Andujar-Plata P, Fernandez-Rodriguez E, Quinteiro C, Casanueva F F, Bernabeu I
Endocrinology Division, Complejo Hospitalario Universitario de Santiago de Compostela, Universidad de Santiago de Compostela, Travesía da Choupana s/n, 15706, Santiago de Compostela, La Coruña, Spain.
Pituitary. 2015 Feb;18(1):101-7. doi: 10.1007/s11102-014-0562-0.
The treatment of adults with GH deficiency (GHD) with human recombinant growth hormone has interindividual variability and several factors influence it. The aims of this study were : 1-to analyze the GH receptor (GHR) genotype in terms of exon 3 deletion GHR (d3-GHR) in adults with GHD; 2-to assess the effects of d3-GHR on initial IGF-I levels; 3-to evaluate whether d3-GHR and/or initial IGF-I levels were associated with adverse effects and/or treatment discontinuation.
Forty-four adult patients with GHD were included. Demographic, clinical and biochemical characteristics were retrospectively evaluated at baseline and 6 months, 1 and 3 years after the initiation of treatment. d3-GHR was analyzed in 35 patients.
37.1% of patients were d3-GHR carriers (31.4% heterozygous, 5.7% homozygous). IGF-I at baseline was low in 64% of patients and was not related to d3-GHR status. There was no association between the d3-GHR allele and baseline IGF-I (p = 0.14). Although adverse events were more frequent in the d3-GHR carriers (30.7 vs. 18.2% in fl/fl) and in patients with normal IGF-I levels at diagnosis (43.7 vs. 17.8% in patients with low IGF-I levels), this association was not statistically significant. d3-GHR status was not related to the incidence of adverse events (p = 0.4) or treatment discontinuation (p = 0.47). Baseline IGF-I levels were neither associated with adverse events (p = 0.08) nor treatment discontinuation (p = 0.75).
The d3-GHR allele was not related to baseline levels of IGF-I. Neither d3-GHR nor baseline IGF-I level was related to adverse events or treatment discontinuation.
使用重组人生长激素治疗成人生长激素缺乏症（GHD）存在个体差异，且有多种因素影响。本研究的目的是：1. 分析成人GHD患者中第3外显子缺失生长激素受体（d3-GHR）的生长激素受体（GHR）基因型；2. 评估d3-GHR对初始胰岛素样生长因子-I（IGF-I）水平的影响；3. 评估d3-GHR和/或初始IGF-I水平是否与不良反应和/或治疗中断相关。
纳入44例成年GHD患者。回顾性评估基线时以及治疗开始后6个月、1年和3年的人口统计学、临床和生化特征。对35例患者进行d3-GHR分析。
37.1%的患者为d3-GHR携带者（31.4%为杂合子，5.7%为纯合子）。64%的患者基线时IGF-I水平较低，且与d3-GHR状态无关。d3-GHR等位基因与基线IGF-I之间无关联（p = 0.14）。尽管d3-GHR携带者的不良事件更频繁（分别为30.7%和18.2%，fl/fl组），且诊断时IGF-I水平正常的患者中不良事件更频繁（分别为43.7%和17.8%，IGF-I水平低的患者），但这种关联无统计学意义。d3-GHR状态与不良事件发生率（p = 0.4）或治疗中断（p = 0.47）无关。基线IGF-I水平既与不良事件（p = 0.08）无关，也与治疗中断（p = 0.75）无关。
d3-GHR等位基因与IGF-I的基线水平无关。d3-GHR和基线IGF-I水平均与不良事件或治疗中断无关。
