{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T17:42:43Z","timestamp":1789753363521,"version":"4.0.1"},"reference-count":30,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2018,6,1]],"date-time":"2018-06-01T00:00:00Z","timestamp":1527811200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2018,6,1]],"date-time":"2018-06-01T00:00:00Z","timestamp":1527811200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,5,27]],"date-time":"2022-05-27T00:00:00Z","timestamp":1653609600000},"content-version":"vor","delay-in-days":1456,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","fertstert.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Fertility and Sterility"],"published-print":{"date-parts":[[2018,6]]},"DOI":"10.1016\/j.fertnstert.2018.02.123","type":"journal-article","created":{"date-parts":[[2018,6,20]],"date-time":"2018-06-20T05:41:25Z","timestamp":1529473285000},"page":"1105-1113","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":17,"title":["Mutational and functional studies on NR5A1 gene in 46,XY disorders of sex development: identification of six novel loss of function mutations"],"prefix":"10.1016","volume":"109","author":[{"given":"Maria Santa","family":"Rocca","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rita","family":"Ortolano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soara","family":"Menab\u00f2","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federico","family":"Baronio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Cassio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gianni","family":"Russo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Balsamo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0391-6570","authenticated-orcid":false,"given":"Alberto","family":"Ferlin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lilia","family":"Baldazzi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.fertnstert.2018.02.123_bib1","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1016\/0092-8674(94)90211-9","article-title":"A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation","volume":"77","author":"Luo","year":"1994","journal-title":"Cell"},{"key":"10.1016\/j.fertnstert.2018.02.123_bib2","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1016\/j.mce.2009.07.003","article-title":"Molecular aspects of steroidogenic factor 1 (SF1)","volume":"315","author":"Hoivik","year":"2010","journal-title":"Mol Cell Endocrinol"},{"key":"10.1016\/j.fertnstert.2018.02.123_bib3","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1210\/me.2007-0508","article-title":"Structure of SF-1 bound by different phospholipids: evidence for regulatory ligands","volume":"23","author":"Sablin","year":"2009","journal-title":"Mol Endocrinol"},{"key":"10.1016\/j.fertnstert.2018.02.123_bib4","doi-asserted-by":"crossref","first-page":"4561","DOI":"10.1242\/dev.087247","article-title":"In\u00a0vivo evidence for the crucial role of SF1 in steroid-producing cells of the testis, ovary and adrenal gland","volume":"139","author":"Buaas","year":"2012","journal-title":"Development"},{"key":"10.1016\/j.fertnstert.2018.02.123_bib5","doi-asserted-by":"crossref","first-page":"930","DOI":"10.1038\/nature06944","article-title":"Sex determination involves synergistic action of SRY and SF1 on a specific Sox9 enhancer","volume":"453","author":"Sekido","year":"2008","journal-title":"Nature"},{"key":"10.1016\/j.fertnstert.2018.02.123_bib6","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1159\/000342221","article-title":"Genetic control of testis development","volume":"7","author":"Sekido","year":"2013","journal-title":"Sex Dev"},{"key":"10.1016\/j.fertnstert.2018.02.123_bib7","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1038\/9629","article-title":"A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans","volume":"22","author":"Achermann","year":"1999","journal-title":"Nat Genet"},{"key":"10.1016\/j.fertnstert.2018.02.123_bib8","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1002\/humu.20588","article-title":"Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency","volume":"29","author":"K\u00f6hler","year":"2008","journal-title":"Hum Mutat"},{"key":"10.1016\/j.fertnstert.2018.02.123_bib9","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1530\/EJE-09-0067","article-title":"The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency","volume":"161","author":"K\u00f6hler","year":"2009","journal-title":"Eur J Endocrinol"},{"key":"10.1016\/j.fertnstert.2018.02.123_bib10","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1016\/j.beem.2015.07.004","article-title":"DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease","volume":"29","author":"Suntharalingham","year":"2015","journal-title":"Best Pract Res Clin Endocrinol Metab"},{"key":"10.1016\/j.fertnstert.2018.02.123_bib11","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1159\/000442309","article-title":"Novel insights into 46,XY disorders of sex development due to NR5A1 gene mutation","volume":"9","author":"Werner","year":"2015","journal-title":"Sex Dev"},{"key":"10.1016\/j.fertnstert.2018.02.123_bib12","doi-asserted-by":"crossref","first-page":"2868","DOI":"10.1210\/jc.2007-0024","article-title":"Heterozygous mutation of steroidogenic factor-1 in 46,XY subjects may mimic partial androgen insensitivity syndrome","volume":"92","author":"Coutant","year":"2007","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.fertnstert.2018.02.123_bib13","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1016\/j.ajhg.2010.09.009","article-title":"Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1","volume":"87","author":"Bashamboo","year":"2010","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.fertnstert.2018.02.123_bib14","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1016\/j.fertnstert.2015.04.017","article-title":"Mutational screening of NR5A1 gene encoding steroidogenic factor 1 (SF-1) in cryptorchidism and male factor infertility and functional analysis of seven undescribed mutations","volume":"104","author":"Ferlin","year":"2015","journal-title":"Fertil Steril"},{"key":"10.1016\/j.fertnstert.2018.02.123_bib15","doi-asserted-by":"crossref","first-page":"1012","DOI":"10.1038\/ejhg.2012.290","article-title":"Comprehensive