title: SHOX gene variants: growth hormone/insulin-like growth factor-1 status and response to growth hormone treatment.
abstract: BACKGROUND
  Short stature homeobox-containing gene (SHOX) variants of unknown clinical significance occur frequently among children with short stature, yet their growth hormone (GH)/insulin-like growth factor-1 (IGF-1) status and response to GH have not been studied.
  
  
  OBJECTIVE
  To define GH and IGF-1 status in children with SHOX variants and assess their response to GH.
  
  
  METHODS
  This is a retrospective review of children with short stature. Children with SHOX variants were compared to those with no variants. Height standard deviation scores (SDS) and IGF-1 SDS at baseline and during GH treatment at 6, 12, and 24 months were analyzed. Growth velocity (GV), maximum GH dose, IGF-BP3, and changes in height SDS, IGF-1 SDS, and GV were compared.
  
  
  RESULTS
  Among 355 children, 83 (23%) had SHOX variants. Nineteen different SHOX variants were detected. There was no difference in age, height SDS, IGF-1 SDS, or IGF-BP3 between children with SHOX variants and those with normal SHOX. Height SDS, IGF-1 SDS, IGF-BP3, GV, and GH dose were not different between patients with SHOX variants and those without.
  
  
  CONCLUSIONS
  The GH and IGF-1 characteristics of children with short stature were not different between children with SHOX+ variants and children with no variants. Although these findings suggest that SHOX variants are polymorphisms, studies prospectively comparing individual SHOX variants are needed.
authors: Division of Pediatric Endocrinology and Diabetes, Mount Sinai School of Medicine, New York, N.Y., USA.
authors: Sofia
authors: S
authors: Shapiro
authors: Genna W
authors: GW
authors: Klein
authors: Michelle L
authors: ML
authors: Klein
authors: Elizabeth J
authors: EJ
authors: Wallach
authors: Ye
authors: Y
authors: Fen
authors: James H
authors: JH
authors: Godbold
authors: Robert
authors: R
authors: Rapaport
mesh_terms: D000293:Adolescent; D001827:Body Height / Q000187:drug effects / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006130:Growth Disorders / Q000188:drug therapy / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics*; D020249:Hormone Replacement Therapy; D019382:Human Growth Hormone / Q000097:blood* / Q000494:pharmacology / Q000627:therapeutic use; D006801:Humans; D007334:Insulin-Like Growth Factor I / Q000378:metabolism*; D008297:Male; D012189:Retrospective Studies; D000074122:Short Stature Homeobox Protein; D016896:Treatment Outcome
chemical_list: D018398:Homeodomain Proteins; C106071:SHOX protein, human; D000074122:Short Stature Homeobox Protein; D019382:Human Growth Hormone; D007334:Insulin-Like Growth Factor I