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Although mutations have been identified in some familial cases, the underpinning mechanisms of sporadic patients with <jats:styled-content style=\"fixed-case\">PSIS<\/jats:styled-content> who are in a vast majority remain elusive, necessitating a comprehensive study using systemic approaches. We postulate that other genetic mechanisms may be responsible for the sporadic <jats:styled-content style=\"fixed-case\">PSIS<\/jats:styled-content>. To test this hypothesis, we conducted a study in 24 patients with <jats:styled-content style=\"fixed-case\">PSIS<\/jats:styled-content> of Han Chinese with no family history using whole\u2010exome sequencing (<jats:styled-content style=\"fixed-case\">WES<\/jats:styled-content>) and bioinformatic analysis. We identified a group of heterozygous mutations in 92% (22 of 24) of the patients, and these genes are mostly associated with Notch, Shh, Wnt signalling pathways. Importantly, 83% (20 of 24) of the patients had more than one mutation in those pathways suggesting synergy of compound mutations underpin the pathogenesis of sporadic <jats:styled-content style=\"fixed-case\">PSIS<\/jats:styled-content>.<\/jats:p>","DOI":"10.1111\/jcmm.13272","type":"journal-article","created":{"date-parts":[[2017,7,14]],"date-time":"2017-07-14T07:26:39Z","timestamp":1500017199000},"page":"3626-3632","source":"Crossref","is-referenced-by-count":23,"title":["Multi\u2010genic pattern found in rare type of hypopituitarism: a whole\u2010exome sequencing study of Han Chinese with pituitary stalk interruption syndrome"],"prefix":"10.1111","volume":"21","author":[{"given":"Qing\u2010Hua","family":"Guo","sequence":"first","affiliation":[{"name":"Department of Endocrinology Chinese PLA General Hospital Beijing China"},{"name":"Department of Endocrinology Hainan Branch of Chinese PLA General Hospital Sanya Hainan 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