Pincelli Angela Ida, Masera Nicoletta, Tavecchia Luisa, Perotti Mario, Perra Silvia, Mariani Raffaela, Piperno Alberto, Mancia Giuseppe, Grassi Guido, Masera Giuseppe
Clinica Medica, Universitá Milano-Bicocca, Ospedale San Gerardo dei Tintori Via Pergolesi 33, Monza, Italy.
Pediatr Endocrinol Rev. 2011 Mar;8 Suppl 2:284-9.
Endocrine complications in Β-thalassemia represent a prominent cause of morbidity. Above all, dysfunction of GH-IGF-1 axis is of a major concern because of its pathogenic role on cardiac and bone disease, frequently described in this clinical setting. The aim of this paper is to analyze GH-IGF-1 axis in a cohort of 25 adult patients affected by Β-thalassemia. We found that GH deficiency was present in only 8% of our patients if diagnosis was based on GH peak below 9μg/L to two GH provocative tests instead of only one, and was mainly related to iron overload. On the contrary, IGF-1 production was impaired in a higher percentage of patients (72%), without significant correlation with iron burden. Of note, patients with hepatitis C virus infection showed lower IGF-1 concentrations than uninfected subjects despite a normal GH reserve, suggesting that partial GH insensitivity at the post-receptor level may play a key role in IGF-1 deficiency described in thalassemic patients.
β地中海贫血的内分泌并发症是发病的一个主要原因。最重要的是,生长激素-胰岛素样生长因子-1(GH-IGF-1)轴功能障碍备受关注,因为它在这种临床情况下常引发的心脏和骨骼疾病中具有致病作用。本文旨在分析25例成年β地中海贫血患者的GH-IGF-1轴。我们发现,如果根据两次生长激素激发试验中生长激素峰值低于9μg/L而非仅一次来诊断,我们的患者中仅有8%存在生长激素缺乏,且这主要与铁过载有关。相反,更高比例的患者(72%)存在胰岛素样生长因子-1生成受损,与铁负荷无显著相关性。值得注意的是,丙型肝炎病毒感染患者尽管生长激素储备正常,但胰岛素样生长因子-1浓度低于未感染患者,这表明受体后水平的部分生长激素不敏感可能在β地中海贫血患者的胰岛素样生长因子-1缺乏中起关键作用。