PURPOSE Acromegaly is a cause of secondary osteoporosis and is associated with increased risk of vertebral fractures (VFs). The influence of exon 3-deleted isoform of growth hormone receptor (d3-GHR) on bone microarchitecture has not been studied in acromegaly. AIM The aim of this study was to analyze the associations between d3-GHR isoform and bone mineral density (BMD), bone microarchitecture, and VFs in acromegaly patients. METHODS Consecutive acromegaly patients treated at a single reference center were included. BMD was analyzed using dual-energy X-ray absorptiometry (DXA) and bone microarchitecture was analyzed by high-resolution peripheral quantitative computed tomography (HR-pQCT). The presence of moderate to severe VFs was assessed by thoracic and lumbar X-ray. GHR genotyping was analyzed by PCR, and full-length isoform of GHR (fl-GHR) was represented by a 935-bp fragment and d3-GHR by a 532-bp fragment. RESULTS Eighty-nine patients were included [56 females; median age at diagnosis: 43 years (17-78)]. Disease was uncontrolled in 63% of patients. At least one d3-GHR allele was present in 60% of patients. Frequency of active disease (p = 0.276) and hypogonadism (p = 1.000) was not different between patients with fl-GHR and those with at least one d3-GHR. There was no difference in any DXA or HR-pQCT parameters between patients with fl-GHR and those with d3-GHR. Significant VFs were observed in 14% of patients, but there was no difference in frequency between patients with fl-GHR and those with at least one d3-GHR allele (p = 0.578). CONCLUSIONS Presence of d3-GHR was not associated with worse BMD or bone microarchitecture or with higher frequency of significant VFs.

中文翻译：

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外显子3缺失的生长激素受体亚型与骨矿物质密度或微结构变差或肢端肥大症骨折风险增加无关。

目的肢端肥大症是继发性骨质疏松的原因，并与椎骨骨折（VFs）的风险增加有关。尚未在肢端肥大症中研究外显子3缺失的生长激素受体（d3-GHR）亚型对骨骼微结构的影响。目的本研究的目的是分析肢端肥大症患者的d3-GHR同工型与骨矿物质密度（BMD），骨微结构和VF之间的关系。方法包括在单个参考中心接受治疗的连续肢端肥大症患者。使用双能X射线吸收法（DXA）对BMD进行了分析，并通过高分辨率外围定量计算机断层扫描（HR-pQCT）对了骨微结构进行了分析。通过胸部和腰部X射线评估中度至重度VF的存在。通过PCR分析GHR基因型，GHR（fl-GHR）的全长同工型以935-bp片段表示，d3-GHR以532-bp的片段表示。结果纳入89例患者[56例女性; 诊断中位年龄：43岁（17-78）]。63％的患者无法控制疾病。60％的患者中至少存在d3-GHR等位基因。在患有fl-GHR的患者和患有至少一种d3-GHR的患者之间，活动性疾病（p = 0.276）和性腺功能减退（p = 1.000）的频率没有差异。fl-GHR患者和d3-GHR患者之间的任何DXA或HR-pQCT参数均无差异。在14％的患者中观察到了显着的VF，但是在fl-GHR患者与至少一个d3-GHR等位基因患者之间，频率无差异（p = 0.578）。