Department of Medical Genetics, Ajou Medical Center, University of Ajou College of Medicine, Suwon, Korea.
Clin Endocrinol (Oxf). 2010 Feb;72(2):196-202. doi: 10.1111/j.1365-2265.2009.03681.x. Epub 2009 Aug 4.
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.
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.
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.
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.
重组人生长激素（GH）可使特纳综合征（TS）女孩达到最终成年身高增长，但个体间疗效差异很大。生长激素受体（GHR）外显子 3 缺失多态性已被报道与 GH 治疗反应相关。根据 GHR 外显子 3 多态性基因型分析 Turner 患者接受 GH 治疗后的短期生长反应。
这是对 175 例 TS 患者的回顾性研究。测量了人体测量学和内分泌参数，并分析了 GHR 外显子 3 基因型。比较了 TS 患者和对照组个体之间 GHR 外显子 3 基因型的等位基因频率。147 例患者接受了 GH 治疗，其中 115 例在第一次随访后仍处于青春期前。根据基因型将第一次随访后仍处于青春期前的 115 例患者分为不同组，比较了他们的身高标准差评分（SDS）、身高速度（HV）、体重指数（BMI）、IGF-1 和 IGF 结合蛋白-3（IGFBP-3）浓度的变化。
韩国人 TS 组和对照组之间 GHR 外显子 3 基因型频率无差异。根据 GHR 外显子 3 基因型（fl/fl 组与 d3/fl 和 d3/d3 组），GH 治疗第一年 HV 增加和身高 SDS 增加无显著差异。此外，GH 治疗 1 年后，d3-GHR 缺失的 TS 患者和无 d3-GHR 缺失的患者之间 IGF-1、IGFBP-3 浓度和 BMI 的变化无显著差异。
在韩国人群中，TS 组和对照组的 GHR 外显子 3 基因型分布相似。TS 患者有无 d3-GHR 等位基因对 GH 治疗的促生长效果无显著差异。这些发现表明，GHR 外显子 3 基因型可能不是影响韩国 Turner 患者 GH 反应的主要因素。
