From the perspective of embryonic development on genetic pathogenic factors of pituitary stalk interruption syndrome

VernacularTitle:从胚胎发育说起——垂体柄中断综合征的基因研究进展
Author: Xing SU ; Chengzhi WANG ; Anping WANG ; Kun ZHAO ; Taoguang WU ; Yi SUN ; Jie SUN ; Zhengyao CHANG ; Qinghua GUO ; Yiming MU
Keywords: Pituitary stalk interruption syndrome; Embryoninc development; Genetic pathogenic factors; Whole-exome sequencing
From: Chinese Journal of Endocrinology and Metabolism 2017;33(8):702-704
CountryChina
Language:Chinese
Abstract: 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 hypothalamic 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.