-squares mean ± SE]) and the Turner group (n = 19, 1.32 ± 0.22). In this FH population, 57% of the patients with SHOX deficiency and 32% of the patients with Turner syndrome achieved a FH greater than -2 SD score.
  
  
  CONCLUSIONS
  GH treatment in short children with SHOX deficiency showed similar long-term efficacy as seen in girls with Turner syndrome.
authors.affiliation: Eli Lilly and Company, Werner-Reimers-Strasse 2-4, D-61352 Bad Homburg, Germany. wernblum@gmail.com
authors.forename: Werner F
authors.initials: WF
authors.lastname: Blum
authors.forename: Judith L
authors.initials: JL
authors.lastname: Ross
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: Gabriel
authors.initials: G
authors.lastname: Kalifa
authors.forename: Cheri
authors.initials: C
authors.lastname: Deal
authors.forename: Stenvert L S
authors.initials: SL
authors.lastname: Drop
authors.forename: Gudrun
authors.initials: G
authors.lastname: Rappold
authors.forename: Gordon B
authors.initials: GB
authors.lastname: Cutler
mesh_terms: D000365:Age Determination by Skeleton; D001827:Body Height / Q000187:drug effects*; D002648:Child; D002675:Child, Preschool; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics*; D019382:Human Growth Hormone / Q000009:adverse effects / Q000627:therapeutic use*; D006801:Humans; D008297:Male; D011446:Prospective Studies; D011627:Puberty; D000074122:Short Stature Homeobox Protein; D014424:Turner Syndrome / Q000188:drug therapy* / Q000503:physiopathology
chemical_list: D018398:Homeodomain Proteins; C106071:SHOX protein, human; D000074122:Short Stature Homeobox Protein; D019382:Human Growth Hormone