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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.

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dc.contributor.authorKo, JM-
dc.contributor.authorKim, JM-
dc.contributor.authorCheon, CK-
dc.contributor.authorKim, DH-
dc.contributor.authorLee, DY-
dc.contributor.authorCheong, WY-
dc.contributor.authorKim, EY-
dc.contributor.authorPark, MJ-
dc.contributor.authorYoo, HW-
dc.date.accessioned2011-06-07T02:04:14Z-
dc.date.available2011-06-07T02:04:14Z-
dc.date.issued2010-
dc.identifier.issn0300-0664-
dc.identifier.urihttp://repository.ajou.ac.kr/handle/201003/2806-
dc.description.abstractOBJECTIVE: 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.
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dc.language.isoen-
dc.subject.MESHAdolescent-
dc.subject.MESHAdult-
dc.subject.MESHAlleles-
dc.subject.MESHAsian Continental Ancestry Group-
dc.subject.MESHChild-
dc.subject.MESHExons-
dc.subject.MESHFemale-
dc.subject.MESHGenotype-
dc.subject.MESHHuman Growth Hormone-
dc.subject.MESHHumans-
dc.subject.MESHKaryotyping-
dc.subject.MESHPolymorphism, Genetic-
dc.subject.MESHReceptors, Somatotropin-
dc.subject.MESHTurner Syndrome-
dc.subject.MESHYoung Adult-
dc.titleThe 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.-
dc.typeArticle-
dc.identifier.pmid19681916-
dc.identifier.urlhttp://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0300-0664&date=2010&volume=72&issue=2&spage=196-
dc.contributor.affiliatedAuthor고, 정민-
dc.type.localJournal Papers-
dc.identifier.doi10.1111/j.1365-2265.2009.03681.x-
dc.citation.titleClinical endocrinology-
dc.citation.volume72-
dc.citation.number2-
dc.citation.date2010-
dc.citation.startPage196-
dc.citation.endPage202-
dc.identifier.bibliographicCitationClinical endocrinology, 72(2). : 196-202, 2010-
dc.identifier.eissn1365-2265-
dc.relation.journalidJ003000664-
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Medical Genetics
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