Research advances in etiology of pituitary stalk interruption syndrome

VernacularTitle:垂体柄阻断综合征病因学研究进展
Author: Xiaobo CHEN ¹ ; Ziqin LIU ; Kang GAO
Author Information

1. 100020,首都儿科研究所附属儿童医院内分泌科
Keywords: Pituitary stalk interruption syndrome; Genetic origin; Ontogenesis
From: Chinese Journal of Applied Clinical Pediatrics 2018;33(8):561-564
CountryChina
Language:Chinese
Abstract: 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.