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The signs and symptoms of <jats:styled-content style=\"fixed-case\">PSIS<\/jats:styled-content> during the neonatal period and infancy are often overlooked and therefore diagnosis is delayed. The typical manifestations of <jats:styled-content style=\"fixed-case\">PSIS<\/jats:styled-content> can be detected by magnetic resonance imaging. Several genes in the Wnt, Notch and Shh signalling pathways related to hypothalamic\u2010pituitary development, such as <jats:italic><jats:styled-content style=\"fixed-case\">PIT<\/jats:styled-content>1<\/jats:italic>,<jats:italic> <jats:styled-content style=\"fixed-case\">PROP<\/jats:styled-content>1<\/jats:italic>,<jats:italic> <jats:styled-content style=\"fixed-case\">LHX<\/jats:styled-content>3\/<jats:styled-content style=\"fixed-case\">LHX<\/jats:styled-content>4<\/jats:italic>,<jats:italic> <jats:styled-content style=\"fixed-case\">PROKR<\/jats:styled-content>2<\/jats:italic>,<jats:italic> <jats:styled-content style=\"fixed-case\">OTX<\/jats:styled-content>2<\/jats:italic>,<jats:italic> <jats:styled-content style=\"fixed-case\">TGIF<\/jats:styled-content><\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">HESX<\/jats:styled-content>1<\/jats:italic>, have been found to be associated with <jats:styled-content style=\"fixed-case\">PSIS<\/jats:styled-content>. Nevertheless, the aetiology in the majority of cases still remains unknown. In the present review, we provide an overview of clinical features of <jats:styled-content style=\"fixed-case\">PSIS<\/jats:styled-content> and summarise our current understanding of the underlying pathogenic mechanisms for this rare syndrome. Furthermore, we propose future research directions that may help our understanding of the aetiology of <jats:styled-content style=\"fixed-case\">PSIS<\/jats:styled-content>.<\/jats:p>","DOI":"10.1111\/jne.12451","type":"journal-article","created":{"date-parts":[[2016,12,5]],"date-time":"2016-12-05T05:29:07Z","timestamp":1480915747000},"source":"Crossref","is-referenced-by-count":63,"title":["Pituitary Stalk Interruption Syndrome: From Clinical Findings to Pathogenesis"],"prefix":"10.1111","volume":"29","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5697-0194","authenticated-orcid":false,"given":"C.\u2010Z.","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Endocrinology Chinese PLA General Hospital Beijing 100853 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.\u2010L.","family":"Guo","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Chinese PLA General Hospital Beijing 100853 China"},{"name":"Department of 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