{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T09:01:54Z","timestamp":1792227714391,"version":"4.4.0"},"reference-count":38,"publisher":"The Endocrine Society","issue":"3","license":[{"start":{"date-parts":[[2016,11,24]],"date-time":"2016-11-24T00:00:00Z","timestamp":1479945600000},"content-version":"vor","delay-in-days":1364,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/3.0\/us\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2013,3,1]]},"DOI":"10.1210\/jc.2012-3449","type":"journal-article","created":{"date-parts":[[2013,1,31]],"date-time":"2013-01-31T04:07:54Z","timestamp":1359605274000},"page":"E528-E536","source":"Crossref","is-referenced-by-count":40,"title":["Prenatal Diagnosis of Congenital Adrenal Hyperplasia Caused by P450 Oxidoreductase Deficiency"],"prefix":"10.1210","volume":"98","author":[{"given":"Nicole","family":"Reisch","sequence":"first","affiliation":[{"name":"Centre for Endocrinology, Diabetes, and Metabolism (N.R., J.I., B.A.H., H.E.I., V.D., N.K., C.H.L.S., W.A.), School of Clinical and Experimental Medicine, University of Birmingham, Birmingham B15 2TT, United Kingdom"},{"name":"Department of Endocrinology (N.R.), Medizinische Klinik and Poliklinik IV, University Hospital Munich, 80336 Munich, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"Idkowiak","sequence":"additional","affiliation":[{"name":"Centre for Endocrinology, Diabetes, and Metabolism (N.R., J.I., B.A.H., H.E.I., V.D., N.K., C.H.L.S., W.A.), School of Clinical and Experimental Medicine, University of Birmingham, Birmingham B15 2TT, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beverly A.","family":"Hughes","sequence":"additional","affiliation":[{"name":"Centre for Endocrinology, Diabetes, and Metabolism (N.R., J.I., B.A.H., H.E.I., V.D., N.K., C.H.L.S., W.A.), School of Clinical and Experimental Medicine, University of Birmingham, Birmingham B15 2TT, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hannah E.","family":"Ivison","sequence":"additional","affiliation":[{"name":"Centre for Endocrinology, Diabetes, and Metabolism (N.R., J.I., B.A.H., H.E.I., V.D., N.K., C.H.L.S., W.A.), School of Clinical and Experimental Medicine, University of Birmingham, Birmingham B15 2TT, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Omar A.","family":"Abdul-Rahman","sequence":"additional","affiliation":[{"name":"Department of Pediatrics (O.A.A.-R., L.G.H.), University of Mississippi Medical Center, Jackson, Mississippi 39216"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura G.","family":"Hendon","sequence":"additional","affiliation":[{"name":"Department of Pediatrics (O.A.A.-R., L.G.H.), University of Mississippi Medical Center, Jackson, Mississippi 39216"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ann Haskins","family":"Olney","sequence":"additional","affiliation":[{"name":"Munroe-Meyer Institute (A.H.O., S.N.), University of Nebraska Medical Center, Omaha, Nebraska 68198"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shelly","family":"Nielsen","sequence":"additional","affiliation":[{"name":"Munroe-Meyer Institute (A.H.O., S.N.), University of Nebraska Medical Center, Omaha, Nebraska 68198"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel","family":"Harrison","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics (R.H.), City Hospital, Nottingham University Hospitals National Health Service Trust, Nottingham NG5 1PB"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edward M.","family":"Blair","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics (E.M.B.), John Radcliffe Hospital, Oxford OX3 9DU, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vivek","family":"Dhir","sequence":"additional","affiliation":[{"name":"Centre for Endocrinology, Diabetes, and Metabolism (N.R., J.I., B.A.H., H.E.I., V.D., N.K., C.H.L.S., W.A.), School of Clinical and Experimental Medicine, University of Birmingham, Birmingham B15 2TT, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nils","family":"Krone","sequence":"additional","affiliation":[{"name":"Centre for Endocrinology, Diabetes, and Metabolism (N.R., J.I., B.A.H., H.E.I., V.D., N.K., C.H.L.S., W.A.), School of Clinical and Experimental Medicine, University of Birmingham, Birmingham B15 2TT, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cedric H. L.","family":"Shackleton","sequence":"additional","affiliation":[{"name":"Centre for Endocrinology, Diabetes, and