Research advances in etiology of pituitary stalk interruption syndrome / 中华实用儿科临床杂志

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.