{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T14:09:53Z","timestamp":1773238193947,"version":"3.50.1"},"reference-count":6,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Reports"],"accepted":{"date-parts":[[2016,5,13]]},"abstract":"<jats:p>Isolated ACTH deficiency (IAD) is a rare cause of neonatal cholestasis and hypoglycaemia. This diagnosis has a 20% mortality potential if unrecognised. We describe a case of an infant presenting with cholestatic jaundice and hypoglycaemia. The patient had laboratory findings suggestive of IAD, which was later confirmed with molecular genetic testing. One of the mutations this patient had is a new finding. The patient was started on glucocorticoid replacement therapy after which his bilirubin and glucose levels normalised.<\/jats:p>","DOI":"10.1136\/bcr-2016-215032","type":"journal-article","created":{"date-parts":[[2016,8,17]],"date-time":"2016-08-17T09:57:33Z","timestamp":1471427853000},"page":"bcr2016215032","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":15,"title":["Neonatal isolated ACTH deficiency (IAD): a potentially life-threatening but treatable cause of neonatal cholestasis"],"prefix":"10.1136","volume":"2016","author":[{"given":"Mahdi","family":"Alsaleem","sequence":"first","affiliation":[{"name":"Detroit Medical Center, Detroit, Michigan, USA"},{"name":"Wayne State University, Detroit, Michigan, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lina","family":"Saadeh","sequence":"additional","affiliation":[{"name":"Detroit Medical Center, Detroit, Michigan, USA"},{"name":"Wayne State University, Detroit, Michigan, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amrit","family":"Misra","sequence":"additional","affiliation":[{"name":"Wayne State University, Detroit, Michigan, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shailender","family":"Madani","sequence":"additional","affiliation":[{"name":"Wayne State University, Detroit, Michigan, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2016,8,17]]},"reference":[{"key":"2025082803371048000_2016.aug17_2.bcr2016215032.1","doi-asserted-by":"crossref","first-page":"E486","DOI":"10.1210\/jc.2011-1659","article-title":"Phenotypic homogeneity and genotypic variability in a large series of congenital isolated ACTH-deficiency patients with TPIT gene mutations","volume":"97","author":"Couture","year":"2011","journal-title":"J Clin Endocrinol Metab"},{"key":"2025082803371048000_2016.aug17_2.bcr2016215032.2","doi-asserted-by":"publisher","DOI":"10.1542\/pir.28-3-83"},{"key":"2025082803371048000_2016.aug17_2.bcr2016215032.3","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2004-1300"},{"key":"2025082803371048000_2016.aug17_2.bcr2016215032.4","doi-asserted-by":"publisher","DOI":"10.1530\/eje.0.1460463"},{"key":"2025082803371048000_2016.aug17_2.bcr2016215032.5","doi-asserted-by":"publisher","DOI":"10.1530\/eje.0.1510463"},{"key":"2025082803371048000_2016.aug17_2.bcr2016215032.6","doi-asserted-by":"publisher","DOI":"10.1530\/acta.0.0520404"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2016-215032","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T10:37:16Z","timestamp":1756377436000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2016-215032"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,8,17]]},"references-count":6,"alternative-id":["10.1136\/bcr-2016-215032"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2016-215032","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,8,17]]}}}