{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,4,4]],"date-time":"2022-04-04T21:36:57Z","timestamp":1649108217835},"reference-count":24,"publisher":"Walter de Gruyter GmbH","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,11,27]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background:<\/jats:title><jats:p>X-linked adrenal hypoplasia congenita (AHC) is caused by mutations in<\/jats:p><\/jats:sec><jats:sec><jats:title>Case presentation:<\/jats:title><jats:p>Herein we report a 2.5-year-old boy who presented with acute adrenal failure. Family history revealed unexplained death in three brothers of the patient\u2019s mother during infancy. Molecular analysis of the<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions:<\/jats:title><jats:p>mutation must be considered when diagnosis of primary adrenocortical insufficiency is made, especially if there is a history of unexplained death of maternal male relatives.<\/jats:p><\/jats:sec>","DOI":"10.1515\/jpem-2017-0261","type":"journal-article","created":{"date-parts":[[2017,11,3]],"date-time":"2017-11-03T19:18:16Z","timestamp":1509736696000},"source":"Crossref","is-referenced-by-count":2,"title":["A novel DAX-1 (NR0B1) mutation in a boy with X-linked adrenal hypoplasia congenita"],"prefix":"10.1515","volume":"30","author":[{"given":"Karine","family":"Gerster","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudia","family":"Katschnig","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sascha","family":"Wyss","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne","family":"Kolly","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrick","family":"Sproll","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Biason-Lauber","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel","family":"Konrad","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","reference":[{"key":"ref21","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1038\/3822","article-title":"Role 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