{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T08:55:54Z","timestamp":1762505754130},"reference-count":0,"publisher":"Oxford University Press (OUP)","issue":"1","content-domain":{"domain":["eje.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2011,7]]},"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Familial neurohypophyseal (central) diabetes insipidus (DI) is caused by mutations in the arginine vasopressin\u2013neurophysin II (<jats:italic>AVP\u2013NPII<\/jats:italic>) gene. The majority of cases is inherited in an autosomal dominant way. In this study, we present the clinical features of a mother and her son with autosomal dominant neurohypophyseal DI caused by a novel mutation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case<\/jats:title><jats:p>A thirty-four-year-old woman and her three-year-old son were evaluated because of polyuria and polydipsia since the age of 1.5 years onwards. Both patients were subjected to a water deprivation test confirming the diagnosis of central DI. Magnetic resonance imaging of the brain of the mother showed a hypothalamus without apparent abnormalities and a relatively small neurohypophysis without a hyperintense signal. Mutation analysis showed a c.322G&gt;T (p.?\/p.Glu108X) in Exon 2 of the <jats:italic>AVP\u2013NPII<\/jats:italic> gene in both mother and son.<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion<\/jats:title><jats:p>This study reports neurohypophyseal DI in a mother and her son due to a novel mutation in Exon 2 of the <jats:italic>AVP\u2013NPII<\/jats:italic> gene. Clinical and pathophysiological aspects of this disease are shortly reviewed and discussed.<\/jats:p><\/jats:sec>","DOI":"10.1530\/eje-11-0048","type":"journal-article","created":{"date-parts":[[2011,4,16]],"date-time":"2011-04-16T07:31:22Z","timestamp":1302939082000},"page":"161-165","update-policy":"http:\/\/dx.doi.org\/10.1530\/crossmarkpolicy-1","source":"Crossref","is-referenced-by-count":14,"title":["Familial neurohypophyseal diabetes insipidus due to a novel mutation in the arginine vasopressin\u2013neurophysin II gene"],"prefix":"10.1093","volume":"165","author":[{"given":"M","family":"de Fost","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A S P","family":"van Trotsenburg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H M","family":"van Santen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E","family":"Endert","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"van den Elzen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E J","family":"Kamsteeg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D F","family":"Swaab","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E","family":"Fliers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","container-title":["European Journal of Endocrinology"],"original-title":[],"link":[{"URL":"https:\/\/eje.bioscientifica.com\/view\/journals\/eje\/165\/1\/161.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/eje.bioscientifica.com\/view\/journals\/eje\/165\/1\/161.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,2,14]],"date-time":"2023-02-14T16:26:23Z","timestamp":1676391983000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ejendo\/article\/165\/1\/161\/6676934"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,7]]},"references-count":0,"journal-issue":{"issue":"1"},"URL":"https:\/\/doi.org\/10.1530\/eje-11-0048","relation":{},"ISSN":["0804-4643","1479-683X"],"issn-type":[{"value":"0804-4643","type":"print"},{"value":"1479-683X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,7]]}}}