Metabolism (N.R., J.I., B.A.H., H.E.I., V.D., N.K., C.H.L.S., W.A.), School of Clinical and Experimental Medicine, University of Birmingham, Birmingham B15 2TT, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wiebke","family":"Arlt","sequence":"additional","affiliation":[{"name":"Centre for Endocrinology, Diabetes, and Metabolism (N.R., J.I., B.A.H., H.E.I., V.D., N.K., C.H.L.S., W.A.), School of Clinical and Experimental Medicine, University of Birmingham, Birmingham B15 2TT, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","reference":[{"key":"key\n\t\t\t\t2019041113262816500_B1","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1016\/j.beem.2008.10.014","article-title":"Genetics of congenital adrenal hyperplasia","volume":"23","author":"Krone","year":"2009","journal-title":"Best Pract Res Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041113262816500_B2","doi-asserted-by":"crossref","first-page":"2128","DOI":"10.1016\/S0140-6736(04)16503-3","article-title":"Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study","volume":"363","author":"Arlt","year":"2004","journal-title":"Lancet"},{"key":"key\n\t\t\t\t2019041113262816500_B3","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1038\/ng1300","article-title":"Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome","volume":"36","author":"Fluck","year":"2004","journal-title":"Nat Genet"},{"key":"key\n\t\t\t\t2019041113262816500_B4","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1111\/j.1365-2265.2006.02740.x","article-title":"Congenital adrenal hyperplasia and P450 oxidoreductase deficiency","volume":"66","author":"Krone","year":"2007","journal-title":"Clin Endocrinol (Oxf)"},{"key":"key\n\t\t\t\t2019041113262816500_B5","doi-asserted-by":"crossref","first-page":"729","DOI":"10.1086\/429417","article-title":"Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis","volume":"76","author":"Huang","year":"2005","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t2019041113262816500_B6","doi-asserted-by":"crossref","first-page":"1723","DOI":"10.1210\/jc.2008-2816","article-title":"Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients","volume":"94","author":"Fukami","year":"2009","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041113262816500_B7","doi-asserted-by":"crossref","first-page":"E453","DOI":"10.1210\/jc.2010-1607","article-title":"Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 oxidoreductase deficiency","volume":"96","author":"Idkowiak","year":"2011","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041113262816500_B8","doi-asserted-by":"crossref","first-page":"E257","DOI":"10.1210\/jc.2011-0640","article-title":"Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency","volume":"97","author":"Krone","year":"2012","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041113262816500_B9","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1002\/ajmg.10510","article-title":"Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia","volume":"110","author":"Kelley","year":"2002","journal-title":"Am J Med Genet"},{"key":"key\n\t\t\t\t2019041113262816500_B10","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1002\/ajmg.b.10873","article-title":"Desmosterolosis presenting with multiple congenital anomalies and profound developmental delay","volume":"113","author":"Andersson","year":"2002","journal-title":"Am J Med Genet"},{"key":"key\n\t\t\t\t2019041113262816500_B11","doi-asserted-by":"crossref","first-page":"336","DOI":"10.1093\/clinids\/22.2.336","article-title":"Fluconazole-induced congenital anomalies in three infants","volume":"22","author":"Pursley","year":"1996","journal-title":"Clin Infect Dis"},{"key":"key\n\t\t\t\t2019041113262816500_B12","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1002\/(SICI)1096-8628(19971031)72:3<253::AID-AJMG1>3.0.CO;2-S","article-title":"Multiple malformation syndrome following fluconazole use in pregnancy: report of an additional patient","volume":"72","author":"Aleck","year":"1997","journal-title":"Am J Med Genet"},{"key":"key\n\t\t\t\t2019041113262816500_B13","doi-asserted-by":"crossref","first-page":"1062","DOI":"10.1097\/00006454-199211120-00017","article-title":"Congenital malformations in an infant born to a woman treated with fluconazole","volume":"11","author":"Lee","year":"1992","journal-title":"Pediatr Infect Dis