作 者: (苏星); (王成芷); (王安平); (赵坤); (吴韬光); (孙屹); (孙杰); (常正尧); (郭清华); (母义明);
机构地区: 中国人民解放军总医院内分泌科,北京100853
出 处: 《中华内分泌代谢杂志》 2017年第8期702-704,共3页
摘 要: 垂体柄中断综合征(pituitary stalk interruption syndrome,PSIS)是近些年来内分泌领域较新发现的一种罕见病,主要临床特点是垂体发育异常,如垂体柄缺失或纤细、后叶异位和垂体前叶发育不同,以及由于下丘脑分泌的一系列促激素释放激素无法发挥应有的生理学作用而引发不同程度的垂体前叶功能异常。本文立足于从基因角度人手,概述其在胚胎发育过程中的影响,并简要介绍全基因组外显子测序技术目前针对该疾病的研究现状。 Pituitary stalk interruption syndrome (PSIS) is a newly discovered rare endocrinological syndrome characterized by structrual defect of pituitary and multiple deficiencies of a series of hypothalanlic hormones, and thus leading to a cluster of clinical symptoms. This review will illustrate the genetic pathogenic factors influence on embryonic development, and briefly introduce the current studies of Whole-Exome Sequencing on PSIS.