From the perspective of embryonic development on genetic pathogenic factors of pituitary stalk interruption syndrome / 中华内分泌代谢杂志

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.