Influence of Growth Hormone Receptor d3 and Full-Length Isoforms on Biochemical Treatment Outcomes in Acromegaly
Influence of Growth Hormone Receptor d3 and Full-Length Isoforms on Biochemical Treatment Outcomes in Acromegaly
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DOI：
10.1210/jc.2008-1337
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发表时间：
2009-06-01
影响因子：
5.8
通讯作者：
De Marinis, Laura
中科院分区：
文献类型：
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作者：
Bianchi, Antonio;Giustina, Andrea;De Marinis, Laura
内容：在肢端肥大症中，高达35%的受试者在诊断时和随访期间观察到每个给定患者的GH和IGF-I的“正常”水平之间存在差异。目的：本研究的目的是评估GH受体（GHR）多态性对肢端肥大症治疗的生化评估以及GH和IGF-I不一致水平的患病率的影响。这项研究是在一个机构转诊中心在三级保健hospital.Design，患者和方法：我们前瞻性和回顾性研究了84个连续的肢端肥大症患者的活动性疾病神经外科手术后，用生长抑素类似物治疗。结果：GH受体第3外显子缺失（d3-GHR）40例（47.6%）。神经外科手术后，研究人群中的67例受试者（79.8%），一致的活动性肢端肥大症患者，具有高IGF-I和平均GH水平高于2 ng/ml，而其余17例患者（20.2%，不一致的活动性肢端肥大症患者）显示这两个参数之间不一致（高IGF-I和GH水平
Context: In acromegaly, a discrepancy between what are defined as "normal" levels of GH and IGF-I for every given patient is observed in up to 35% of subjects at diagnosis and during the follow-up.Objective: The aim of the study was to evaluate the impact of GH receptor (GHR) polymorphism on the biochemical assessment of the treatment of acromegaly and on prevalence of discordant levels of GH and IGF-I.Setting: The study was performed in an institutional referral center at a tertiary care hospital.Design, Patients, and Methods: We studied prospectively and retrospectively 84 consecutive acromegalic patients with active disease after neurosurgery and treated them with somatostatin analogs. The GHR genotype (flfl, fld3, or d3d3) was determined from peripheral blood.Results: Lack of exon 3 of GH receptor (d3-GHR) was found in 40 of 84 patients (47.6%). After neurosurgery, 67 subjects (79.8%) of the study population, concordant active acromegalic patients, had high IGF-I and mean GH levels above 2 ng/ml, whereas the remaining 17 patients (20.2%, discordant active acromegalic patients) showed discordance between these two parameters (high IGF-I and GH levels