title: The exon 3-deleted/full-length growth hormone receptor polymorphism and response to growth hormone therapy in growth hormone deficiency and Turner syndrome: a multicenter study.
abstract: OBJECTIVE
  The exon 3-deleted/full-length (d3/fl) growth hormone (GH) receptor (GHR) polymorphism has been associated with responsiveness to GH therapy in some diagnostic groups. However, there are still controversies on this issue. To evaluate the effect of the GHR exon 3 polymorphism on growth after 1 and 2 years of GH therapy in Turkish patients with GH deficiency (GHD) and Turner's syndrome (TS) and the distribution of GHR exon 3 isoforms.
  
  
  METHODS
  218 patients with GHD (125 males/93 females) and 43 patients with TS were included in the study. The control group included 477 healthy adults aged from 18 to 57 years (54 females/423 males). Anthropometric parameters and insulin-like growth factor (IGF)-1 and IGF binding protein (IGFBP)-3 were evaluated annually. GHR isoforms were studied using simple multiplex PCR. Height and body mass index were expressed as standard deviation score (SDS).
  
  
  RESULTS
  There were no differences among TS, GHD and healthy adults regarding the distribution of GHR exon 3 isoforms (fl/fl, fl/d3 and d3/d3). There was a significant increase in height SDS in both diagnostic groups on GH therapy; however, there were neither differences in height SDS and Δheight velocity between fl/fl, fl/d3 and d3/d3 groups nor a correlation between the distribution of GHR exon 3 isoforms and change in IGF-1 SDS and IGFBP-3 SDS levels on GH therapy in either of the diagnostic groups. There was also no gender difference in GHR isoforms in healthy adults.
  
  
  CONCLUSIONS
  The results suggest that responsiveness to GH therapy does not depend on the exon 3 GHR genotypes in GHD and TS patients.
authors.affiliation: Pediatric Endocrinology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey. firdevsb@istanbul.edu.tr
authors.forename: Firdevs
authors.initials: F
authors.lastname: Baş
authors.forename: Feyza
authors.initials: F
authors.lastname: Darendeliler
authors.forename: Zehra
authors.initials: Z
authors.lastname: Aycan
authors.forename: Ergun
authors.initials: E
authors.lastname: Çetinkaya
authors.forename: Merih
authors.initials: M
authors.lastname: Berberoğlu
authors.forename: Zeynep
authors.initials: Z
authors.lastname: Sıklar
authors.forename: Gönül
authors.initials: G
authors.lastname: Öcal
authors.forename: Özlem
authors.initials: Ö
authors.lastname: Timirci
authors.forename: Semra
authors.initials: S
authors.lastname: Çetinkaya
authors.forename: Şükran
authors.initials: Ş
authors.lastname: Darcan
authors.forename: Damla
authors.initials: D
authors.lastname: Gökşen Şimşek
authors.forename: Aysun
authors.initials: A
authors.lastname: Bideci
authors.forename: Peyami
authors.initials: P
authors.lastname: Cinaz
authors.forename: Ece
authors.initials: E
authors.lastname: Böber
authors.forename: Korcan
authors.initials: K
authors.lastname: Demir
authors.forename: Abdullah
authors.initials: A
authors.lastname: Bereket
authors.forename: Serap
authors.initials: S
authors.lastname: Turan
authors.forename: M Emre
authors.initials: ME
authors.lastname: Atabek
authors.forename: Filiz
authors.initials: F
authors.lastname: Tütüncüler
authors.forename: Turgay
authors.initials: T
authors.lastname: Isbir
authors.forename: Nilüfer
authors.initials: N
authors.lastname: Bozkurt
authors.forename: Sema
authors.initials: S
authors.lastname: Kabataş Eryılmaz
authors.forename: Ozan
authors.initials: O
authors.lastname: Uzunhan
authors.forename: Banu
authors.initials: B
authors.lastname: Küçükemre Aydın
authors.forename: Rüveyde
authors.initials: R
authors.lastname: Bundak
mesh_terms: D000293:Adolescent; D001827:Body Height / Q000187:drug effects; D002648:Child; D002657:Child Development / Q000187:drug effects; D002675:Child, Preschool; D005091:Exons; D005260:Female; D017353:Gene Deletion; D005787:Gene Frequency; D056726:Genetic Association Studies; D020249:Hormone Replacement Therapy; D019382:Human Growth Hormone / Q000172:deficiency* / Q000627:therapeutic use*; D006801:Humans; D018972:Insulin-Like Growth Factor Binding Protein 3 / Q000097:blood; D007334:Insulin-Like Growth Factor I / Q000032:analysis; D008297:Male; D011110:Polymorphism, Genetic; D011986:Receptors, Somatotropin / Q000235:genetics* / Q000378:metabolism; D011994:Recombinant Proteins / Q000627:therapeutic use; D012189:Retrospective Studies; D014421:Turkey; D014424:Turner Syndrome / Q000097:blood / Q000188:drug therapy* / Q000235:genetics*
chemical_list: C515497:IGFBP3 protein, human; D018972:Insulin-Like Growth Factor Binding Protein 3; D011986:Receptors, Somatotropin; D011994:Recombinant Proteins; D019382:Human Growth Hormone; D007334:Insulin-Like Growth Factor I