{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T14:47:54Z","timestamp":1791298074796,"version":"4.1.0"},"reference-count":14,"publisher":"SAGE Publications","issue":"3","license":[{"start":{"date-parts":[[2005,5,1]],"date-time":"2005-05-01T00:00:00Z","timestamp":1114905600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatr Dev Pathol"],"published-print":{"date-parts":[[2005,5]]},"abstract":"<jats:p> A 5-month-old boy with no history of vomiting, early sexual development, or noticeable significant illness was found dead in bed. Autopsy demonstrated bilateral adrenal hyperplasia unequivocally shown on biochemical testing of blood and urine to be due to 21-hydroxylase deficiency. Genetic analysis of the CYP21 gene showed compound heterozygosity; 1 allele contained a pseudogene sequence (gene conversion) and the other contained a previously described I172N point mutation. On theoretical grounds, the genotype would have been expected to cause simple virilizing congenital adrenal hyperplasia but, because no other cause of death could be found, it is possible that it caused a fatally severe loss of enzyme activity in this child. If this assumption is valid, newborn screening would have prevented this death, had it been available. <\/jats:p>","DOI":"10.1007\/s10024-005-0004-0","type":"journal-article","created":{"date-parts":[[2005,7,11]],"date-time":"2005-07-11T09:48:07Z","timestamp":1121075287000},"page":"397-401","source":"Crossref","is-referenced-by-count":15,"title":["Autopsy Diagnosis of 21-Hydroxylase Deficiency CAH in a Case of Apparent SIDS"],"prefix":"10.1177","volume":"8","author":[{"given":"Tiziana G.","family":"Gozzi","sequence":"first","affiliation":[{"name":"Centre for Hormone Research, Royal Children's Hospital, Melbourne, Parkville Victoria 3052, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naomi P","family":"Harris","sequence":"additional","affiliation":[{"name":"Centre for Hormone Research, Royal Children's Hospital, Melbourne, Parkville Victoria 3052, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivan N.","family":"McGown","sequence":"additional","affiliation":[{"name":"Department of Mater Health Services Pathology, Mater Children's Hospital, Brisbane, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David M.","family":"Cowley","sequence":"additional","affiliation":[{"name":"Department of Mater Health Services Pathology, Mater Children's Hospital, Brisbane, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew M.","family":"Cotterill","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Mater Children's Hospital, Brisbane, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter E.","family":"Campbell","sequence":"additional","affiliation":[{"name":"Victorian Institute of Forensic Medicine, 57\u201383 Cavanagh Street, Southbank, Victoria 3006, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P. Kym","family":"Anderson","sequence":"additional","affiliation":[{"name":"Geelong Hospital, Barwon Health, Ryrie Street, Geelong, Victoria, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Garry L.","family":"Warne","sequence":"additional","affiliation":[{"name":"Centre for Hormone Research, Royal Children's Hospital, Melbourne, Parkville Victoria 3052, Australia"},{"name":"Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Parkville Victoria 3052, Australia"},{"name":"Department of Paediatrics, University of Melbourne, Melbourne, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2005,5,1]]},"reference":[{"key":"bibr1-s10024-005-0004-0","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2004.04.052"},{"key":"bibr2-s10024-005-0004-0","first-page":"245","volume":"21","author":"White PC","year":"2000","journal-title":"Endocr Rev"},{"key":"bibr3-s10024-005-0004-0","first-page":"2958","volume":"86","author":"Kovacs J","year":"2001","journal-title":"J Clin Endocrinol Metab"},{"key":"bibr4-s10024-005-0004-0","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(98)70060-5"},{"key":"bibr5-s10024-005-0004-0","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199308053290601"},{"key":"bibr6-s10024-005-0004-0","first-page":"2322","volume":"80","author":"Wilson RC","year":"1995","journal-title":"J Clin Endocrinol Metab"},{"key":"bibr7-s10024-005-0004-0","doi-asserted-by":"crossref","unstructured":"Joint LWPES\/ESPE CAH Working Group. Consensus statement on 21-hydroxylase deficiency. J Clin Endocrinol Metab 2003;87:4048\u20134053.","DOI":"10.1210\/jc.2002-020611"},{"key":"bibr8-s10024-005-0004-0","doi-asserted-by":"crossref","unstructured":"Working Group on Neonatal Screening of the European Society for Paediatric Endocrinology. Procedure for neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Horm Res 2001;55:201\u2013205.","DOI":"10.1159\/000049996"},{"key":"bibr9-s10024-005-0004-0","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2000.109437"},{"key":"bibr10-s10024-005-0004-0","doi-asserted-by":"publisher","DOI":"10.1016\/S0889-8529(08)70017-3"},{"key":"bibr11-s10024-005-0004-0","first-page":"206","volume":"55","author":"Honour JW","year":"2001","journal-title":"Horm Res"},{"key":"bibr12-s10024-005-0004-0","first-page":"42","volume":"47","author":"Medvedev NIU","year":"1985","journal-title":"Arkhiv Patologii"},{"key":"bibr13-s10024-005-0004-0","doi-asserted-by":"publisher","DOI":"10.1007\/BF01225413"},{"key":"bibr14-s10024-005-0004-0","doi-asserted-by":"publisher","DOI":"10.1016\/0379-0738(80)90193-0"}],"container-title":["Pediatric and Developmental Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1007\/s10024-005-0004-0","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1007\/s10024-005-0004-0","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,3,10]],"date-time":"2025-03-10T19:04:08Z","timestamp":1741633448000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1007\/s10024-005-0004-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,5]]},"references-count":14,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2005,5]]}},"alternative-id":["10.1007\/s10024-005-0004-0"],"URL":"https:\/\/doi.org\/10.1007\/s10024-005-0004-0","relation":{},"ISSN":["1093-5266","1615-5742"],"issn-type":[{"value":"1093-5266","type":"print"},{"value":"1615-5742","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,5]]}}}