sequence analysis of the NR5A1 gene encoding steroidogenic factor 1 in a large group of infertile males","volume":"21","author":"R\u00f6pke","year":"2013","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.fertnstert.2018.02.123_bib16","doi-asserted-by":"crossref","first-page":"1200","DOI":"10.1056\/NEJMoa0806228","article-title":"Mutations in NR5A1 associated with ovarian insufficiency","volume":"360","author":"Lourenco","year":"2009","journal-title":"N Engl J Med"},{"key":"10.1016\/j.fertnstert.2018.02.123_bib17","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1159\/000320029","article-title":"Three new SF-1 (NR5A1) gene mutations in two unrelated families with multiple affected members: within-family variability in 46,XY subjects and low ovarian reserve in fertile 46,XX subjects","volume":"75","author":"Warman","year":"2011","journal-title":"Horm Res Paediatr"},{"key":"10.1016\/j.fertnstert.2018.02.123_bib18","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1038\/gim.2016.118","article-title":"NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development","volume":"19","author":"Baetens","year":"2017","journal-title":"Genet Med"},{"key":"10.1016\/j.fertnstert.2018.02.123_bib19","doi-asserted-by":"crossref","first-page":"5286","DOI":"10.1093\/hmg\/ddw186","article-title":"A\u00a0recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development","volume":"25","author":"Bashamboo","year":"2016","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.fertnstert.2018.02.123_bib20","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1002\/humu.23116","article-title":"Identical NR5A1 missense mutations in two unrelated 46,XX individuals with testicular tissues","volume":"38","author":"Igarashi","year":"2017","journal-title":"Hum Mutat"},{"key":"10.1016\/j.fertnstert.2018.02.123_bib21","doi-asserted-by":"crossref","first-page":"1829","DOI":"10.1210\/jcem.87.4.8376","article-title":"Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor 1 in a dose-dependent manner","volume":"87","author":"Achermann","year":"2002","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.fertnstert.2018.02.123_bib22","doi-asserted-by":"crossref","first-page":"1788.e5","DOI":"10.1016\/j.fertnstert.2010.11.035","article-title":"Predominant Sertoli cell deficiency in a 46,XY disorders of sex development patient with a new NR5A1\/SF-1 mutation transmitted by unaffected father","volume":"95","author":"Philibert","year":"2011","journal-title":"Fertil Steril"},{"key":"10.1016\/j.fertnstert.2018.02.123_bib23","doi-asserted-by":"crossref","first-page":"1503","DOI":"10.1210\/jc.2013-3690","article-title":"Disorders of sex development (DSDs): an update","volume":"99","author":"Ostrer","year":"2014","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.fertnstert.2018.02.123_bib24","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1159\/000442975","article-title":"Global disorders of sex development update since 2006: perceptions, approach and care","volume":"85","author":"Lee","year":"2016","journal-title":"Horm Res Paediatr"},{"key":"10.1016\/j.fertnstert.2018.02.123_bib25","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1007\/s00428-013-1522-1","article-title":"Testicular cancer: biology and biomarkers","volume":"464","author":"Loojienga","year":"2014","journal-title":"Virchows Arch"},{"key":"10.1016\/j.fertnstert.2018.02.123_bib26","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1159\/000338346","article-title":"Preserved fertility in a patient with a 46,XY disorder of sex development due to a new heterozygous mutation in the NR5A1\/SF-1 gene: evidence of 46,XY and 46,XX gonadal dysgenesis phenotype variability in multiple members of an affected kindred","volume":"78","author":"Ciaccio","year":"2012","journal-title":"Horm Res Paediatr"},{"key":"10.1016\/j.fertnstert.2018.02.123_bib27","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1530\/EJE-11-0944","article-title":"Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations","volume":"167","author":"Tantawy","year":"2012","journal-title":"Eur J Endocrinol"},{"key":"10.1016\/j.fertnstert.2018.02.123_bib28","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1046\/j.1464-410x.2000.00354.x","article-title":"Clinical features and gender assignment in cases of male undermasculinisation: the role for a masculinisation score","volume":"85","author":"Ahmed","year":"2000","journal-title":"BJU Int"},{"key":"10.1016\/j.fertnstert.2018.02.123_bib29","doi-asserted-by":"crossref","first-page":"e0176720","DOI":"10.1371\/journal.pone.0176720","article-title":"New NR5A1 mutations and phenotypic variations of gonadal dysgenesis","volume":"12","author":"Werner","year":"2017","journal-title":"PLoS One"},{"key":"10.1016\/j.fertnstert.2018.02.123_bib30","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1007\/978-1-4419-8002-1_16","article-title":"Phenotypic variations of SF1 gene mutations","volume":"707","author":"Philibert","year":"2011","journal-title":"Adv Exp Med Biol"}],"container-title":["Fertility and Sterility"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0015028218301997?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0015028218301997?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,12,29]],"date-time":"2025-12-29T17:30:23Z","timestamp":1767029423000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0015028218301997"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,6]]},"references-count":30,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2018,6]]}},"alternative-id":["S0015028218301997"],"URL":"https:\/\/doi.org\/10.1016\/j.fertnstert.2018.02.123","relation":{},"ISSN":["0015-0282"],"issn-type":[{"value":"0015-0282","type":"print"}],"subject":[],"published":{"date-parts":[[2018,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Mutational and functional studies on NR5A1 gene in 46,XY disorders of sex development: identification of six novel loss of function mutations","name":"articletitle","label":"Article Title"},{"value":"Fertility and Sterility","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.fertnstert.2018.02.123","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a92018 American Society for Reproductive Medicine, Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}