垂体柄阻断综合征的病因分析及诊疗进展

Etiology analysis and treatment of pituitary stalk interruption syndrome

垂体柄阻断综合征（PSIS）的病因和发病机制目前尚不明确。近来研究表明，有遗传因素参与PSIS的发生、发展，尤以HESX1、LHX4基因缺陷最为密切。PSIS的临床表现复杂多样，随不同年龄及不同垂体激素缺乏而表现各异。早期诊治对患者激素缺乏症状的改善至关重要，MRI是唯一能明确此病诊断的影像学方法，胰岛素样生长因子及其结合蛋白3可与MRI联合提高对PSIS的诊断率。

The etiology and pathogenesis of pituiatary stalk interrccption syndrome （PSIS） is still unclear. Recent studies suggest that genetic factors take a great part in the etiopathogenisis of PSIS, especially the defect of gene HESX1 and LHX4. The clinical manifestations of PSIS are complex and diverse, because they change with different ages and different types of hormone deficiencies. Early diagnosis and treatment is very important to improve the clinical manifestation of these patients. MRI is the only imageological examination to diagnose PSIS, and insulin-like growth factor-1 and its binding protein 3 combined with MRI can improve the diagnostic rate of PSIS.