{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T11:10:29Z","timestamp":1787656229779,"version":"build-2736575974"},"reference-count":15,"publisher":"Walter de Gruyter GmbH","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,5,27]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2023-0541_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>The genetic causes of pituitary stalk interruption syndrome (PSIS) remain elusive in 95\u202f% of cases. The roundabout receptor-1 gene (<jats:italic>ROBO1<\/jats:italic>) plays critical roles in axonal guidance and cell migration. Recently, mutations in the <jats:italic>ROBO1<\/jats:italic> gene have been reported patients with PSIS.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2023-0541_abs_002\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>We report a 2.9-year-old boy with PSIS who presented with combined pituitary hormone deficiency, central diabetes insipidus, and the classical triad of MRI findings. Through clinical exome sequencing using next-generation sequencing techniques, a previously unidentified novel heterozygous frame shift mutation in the <jats:italic>ROBO1<\/jats:italic> gene was identified. This is the first report of <jats:italic>ROBO1<\/jats:italic> mutation associated with posterior pituitary dysfunction.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2023-0541_abs_003\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>We conclude and emphasize that <jats:italic>ROBO1<\/jats:italic> should be investigated in patients with PSIS. Our case is unique in the published literature in that we are first time reporting posterior pituitary dysfunction as manifestation of <jats:italic>ROBO1<\/jats:italic> mutation. The full clinical spectrum of the mutations may not be fully known.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2023-0541","type":"journal-article","created":{"date-parts":[[2024,3,6]],"date-time":"2024-03-06T07:42:34Z","timestamp":1709710954000},"page":"477-481","source":"Crossref","is-referenced-by-count":5,"title":["Pituitary stalk interruption syndrome due to novel <i>ROBO1<\/i> mutation presenting as combined pituitary hormone deficiency and central diabetes insipidus"],"prefix":"10.1515","volume":"37","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8186-3139","authenticated-orcid":false,"given":"Raiz Ahmad","family":"Misgar","sequence":"first","affiliation":[{"name":"Department of Endocrinology , 29078 Sher-i-Kashmir Institute of Medical Sciences , Srinagar , Kashmir , India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9770-5645","authenticated-orcid":false,"given":"Ankit","family":"Chhabra","sequence":"additional","affiliation":[{"name":"Department of Endocrinology , 29078 Sher-i-Kashmir Institute of Medical Sciences , Srinagar , Kashmir , India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1390-2102","authenticated-orcid":false,"given":"Ajaz","family":"Qadir","sequence":"additional","affiliation":[{"name":"Department of Endocrinology , 29078 Sher-i-Kashmir Institute of Medical Sciences , Srinagar , Kashmir , India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-6865-0570","authenticated-orcid":false,"given":"Sidharth","family":"Arora","sequence":"additional","affiliation":[{"name":"Department of Endocrinology , 29078 Sher-i-Kashmir Institute of Medical Sciences , Srinagar , Kashmir , India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2757-9203","authenticated-orcid":false,"given":"Arshad Iqbal","family":"Wani","sequence":"additional","affiliation":[{"name":"Department of Endocrinology , 29078 Sher-i-Kashmir Institute of Medical Sciences , Srinagar , Kashmir , India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5399-1536","authenticated-orcid":false,"given":"Mir Iftikhar","family":"Bashir","sequence":"additional","affiliation":[{"name":"Department of Endocrinology , 29078 Sher-i-Kashmir Institute of Medical Sciences , Srinagar , Kashmir , India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8664-9614","authenticated-orcid":false,"given":"Shariq Rashid","family":"Masoodi","sequence":"additional","affiliation":[{"name":"Department of Endocrinology , 29078 Sher-i-Kashmir Institute of Medical Sciences , Srinagar , Kashmir , India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2024,3,7]]},"reference":[{"key":"2024081908520410764_j_jpem-2023-0541_ref_001","doi-asserted-by":"crossref","unstructured":"Zhu, X, Wang, J, Ju, BG, Rosenfeld, MG. 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