Document Detail

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.
MedLine Citation:
PMID:  19681916     Owner:  NLM     Status:  MEDLINE    
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. DESIGN AND PATIENTS: 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. CONCLUSION: 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.
Jung Min Ko; Jae-Min Kim; Chong-Kun Cheon; Duk-Hee Kim; Dae-Yeol Lee; Woo Yeong Cheong; Eun Young Kim; Mi Jung Park; Han-Wook Yoo
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2009-08-04
Journal Detail:
Title:  Clinical endocrinology     Volume:  72     ISSN:  1365-2265     ISO Abbreviation:  Clin. Endocrinol. (Oxf)     Publication Date:  2010 Feb 
Date Detail:
Created Date:  2010-05-07     Completed Date:  2010-08-25     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0346653     Medline TA:  Clin Endocrinol (Oxf)     Country:  England    
Other Details:
Languages:  eng     Pagination:  196-202     Citation Subset:  IM    
Department of Medical Genetics, Ajou Medical Center, University of Ajou College of Medicine, Suwon, Korea.
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MeSH Terms
Asian Continental Ancestry Group / genetics
Exons / genetics*
Human Growth Hormone / therapeutic use*
Polymorphism, Genetic / genetics*
Receptors, Somatotropin / genetics*
Turner Syndrome / drug therapy*,  genetics*
Young Adult
Reg. No./Substance:
0/Receptors, Somatotropin; 12629-01-5/Human Growth Hormone

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