Pituitary stalk interruption syndrome: Clinical features and progress in etiology / 中华内分泌代谢杂志

ABSTRACT

Pituitary stalk interruption syndrome(PSIS), as a rare congenital defect manifesting with varying degrees of pituitary hormone deficiency, its diagnosis is frequently delayed in clinical practice for the signs and symptoms during the neonatal period and infancy are often overlooked. The typical features of PSIS can be detected by magnetic resonance imaging. Several genes in Wnt, Notch, and Shh signaling pathways that related to hypothalamic-pituitary development, have been found to be associated with this rare syndrome. Nevertheless, the etiology in the majority of cases still remains unknown.In this review, we provide an overview of clinical features of PSIS and summarize our current understanding of its etiology. Furthermore, we propose future research directions for it. This manuscript is a Chinese translation version of review article entitled Pituitary stalk interruption syndrome from clinical findings and pathogenesis in Journal of Neuroendocrinlogy[Journal of Neuroendocrinology,2017,29(1)DOI 10.1111/jne.12451]. The authors have attained permissions from Journal of Neuroendocrinology and John Wiley and Sons Ltd.