{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T01:04:44Z","timestamp":1789866284275,"version":"4.0.1"},"reference-count":20,"publisher":"Elsevier BV","issue":"10","license":[{"start":{"date-parts":[[2014,10,1]],"date-time":"2014-10-01T00:00:00Z","timestamp":1412121600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2014,10,1]],"date-time":"2014-10-01T00:00:00Z","timestamp":1412121600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["aacejournalendocrinepractice.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Endocrine Practice"],"published-print":{"date-parts":[[2014,10]]},"DOI":"10.4158\/ep14179.cr","type":"journal-article","created":{"date-parts":[[2014,8,12]],"date-time":"2014-08-12T21:59:07Z","timestamp":1407880747000},"page":"e191-e197","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":22,"title":["Divergent Gender Identity in Three Siblings With 46Xx Karyotype and Severely Virilizing Congenital Adrenal Hyperplasia Caused by A Novel Cyp11B1 Mutation"],"prefix":"10.1016","volume":"20","author":[{"given":"Bassam","family":"Bin-Abbas","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Doha","family":"Al-Humaida","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Afaf","family":"Al-Sagheir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ebtesam","family":"Qasem","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mai","family":"Almohanna","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ali S.","family":"Alzahrani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.4158\/EP14179.CR_bb0005","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1046\/j.0300-0664.2001.01463.x","article-title":"Complete virilization in congenital adrenal hyperplasia: clinical course, medical management and disease-related complications","volume":"56","author":"Woelfle","year":"2002","journal-title":"Clin Endocrinol (Oxf)"},{"key":"10.4158\/EP14179.CR_bb0010","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1515\/JPEM.2005.18.2.125","article-title":"46,XX patients with congenital adrenal hyperplasia: initial assignment as male, reassigned female","volume":"18","author":"Lee","year":"2005","journal-title":"J Pediatr Endocrinol Metab."},{"key":"10.4158\/EP14179.CR_bb0015","doi-asserted-by":"crossref","first-page":"982025","DOI":"10.1186\/1687-9856-2010-982025","article-title":"Review of outcome information in 46,XX patients with congenital adrenal hyperplasia assigned\/reared male: what does it say about gender assignment?","volume":"2010","author":"Lee","year":"2010","journal-title":"Int J Pediatr Endocrinol."},{"key":"10.4158\/EP14179.CR_bb0020","first-page":"270","article-title":"Novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11b-hydroxylase deficiency","volume":"83","author":"Merke","year":"1998","journal-title":"J Clin Endocrinol Metab."},{"key":"10.4158\/EP14179.CR_bb0025","doi-asserted-by":"crossref","first-page":"1930","DOI":"10.1016\/j.juro.2012.07.018","article-title":"Gender identity and gender role orientation in female assigned patients with disorders of sex development","volume":"188","author":"Mattila","year":"2012","journal-title":"J Urol."},{"key":"10.4158\/EP14179.CR_bb0030","doi-asserted-by":"crossref","first-page":"1844","DOI":"10.1210\/jcem.84.6.5718","article-title":"What causes low rates of child-bearing in congenital adrenal hyperplasia?","volume":"84","author":"Meyer-Bahlburg","year":"1999","journal-title":"J Clin Endocrinol Metab."},{"key":"10.4158\/EP14179.CR_bb0035","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1016\/0306-4530(92)90054-B","article-title":"Sexual behavior in adolescent and adult females with congenital adrenal hyperplasia","volume":"17","author":"Dittmann","year":"1992","journal-title":"Psychoneuroendocrinology."},{"key":"10.4158\/EP14179.CR_bb0040","doi-asserted-by":"crossref","first-page":"277","DOI":"10.4103\/0974-7796.120308","article-title":"Long-term outcome of genital reconstruction of Middle Eastern women with congenital adrenal hyperplasia","volume":"5","author":"Seyam","year":"2013","journal-title":"Urol Ann."},{"key":"10.4158\/EP14179.CR_bb0045","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1353\/pbm.2002.0011","article-title":"The impact of culture on sex assignment and gender development in intersex patients","volume":"45","author":"Kuhnle","year":"2002","journal-title":"Perspect Biol Med."},{"key":"10.4158\/EP14179.CR_bb0050","doi-asserted-by":"crossref","first-page":"298","DOI":"10.1001\/archpedi.1997.02170400084015","article-title":"Sex reassignment at birth. Long-term review and clinical implications","volume":"151","author":"Diamond","year":"1997","journal-title":"Arch Pediatr Adolesc Med."