title: The impact of the d3-growth hormone receptor (d3-GHR) polymorphism on the therapeutic effect of growth hormone replacement in children with idiopathic growth hormone deficiency in Poland.
abstract: OBJECTIVE
  The human growth hormone receptor (GHR) exon 3 deletion (d3) polymorphism has been reported to be associated with the responsiveness to growth hormone (GH) therapy. This study aimed to: (a) assess the frequency of this polymorphism in a group of Polish children with idiopathic growth hormone deficiency (IGHD) and (b) analyze their response to GH therapy.
  
  
  METHODS
  The study group consisted of 67 prepubertal children with IGHD. The control group was composed of 150 Caucasian newborns from whom umbilical cord blood samples were drawn. A genotype analysis was performed using the PCR multiplex technique in search for the existence or deletion of exon 3 of the GHR gene.
  
  
  RESULTS
  In the study group the following genotype distribution was observed: fl/fl-GHR 64.2%; fl/d3-GHR 29.9%; d3/d3-GHR 5.9%. The total percentage of patients with d3-GHR polymorphism was 35.8% and 64.2% patients had a fl/fl-GHR. No significant differences were noted in growth rate SD before introducing therapy and growth rate after one year of recombinant human GH therapy in patients with individual genotypes. In the control group the genotype distribution was: fl/fl-GHR 63.3%; fl/d3-GHR 29.9%; d3/d3-GHR 6.8%.
  
  
  CONCLUSIONS
  No differences were observed in genotype distribution between the study and the control group. Patients with IGHD did not differ among each other depending on their genotype (fl/fl-GHR or fl/d3-GHR) in terms of growth velocity before introducing therapy or growth rate after one year of recombinant human GH therapy.
authors.affiliation: Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology of the Developmental Age, Pomeranian Medical University, Szczecin, Poland.
authors.forename: Justyna
authors.initials: J
authors.lastname: Szmit-Domagalska
authors.affiliation: Department of Laboratory Diagnostics and Molecular Medicine, Pomeranian Medical University, Szczecin, Poland.
authors.forename: Elżbieta
authors.initials: E
authors.lastname: Petriczko
authors.affiliation: Department of Laboratory Diagnostics and Molecular Medicine, Pomeranian Medical University, Szczecin, Poland.
authors.forename: Marta
authors.initials: M
authors.lastname: Drozdzynska
authors.affiliation: Laboratory of Gerontobiology, Pomeranian Medical University, Szczecin, Poland.
authors.forename: Grazyna
authors.initials: G
authors.lastname: Adler
authors.affiliation: Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology of the Developmental Age, Pomeranian Medical University, Szczecin, Poland.
authors.forename: Anita
authors.initials: A
authors.lastname: Horodnicka-Jozwa
authors.affiliation: Department of Laboratory Diagnostics and Molecular Medicine, Pomeranian Medical University, Szczecin, Poland.
authors.forename: Andrzej
authors.initials: A
authors.lastname: Ciechanowicz
authors.affiliation: Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology of the Developmental Age, Pomeranian Medical University, Szczecin, Poland.
authors.forename: Mieczysław
authors.initials: M
authors.lastname: Walczak
mesh_terms: D016022:Case-Control Studies; D002648:Child; D005091:Exons; D005260:Female; D005838:Genotype; D006130:Growth Disorders / Q000188:drug therapy / Q000235:genetics*; D013006:Growth Hormone / Q000627:therapeutic use; D020249:Hormone Replacement Therapy / Q000379:methods; D019382:Human Growth Hormone / Q000172:deficiency*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011044:Poland; D011110:Polymorphism, Genetic; D011986:Receptors, Somatotropin / Q000235:genetics*; D011994:Recombinant Proteins / Q000627:therapeutic use
chemical_list: D011986:Receptors, Somatotropin; D011994:Recombinant Proteins; D019382:Human Growth Hormone; D013006:Growth Hormone