{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,31]],"date-time":"2025-10-31T07:39:59Z","timestamp":1761896399709},"reference-count":0,"publisher":"Walter de Gruyter GmbH","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2001,9,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p> We present a family with X-linked adrenal hypoplasia congenita (AHC) due to a truncation mutation in the DAX1 gene. The three patient reports demonstrate variable clinical and biochemical features at presentation. They presented with adrenal crises at 3 years, 4 weeks, and 3 weeks. Mineralocorticoid deficiency preceded glucocorticoid deficiency in patient 3 and an early ultrasound indicated normal sized adrenal tissue. Genetic analysis showed that potential female carriers were unaffected.<\/jats:p>","DOI":"10.1515\/jpem-2001-0804","type":"journal-article","created":{"date-parts":[[2016,11,1]],"date-time":"2016-11-01T10:02:35Z","timestamp":1477994555000},"page":"1093-1096","source":"Crossref","is-referenced-by-count":29,"title":["Variable Presentation of X-linked Adrenal Hypoplasia Congenita"],"prefix":"10.1515","volume":"14","author":[{"given":"Esko","family":"Wiltshire","sequence":"first","affiliation":[{"name":"Department of Endocrinology, Women\u2019s and Children\u2019s Hospital Australia"},{"name":"Department of Paediatrics, University of Adelaide, North Adelaide, South Australia, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. Jennifer","family":"Couper","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Women\u2019s and Children\u2019s Hospital Australia"},{"name":"Department of Paediatrics, University of Adelaide, North Adelaide, South Australia 5006, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine","family":"Rodda","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Monash University and Monash Medical Centre, Clayton, Victoria, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. Larry","family":"Jameson","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Metabolism and Molecular Medicine, Northwestern University Medical School, Chicago, IL, United States of America"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John C.","family":"Achermann","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Metabolism and Molecular Medicine, Northwestern University Medical School, Chicago, IL, United States of America"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2016,10,11]]},"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.degruyter.com\/view\/j\/jpem.2001.14.issue-8\/jpem-2001-0804\/jpem-2001-0804.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2001-0804\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2001-0804\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,2,10]],"date-time":"2023-02-10T17:15:45Z","timestamp":1676049345000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2001-0804\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,9,1]]},"references-count":0,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2016,10,11]]},"published-print":{"date-parts":[[2001,9,1]]}},"alternative-id":["10.1515\/jpem-2001-0804"],"URL":"https:\/\/doi.org\/10.1515\/jpem-2001-0804","relation":{},"ISSN":["2191-0251","0334-018X"],"issn-type":[{"value":"2191-0251","type":"electronic"},{"value":"0334-018X","type":"print"}],"subject":[],"published":{"date-parts":[[2001,9,1]]}}}