垂体柄中断综合征的临床特征及病因学进展  

Pituitary stalk interruption syndrome： Clinical features and progress in etiology

作　　者：王成芷[1] 郭清华[1] 母义明[1] 

机构地区：[1]解放军总医院内分泌代谢科,北京100853

出　　处：《中华内分泌代谢杂志》2017年第3期242-246,共5页Chinese Journal of Endocrinology and Metabolism

摘　　要：垂体柄中断综合征是一个能引起多种垂体激素缺乏的症候群。在新生儿期，其临床表现并不明显，病情往往被忽视并延误了诊断。通过垂体核磁共振扫描。能发现垂体柄中断综合征的典型表现。既往研究发现：在Wnt、Notch及Shh信号通路上的一些与垂体发育相关的基因与部分该症候群患者病因有关，然而大部分患者病因仍不明确。本文概述了该症候群的临床特征及病因学进展，并对其未来的研究策略进行展望。Pituitary stalk interruption syndrome （ PSIS）, as a rare congenital defect manifesting with varying degrees of pituitary hormone deficiency, its diagnosis is frequently delayed in clinical practice for the signs and symptoms during the neonatal period and infancy are often overlooked. The typical features of PSIS can be detected by magnetic resonance imaging. Several genes in Wut, Notch, and Shh signaling pathways that related to hypothalamic- pituitary development, have been found to be associated with this rare syndrome. Nevertheless, the etiology in the majority of cases still remains unknown. In this review, we provide an overview of clinical features of PSIS and summarize our current understanding of its etiology. Furthermore, we propose future research directions for it.

关 键 词：垂体柄中断综合征 病因学 基因突变 

分 类 号：R584[医药卫生—内分泌]