},{"key":"10.4158\/EP14179.CR_bb0055","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1007\/s10508-007-9265-1","article-title":"Sexual orientation in women with classical or non-classical congenital adrenal hyperplasia as a function of degree of prenatal androgen excess","volume":"37","author":"Meyer-Bahlburg","year":"2008","journal-title":"Arch Sex Behav."},{"key":"10.4158\/EP14179.CR_bb0060","doi-asserted-by":"crossref","first-page":"4552","DOI":"10.1073\/pnas.90.10.4552","article-title":"Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7, and 8","volume":"90","author":"Curnow","year":"1993","journal-title":"Proc Natl Acad Sci U S A."},{"key":"10.4158\/EP14179.CR_bb0065","first-page":"281","article-title":"Congenital adrenal hyperplasia due to 11-hydroxylase deficiency--insights from two novel CYP11B1 mutations (p.M92X, p.R453Q)","volume":"72","author":"Krone","year":"2009","journal-title":"Horm Res."},{"key":"10.4158\/EP14179.CR_bb0070","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1093\/hmg\/3.2.377","article-title":"Steroid 11 beta-hydroxylase deficiency caused by a five base pair duplication in the CYP11B1 gene","volume":"3","author":"Skinner","year":"1994","journal-title":"Hum Mol Genet."},{"key":"10.4158\/EP14179.CR_bb0075","doi-asserted-by":"crossref","first-page":"514","DOI":"10.1016\/j.ygcen.2011.12.017","article-title":"Two novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11beta hydroxylase deficiency in a Tunisian family","volume":"175","author":"Ben Charfeddine","year":"2012","journal-title":"Gen Comp Endocrinol."},{"key":"10.4158\/EP14179.CR_bb0080","first-page":"1278","article-title":"Frame shift by insertion of 2 basepairs in codon 394 of CYP11B1 causes congenital adrenal hyperplasia due to steroid 11 beta-hydroxylase deficiency","volume":"75","author":"Helmberg","year":"1992","journal-title":"J Clin Endocrinol Metab."},{"key":"10.4158\/EP14179.CR_bb0085","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1007\/s12020-012-9861-2","article-title":"Two novel mutations in CYP11B1 and modeling the consequent alterations of the translated protein in classic congenital adrenal hyperplasia patients","volume":"44","author":"Abbaszadegan","year":"2013","journal-title":"Endocrine."},{"key":"10.4158\/EP14179.CR_bb0090","doi-asserted-by":"crossref","first-page":"3481","DOI":"10.1210\/jc.2008-2521","article-title":"Novel mutations in CYP11B1 gene leading to 11 beta-hydroxylase deficiency in Brazilian patients","volume":"94","author":"Soardi","year":"2009","journal-title":"J Clin Endocrinol Metab."},{"key":"10.4158\/EP14179.CR_bb0095","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1016\/j.jsbmb.2012.08.011","article-title":"A prevalent and three novel mutations in CYP11B1 gene identified in Chinese patients with 11-beta hydroxylase deficiency","volume":"133","author":"Zhang","year":"2013","journal-title":"J Steroid Biochem Mol Biol."},{"key":"10.4158\/EP14179.CR_bb0100","first-page":"2896","article-title":"CYP11B1 mutations causing congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency","volume":"81","author":"Geley","year":"1996","journal-title":"J Clin Endocrinol Metab."}],"container-title":["Endocrine Practice"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1530891X20421147?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1530891X20421147?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/aace.metapress.com\/index\/KJ06951483148878.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T21:58:21Z","timestamp":1761515901000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1530891X20421147"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,10]]},"references-count":20,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2014,10]]}},"alternative-id":["S1530891X20421147"],"URL":"https:\/\/doi.org\/10.4158\/ep14179.cr","relation":{},"ISSN":["1530-891X"],"issn-type":[{"value":"1530-891X","type":"print"}],"subject":[],"published":{"date-parts":[[2014,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Divergent Gender Identity in Three Siblings With 46Xx Karyotype and Severely Virilizing Congenital Adrenal Hyperplasia Caused by A Novel Cyp11B1 Mutation","name":"articletitle","label":"Article Title"},{"value":"Endocrine Practice","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.4158\/EP14179.CR","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2014 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}