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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.

Ko, JM; Kim, JM; Cheon, CK; Kim, DH; Lee, DY; Cheong, WY; Kim, EY; Park, MJ; Yoo, HW
Clinical endocrinology, 72(2):196-202, 2010
Journal Title
Clinical endocrinology
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.
MeSH terms
AdolescentAdultAllelesAsian Continental Ancestry Group/geneticsChildExons/*geneticsFemaleGenotypeHuman Growth Hormone/*therapeutic useHumansKaryotypingPolymorphism, Genetic/*geneticsReceptors, Somatotropin/*geneticsTurner Syndrome/*drug therapy/*geneticsYoung Adult
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Journal Papers > School of Medicine / Graduate School of Medicine > Medical Genetics
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