J"},{"key":"key\n\t\t\t\t2019041113262816500_B14","doi-asserted-by":"crossref","first-page":"1958","DOI":"10.1210\/me.2007-0066","article-title":"Differential inhibition of CYP17A1 and CYP21A2 activities by the P450 oxidoreductase mutant A287P","volume":"21","author":"Dhir","year":"2007","journal-title":"Mol Endocrinol"},{"key":"key\n\t\t\t\t2019041113262816500_B15","doi-asserted-by":"crossref","first-page":"2579","DOI":"10.1210\/me.2007-0245","article-title":"Modulation of human CYP19A1 activity by mutant NADPH P450 oxidoreductase","volume":"21","author":"Pandey","year":"2007","journal-title":"Mol Endocrinol"},{"key":"key\n\t\t\t\t2019041113262816500_B16","doi-asserted-by":"crossref","first-page":"3418","DOI":"10.1210\/jc.2010-0058","article-title":"Concomitant mutations in the P450 oxidoreductase and androgen receptor genes presenting with 46,XY disordered sex development and androgenization at adrenarche","volume":"95","author":"Idkowiak","year":"2010","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041113262816500_B17","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1002\/ajmg.a.30171","article-title":"Prenatal diagnosis of P450 oxidoreductase deficiency (ORD): a disorder causing low pregnancy estriol, maternal and fetal virilization, and the Antley-Bixler syndrome phenotype","volume":"129A","author":"Shackleton","year":"2004","journal-title":"Am J Med Genet A"},{"key":"key\n\t\t\t\t2019041113262816500_B18","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/ajmg.a.30170","article-title":"Undetectable maternal serum uE3 and postnatal abnormal sterol and steroid metabolism in Antley-Bixler syndrome","volume":"129A","author":"Cragun","year":"2004","journal-title":"Am J Med Genet A"},{"key":"key\n\t\t\t\t2019041113262816500_B19","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1258\/jms.2009.009017","article-title":"The ability of the quadruple test to predict adverse perinatal outcomes in a high-risk obstetric population","volume":"16","author":"Lao","year":"2009","journal-title":"J Med Screen"},{"key":"key\n\t\t\t\t2019041113262816500_B20","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1097\/01.AOG.0000172419.37410.eb","article-title":"Quad screen as a predictor of adverse pregnancy outcome","volume":"106","author":"Dugoff","year":"2005","journal-title":"Obstet Gynecol"},{"key":"key\n\t\t\t\t2019041113262816500_B21","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1046\/j.1365-2265.2003.01858.x","article-title":"Adrenarche\u2014physiology, biochemistry and human disease","volume":"60","author":"Auchus","year":"2004","journal-title":"Clin Endocrinol (Oxf)"},{"key":"key\n\t\t\t\t2019041113262816500_B22","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1002\/pd.2284","article-title":"Maternal urine and serum steroid measurements to identify steroid sulfatase deficiency (STSD) in second trimester pregnancies","volume":"29","author":"Marcos","year":"2009","journal-title":"Prenat Diagn"},{"key":"key\n\t\t\t\t2019041113262816500_B23","doi-asserted-by":"crossref","first-page":"2129","DOI":"10.1002\/ajmg.a.31901","article-title":"Dehydrosteroid measurements in maternal urine or serum for the prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS)","volume":"143A","author":"Shackleton","year":"2007","journal-title":"Am J Med Genet A"},{"key":"key\n\t\t\t\t2019041113262816500_B24","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1002\/(SICI)1097-0223(199808)18:8<789::AID-PD345>3.0.CO;2-9","article-title":"Steroid sulphatase deficiency is the major cause of extremely low oestriol production at mid-pregnancy: a urinary steroid assay for the discrimination of steroid sulphatase deficiency from other causes","volume":"18","author":"Glass","year":"1998","journal-title":"Prenat Diagn"},{"key":"key\n\t\t\t\t2019041113262816500_B25","doi-asserted-by":"crossref","first-page":"1017","DOI":"10.1136\/bmj.305.6860.1017-b","article-title":"Antenatal screening for Down's syndrome","volume":"305","author":"Wald","year":"1992","journal-title":"BMJ"},{"key":"key\n\t\t\t\t2019041113262816500_B26","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1046\/j.1469-0705.1993.03010003.x","article-title":"The value of performing a dating scan on all women in antenatal screening for Down's syndrome and neural tube defects","volume":"3","author":"Wald","year":"1993","journal-title":"Ultrasound Obstet Gynecol"},{"key":"key\n\t\t\t\t2019041113262816500_B27","doi-asserted-by":"crossref","first-page":"97.e1","DOI":"10.1016\/j.ajog.2009.02.029","article-title":"Down