{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,5,8]],"date-time":"2022-05-08T10:41:32Z","timestamp":1652006492428},"reference-count":0,"publisher":"Hogrefe Publishing Group","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Praxis"],"published-print":{"date-parts":[[2008,2,1]]},"abstract":"<jats:p> Wir berichten \u00fcber eine heute 34-j\u00e4hrige Frau, die im Alter von 6 Monaten wegen rezidivierendem Erbrechen hospitalisiert werden musste. Als Ursache fand sich eine Nebenniereninsuffizienz mit Verminderung s\u00e4mtlicher Hormone der Steroidhormonbiosynthese. Die weiteren Abkl\u00e4rungen ergaben bei dem ph\u00e4notypisch weiblichen S\u00e4ugling eine lipoide kongenitale adrenale Hyperplasie mit 46,XY DSD. 24 Jahre sp\u00e4ter konnte in der DNS-Sequenzanalyse ein homozygoter, in der Schweiz vorkommender Basenaustausch des steroidogenic acute regulatory protein-Gens gefunden werden, welcher zu einem Aminos\u00e4urenaustausch Leucin 260 Prolin (L260P) f\u00fchrt. <\/jats:p>","DOI":"10.1024\/1661-8157.98.1.31","type":"journal-article","created":{"date-parts":[[2013,2,2]],"date-time":"2013-02-02T02:14:22Z","timestamp":1359771262000},"page":"31-34","source":"Crossref","is-referenced-by-count":0,"title":["Von Hermaphroditos der griechischen Mythologie bis zu DSD der Moderne"],"prefix":"10.1024","volume":"98","author":[{"family":"Oestmann","sequence":"first","affiliation":[{"name":"Universit\u00e4tsklinik f\u00fcr Allgemeine Innere Medizin, Inselspital Bern"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"family":"Mullis","sequence":"additional","affiliation":[{"name":"P\u00e4diatrische Endokrinologie, Diabetologie und Metabolik, Inselspital Bern"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"family":"Stanga","sequence":"additional","affiliation":[{"name":"Universit\u00e4tsklinik f\u00fcr Allgemeine Innere Medizin und Poliklinik f\u00fcr Endokrinologie, Diabetologie und Klinische Ern\u00e4hrung, Inselspital Bern"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"101","container-title":["Praxis"],"original-title":[],"language":"de","link":[{"URL":"https:\/\/econtent.hogrefe.com\/doi\/pdf\/10.1024\/1661-8157.98.1.31","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,5,8]],"date-time":"2022-05-08T10:08:17Z","timestamp":1652004497000},"score":1,"resource":{"primary":{"URL":"https:\/\/econtent.hogrefe.com\/doi\/10.1024\/1661-8157.98.1.31"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,2,1]]},"references-count":0,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2008,2,1]]}},"alternative-id":["10.1024\/1661-8157.98.1.31"],"URL":"https:\/\/doi.org\/10.1024\/1661-8157.98.1.31","relation":{},"ISSN":["1661-8157","1661-8165"],"issn-type":[{"value":"1661-8157","type":"print"},{"value":"1661-8165","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,2,1]]}}}