垂体柄阻断综合征病因学研究进展

Research advances in etiology of pituitary stalk interruption syndrome

垂体柄阻断综合征（PSIS）是指垂体柄明显变细或缺如、垂体前叶发育不良和垂体后叶异位，使下丘脑分泌的激素不能通过垂体柄输送到垂体所致的临床系列症候群。PSIS发病机制目前尚不清楚，围生期损伤和先天性下丘脑垂体发育不良可能是导致PSIS的病因。随着遗传学技术的发展，到目前为止已有10种点突变及多种染色体微缺失或微重复导致PSIS的报道。现就PSIS的病因学研究进展进行综述。

Pituitary stalk interruption syndrome （PSIS） is characterized by a thin or absent pituitary stalk,hypoplasia of the adenohypophysis, and ectopic neurohypophysis. PSIS manifestations include a wide spectrum of clinical phenotypes and pituitary hormone deficiencies of variable degree and timing of onset. To date, the underlying mechanisms involved in PSIS ontogenesis have remained unclear. Perinatal injury and abnormal pituitary development during the embryonic period have more recently been proposed. Thus far, 10 genes mutations,chromosome micro deletions and micro duplications are proved to have been associated with PSIS. Now, the research advances of etiology of PSIS ave reviewed.