syndrome screening in the United States in 2001 and 2007: a survey of maternal-fetal medicine specialists","volume":"201","author":"Fang","year":"2009","journal-title":"Am J Obstet Gynecol"},{"key":"key\n\t\t\t\t2019041113262816500_B28","doi-asserted-by":"crossref","first-page":"696","DOI":"10.1210\/jc.2007-2330","article-title":"Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc","volume":"93","author":"Kim","year":"2008","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041113262816500_B29","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1002\/ajmg.1320290115","article-title":"Isolated familial adrenocorticotropin deficiency: prenatal diagnosis by maternal plasma estriol assay","volume":"29","author":"Malpuech","year":"1988","journal-title":"Am J Med Genet"},{"key":"key\n\t\t\t\t2019041113262816500_B30","doi-asserted-by":"crossref","first-page":"991","DOI":"10.1210\/jc.2006-1672","article-title":"Heterozygous missense mutations in steroidogenic factor 1 (SF1\/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function","volume":"92","author":"Lin","year":"2007","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041113262816500_B31","doi-asserted-by":"crossref","first-page":"e322","DOI":"10.1542\/peds.2005-1973","article-title":"Low estriol levels in the maternal triple-marker screen as a predictor of isolated adrenocorticotropic hormone deficiency caused by a new mutation in the TPIT gene","volume":"117","author":"Weintrob","year":"2006","journal-title":"Pediatrics"},{"key":"key\n\t\t\t\t2019041113262816500_B32","doi-asserted-by":"crossref","first-page":"4144","DOI":"10.1210\/jc.2003-030495","article-title":"Congenital hypopituitarism as a cause of undetectable estriol levels in the maternal triple-marker screen","volume":"88","author":"Marshall","year":"2003","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041113262816500_B33","first-page":"380","article-title":"[Adrenal hypoplasia congenita: four new cases in children]","volume":"12","author":"Pelissier","year":"2005","journal-title":"Arch Pediatr"},{"key":"key\n\t\t\t\t2019041113262816500_B34","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1159\/000184976","article-title":"Prenatal diagnosis of congenital adrenal hypoplasia","volume":"46","author":"Peter","year":"1996","journal-title":"Horm Res"},{"key":"key\n\t\t\t\t2019041113262816500_B35","first-page":"1739","article-title":"Aromatase deficiency in a female who is compound heterozygote for two new point mutations in the P450arom gene: impact of estrogens on hypergonadotropic hypogonadism, multicystic ovaries, and bone densitometry in childhood","volume":"82","author":"Mullis","year":"1997","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041113262816500_B36","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1016\/j.abb.2003.07.003","article-title":"5\u03b1-reduced C21 steroids are substrates for human cytochrome P450c17","volume":"418","author":"Gupta","year":"2003","journal-title":"Arch Biochem Biophys"},{"key":"key\n\t\t\t\t2019041113262816500_B37","doi-asserted-by":"crossref","first-page":"655","DOI":"10.7863\/jum.2001.20.6.655","article-title":"Sonographic markers of fetal trisomies: second trimester","volume":"20","author":"Nyberg","year":"2001","journal-title":"J Ultrasound Med"},{"key":"key\n\t\t\t\t2019041113262816500_B38","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1097\/GIM.0b013e3181971ccb","article-title":"Guidelines for the prenatal diagnosis of fetal skeletal dysplasias","volume":"11","author":"Krakow","year":"2009","journal-title":"Genet Med"}],"container-title":["The Journal of Clinical Endocrinology &amp; Metabolism"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/jcem\/article-pdf\/98\/3\/E528\/20288421\/jcemE528.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,7,9]],"date-time":"2019-07-09T02:21:38Z","timestamp":1562638898000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcem\/article\/98\/3\/E528\/2536966"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,3,1]]},"references-count":38,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2013,3,1]]}},"URL":"https:\/\/doi.org\/10.1210\/jc.2012-3449","relation":{},"ISSN":["0021-972X","1945-7197"],"issn-type":[{"value":"0021-972X","type":"print"},{"value":"1945-7197","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,3,1]]}}}