title: The common exon 3 polymorphism of the growth hormone receptor gene and the effect of growth hormone therapy on growth in Korean patients with Turner syndrome.
abstract: OBJECTIVE
  Recombinant human growth hormone (GH) can achieve final adult height gain in girls with Turner syndrome (TS), but its efficacy varies widely across individuals. The exon 3-deleted polymorphism of growth hormone receptor (d3-GHR) has been reported to be associated with responsiveness to GH therapy. The short-term growth response of Turner patients to GH therapy was analysed according to their GHR-exon 3 polymorphism genotype.
  
  
  METHODS
  This was a retrospective study of 175 TS patients. Auxological and endocrine parameters were measured, and the GHR-exon 3 genotype was analysed. Allelic frequencies of GHR-exon 3 genotype were compared between patients with TS and control individuals. GH had been administered to 147 patients, 115 of which remained pre-pubertal after the first follow-up year. Changes in height standard deviation score (SDS), height velocity (HV), body mass index (BMI), IGF-1 and IGF binding protein-3 (IGFBP-3) concentrations were compared between these patients, grouped according to genotype, after the first follow-up year.
  
  
  RESULTS
  There was no difference in GHR-exon 3 genotype frequency between the TS and control groups of Koreans. According to the GHR-exon 3 genotype (fl/fl group vs. d3/fl and d3/d3 group), HV gain and height SDS gain did not differ significantly at the first year of GH therapy. Moreover, changes in IGF-1, IGFBP-3 concentration and BMI showed no significant difference between the groups with and without d3-GHR after 1 year of GH therapy.
  
  
  CONCLUSIONS
  The distribution of the GHR-exon 3 genotype was similar in the TS and control groups in a Korean population. The growth promotion efficacy of GH therapy did not differ significantly between TS patients with and without the d3-GHR allele. These findings indicate that the GHR-exon 3 genotype may not be a major factor to affect the GH response in Korean Turner patients.
authors.affiliation: Department of Medical Genetics, Ajou Medical Center, University of Ajou College of Medicine, Suwon, Korea.
authors.forename: Jung Min
authors.initials: JM
authors.lastname: Ko
authors.forename: Jae-Min
authors.initials: JM
authors.lastname: Kim
authors.forename: Chong-Kun
authors.initials: CK
authors.lastname: Cheon
authors.forename: Duk-Hee
authors.initials: DH
authors.lastname: Kim
authors.forename: Dae-Yeol
authors.initials: DY
authors.lastname: Lee
authors.forename: Woo Yeong
authors.initials: WY
authors.lastname: Cheong
authors.forename: Eun Young
authors.initials: EY
authors.lastname: Kim
authors.forename: Mi Jung
authors.initials: MJ
authors.lastname: Park
authors.forename: Han-Wook
authors.initials: HW
authors.lastname: Yoo
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D044466:Asian People / Q000235:genetics; D002648:Child; D005091:Exons / Q000235:genetics*; D005260:Female; D005838:Genotype; D019382:Human Growth Hormone / Q000627:therapeutic use*; D006801:Humans; D007621:Karyotyping; D011110:Polymorphism, Genetic / Q000235:genetics*; D011986:Receptors, Somatotropin / Q000235:genetics*; D014424:Turner Syndrome / Q000188:drug therapy* / Q000235:genetics*; D055815:Young Adult
chemical_list: D011986:Receptors, Somatotropin; D019382:Human Growth Hormone