关键词: 垂体柄中断综合征, 垂体功能评估, 垂体激素替代治疗, 垂体发育异常

Abstract: Pituitary stalk interruption syndrome （PSIS） is a significant pituitary development defect that can be identified by magnetic resonance imaging （MRI）， with highly heterogeneous clinical phenotype. The clinical manifestation is progressive pituitary hormone deficiencies， which progress to panhypopituitarism in adulthood. The neonatal onset PSIS is mostly complete pituitary hormone deficiency， which is severe and life-threatening， and it may be accompanied by extrapituitary congenital defects and malformations. The exact etiology and mechanism are not completely understood. This syndrome is early development abnormalities with complex genetic patterns and is associated with environmental factors. In some patients it is associated with genetic variations in signaling pathways that regulate pituitary development during embryonic development. Prompt identification and diagnosis， early intervention and treatment and lifelong follow-up are essential for the prognosis and quality of life in patients with PSIS.

Key words: pituitary stalk interruption syndrome, pituitary function assessment, pituitary hormone replacement therapy, pituitary development abnormalities