| 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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MedLine Citation:
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PMID: 19681916 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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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:
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Type: Journal Article; Research Support, Non-U.S. Gov't Date: 2009-08-04 |
Journal Detail:
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Title: Clinical endocrinology Volume: 72 ISSN: 1365-2265 ISO Abbreviation: Clin. Endocrinol. (Oxf) Publication Date: 2010 Feb |
Date Detail:
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Created Date: 2010-05-07 Completed Date: 2010-08-25 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0346653 Medline TA: Clin Endocrinol (Oxf) Country: England |
Other Details:
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Languages: eng Pagination: 196-202 Citation Subset: IM |
Affiliation:
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Department of Medical Genetics, Ajou Medical Center, University of Ajou College of Medicine, Suwon, Korea. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Alleles Asian Continental Ancestry Group / genetics Child Exons / genetics* Female Genotype Human Growth Hormone / therapeutic use* Humans Karyotyping Polymorphism, Genetic / genetics* Receptors, Somatotropin / genetics* Turner Syndrome / drug therapy*, genetics* Young Adult |
| Chemical | |
Reg. No./Substance:
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0/Receptors, Somatotropin; 12629-01-5/Human Growth Hormone |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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