title: Radiological Features in Patients with Short Stature Homeobox-Containing (SHOX) Gene Deficiency and Turner Syndrome before and after 2 Years of GH Treatment.
abstract: OBJECTIVE
  The short stature homeobox-containing (SHOX) gene is one of many genes that regulate longitudinal growth. The SHOX deficiency (SHOX-D) phenotype, caused by intragenic or regulatory region defects, ranges from normal stature to mesomelic skeletal dysplasia. We investigated differences in radiological anomalies between patients with SHOX-D and Turner syndrome (TS) and the effect of 2 years of growth hormone (GH) treatment on these anomalies.
  
  
  METHODS
  Left hand/wrist, forearm and lower leg radiographs were assessed at baseline and after 2 years in children with genetically confirmed SHOX-D (GH-treated and untreated groups) and TS (GH-treated) in a randomised, controlled, multinational study.
  
  
  RESULTS
  Radiological anomalies of hand, wrist and forearm were common in SHOX-D and TS. Radial bowing appeared more prevalent in SHOX-D, while lower leg anomalies were more common in TS. There were no significant differences in radiological findings between GH-treated and untreated patients with SHOX-D after 2 years.
  
  
  CONCLUSIONS
  GH treatment had no systematic effect on skeletal findings in SHOX-D, based on limited radiological differences between the GH-treated and untreated groups at 2 years. Bone age radiographs allow assessment of radiological signs indicating a potential diagnosis of SHOX-D and may lead to earlier genetic confirmation and initiation of GH therapy.
authors.affiliation: Lilly Research Laboratories, Eli Lilly and Company, Windlesham, UK.
authors.forename: Christopher J
authors.initials: CJ
authors.lastname: Child
authors.forename: Gabriel
authors.initials: G
authors.lastname: Kalifa
authors.forename: Christine
authors.initials: C
authors.lastname: Jones
authors.forename: Judith L
authors.initials: JL
authors.lastname: Ross
authors.forename: Gudrun A
authors.initials: GA
authors.lastname: Rappold
authors.forename: Charmian A
authors.initials: CA
authors.lastname: Quigley
authors.forename: Alan G
authors.initials: AG
authors.lastname: Zimmermann
authors.forename: Gina
authors.initials: G
authors.lastname: Garding
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; D018398:Homeodomain Proteins / Q000235:genetics*; D019382:Human Growth Hormone / Q000008:administration & dosage*; D006801:Humans; D011859:Radiography; D011884:Radius / Q000000981:diagnostic imaging*; D000074122:Short Stature Homeobox Protein; D014424:Turner Syndrome / Q000000981:diagnostic imaging* / Q000188:drug therapy* / Q000235:genetics*
chemical_list: D018398:Homeodomain Proteins; C106071:SHOX protein, human; D000074122:Short Stature Homeobox Protein; D019382:Human Growth Hormone