Pituitary stalk interruption syndrome: From clinical findings to pathogenesis

Abstract

Pituitary stalk interruption syndrome is a rare congenital defect manifesting with varying degrees of pituitary hormone deficiency. The signs and symptoms of PSIS during the neonatal period and infancy are often overlooked and therefore diagnosis is delayed. The typical manifestations of PSIS can be detected by magnetic resonance imaging. Several genes in Wnt, Notch and Shh signaling pathways related to hypothalamic-pituitary development, such as PIT1, PROP1, LHX3/LHX4, PROKR2, OTX2, TGIF and HESX1, have been found to be associated with PSIS. 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 the underlying pathogenic mechanisms for this rare syndrome. Furthermore, we propose future research directions that may help understand the etiology of PSIS.

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