{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T22:17:47Z","timestamp":1792275467910,"version":"4.4.0"},"reference-count":0,"publisher":"Oxford University Press (OUP)","issue":"5","content-domain":{"domain":["eje.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2019,11]]},"abstract":"<jats:p>Pituitary stalk interruption syndrome (PSIS) is a congenital pituitary anatomical defect. This syndrome is an antenatal developmental defect belonging to the holoprosencephaly phenotype spectrum. It is heterogeneous regarding clinical, biological and radiological presentation and is characterized by the following triad: thin (&lt;1\u2009mm) or interrupted pituitary stalk connecting the hypothalamus to the pituitary gland, no eutopic posterior lobe, and hypoplasia or aplasia of the anterior lobe. This review reports current knowledge about the composite pathogenesis, for which underlying mechanisms remain unclear. Current data suggest genetic origins involving early developmental gene mutations with complex inheritance patterns and environmental influence, placing PSIS at the crossroads between Mendelian and multifactorial diseases. The phenotype associated with PSIS is highly heterogeneous with a high incidence of various combinations of hormonal deficiencies, sometimes associated with extra-pituitary birth defects. The age at onset is variable, but typical presentation is evolutive combined anterior pituitary hormone deficiencies at pediatric age, which progress even during adulthood to panhypopituitarism. Therefore, patients\u2019 follow-up throughout life is essential for adequate management.<\/jats:p>","DOI":"10.1530\/eje-19-0168","type":"journal-article","created":{"date-parts":[[2019,9,3]],"date-time":"2019-09-03T15:44:17Z","timestamp":1567525457000},"page":"R199-R209","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-1","source":"Crossref","is-referenced-by-count":85,"title":["DIAGNOSIS OF ENDOCRINE DISEASE: Pituitary stalk interruption syndrome: etiology and clinical manifestations"],"prefix":"10.1093","volume":"181","author":[{"given":"Julia","family":"Vergier","sequence":"first","affiliation":[{"name":"1Aix-Marseille Universit\u00e9, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale (INSERM), U1251, Marseille Medical Genetics (MMG), Marseille, France"},{"name":"2Assistance Publique-H\u00f4pitaux de Marseille (AP-HM), Centre de R\u00e9f\u00e9rence des Maladies Rares de l\u2019hypophyse HYPO, Marseille, France"},{"name":"3Assistance-Publique des H\u00f4pitaux de Marseille (AP-HM), Department of Pediatrics, H\u00f4pital de la Timone Enfants, Marseille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frederic","family":"Castinetti","sequence":"additional","affiliation":[{"name":"1Aix-Marseille Universit\u00e9, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale (INSERM), U1251, Marseille Medical Genetics (MMG), Marseille, France"},{"name":"2Assistance Publique-H\u00f4pitaux de Marseille (AP-HM), Centre de R\u00e9f\u00e9rence des Maladies Rares de l\u2019hypophyse HYPO, Marseille, France"},{"name":"4Assistance-Publique des H\u00f4pitaux de Marseille (AP-HM), Department of Endocrinology, H\u00f4pital de la Conception, Marseille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandru","family":"Saveanu","sequence":"additional","affiliation":[{"name":"1Aix-Marseille Universit\u00e9, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale (INSERM), U1251, Marseille Medical Genetics (MMG), Marseille, France"},{"name":"2Assistance Publique-H\u00f4pitaux de Marseille (AP-HM), Centre de R\u00e9f\u00e9rence des Maladies Rares de l\u2019hypophyse HYPO, Marseille, France"},{"name":"5Assistance-Publique des H\u00f4pitaux de Marseille (AP-HM), Laboratory of Molecular Biology, H\u00f4pital de la Conception, Marseille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadine","family":"Girard","sequence":"additional","affiliation":[{"name":"6Aix-Marseille Universit\u00e9, UMR CNRS 7339, Marseille, France"},{"name":"7Assistance-Publique des H\u00f4pitaux de Marseille (AP-HM), Department of Neuroradiology, H\u00f4pital de la Timone Adultes, Marseille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thierry","family":"Brue","sequence":"additional","affiliation":[{"name":"1Aix-Marseille Universit\u00e9, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale (INSERM), U1251, Marseille Medical Genetics (MMG), Marseille, France"},{"name":"2Assistance Publique-H\u00f4pitaux de Marseille (AP-HM), Centre de R\u00e9f\u00e9rence des Maladies Rares de l\u2019hypophyse HYPO, Marseille, France"},{"name":"4Assistance-Publique des H\u00f4pitaux de Marseille (AP-HM), Department of Endocrinology, H\u00f4pital de la Conception, Marseille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel","family":"Reynaud","sequence":"additional","affiliation":[{"name":"1Aix-Marseille Universit\u00e9, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale (INSERM), U1251, Marseille Medical Genetics (MMG), Marseille, France"},{"name":"2Assistance Publique-H\u00f4pitaux de Marseille (AP-HM), Centre de R\u00e9f\u00e9rence des Maladies Rares de l\u2019hypophyse HYPO, Marseille, France"},{"name":"3Assistance-Publique des H\u00f4pitaux de Marseille (AP-HM), Department of Pediatrics, H\u00f4pital de la Timone Enfants, Marseille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","container-title":["European Journal of 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