{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T06:36:37Z","timestamp":1762497397050,"version":"build-2065373602"},"reference-count":16,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2021,3,1]],"date-time":"2021-03-01T00:00:00Z","timestamp":1614556800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,3,1]],"date-time":"2021-03-01T00:00:00Z","timestamp":1614556800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2020,12,6]],"date-time":"2020-12-06T00:00:00Z","timestamp":1607212800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["aaceclinicalcasereports.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["AACE Clinical Case Reports"],"published-print":{"date-parts":[[2021,3]]},"DOI":"10.1016\/j.aace.2020.12.001","type":"journal-article","created":{"date-parts":[[2020,12,31]],"date-time":"2020-12-31T14:01:01Z","timestamp":1609423261000},"page":"145-148","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":1,"title":["Different Clinical Manifestations Related to Subvirilization in Three XY\u00a0Patients With the Same Pathogenic Variant of Steroidogenic Factor\u00a01"],"prefix":"10.1016","volume":"7","author":[{"given":"Maria Fernanda","family":"Ochoa","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francisca","family":"Yankovic","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Helena","family":"Poggi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alejandro","family":"Martinez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.aace.2020.12.001_bib1","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1038\/9629","article-title":"A\u00a0mutation 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.aace.2020.12.001_bib2","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\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.aace.2020.12.001_bib3","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1159\/000152036","article-title":"Steroidogenic factor-1 (SF-1, Ad4BP, NR5A1) and disorders of testis development","volume":"2","author":"Lin","year":"2008","journal-title":"Sex Dev"},{"key":"10.1016\/j.aace.2020.12.001_bib4","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1002\/bdrc.21145","article-title":"Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals","volume":"108","author":"Domenice","year":"2016","journal-title":"Birth Defects Res C Embryo Today"},{"key":"10.1016\/j.aace.2020.12.001_bib5","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1186\/s13059-016-1105-y","article-title":"Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort","volume":"17","author":"Eggers","year":"2016","journal-title":"Genome Biol"},{"key":"10.1016\/j.aace.2020.12.001_bib6","doi-asserted-by":"crossref","first-page":"1861","DOI":"10.1002\/humu.23603","article-title":"Mutant NR5A1\/SF-1 in patients with disorders of sex development shows defective activation of the SOX9 TESCO enhancer","volume":"39","author":"Sreenivasan","year":"2018","journal-title":"Hum Mutat"},{"key":"10.1016\/j.aace.2020.12.001_bib7","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1016\/j.mce.2010.11.006","article-title":"Steroidogenic factor-1 (SF-1, NR5A1) and human disease","volume":"336","author":"Ferraz-de-Souza","year":"2011","journal-title":"Mol Cell Endocrinol"},{"key":"10.1016\/j.aace.2020.12.001_bib8","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1046\/j.1464-410x.2000.00354.x","article-title":"The role of a clinical score in the assessment of ambiguous genitalia","volume":"85","author":"Ahmed","year":"2000","journal-title":"BJU Int"},{"key":"10.1016\/j.aace.2020.12.001_bib9","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"10.1016\/j.aace.2020.12.001_bib10","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.aace.2020.12.001_bib11","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1002\/humu.23354","article-title":"Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development","volume":"39","author":"Robevska","year":"2018","journal-title":"Hum Mutat"},{"key":"10.1016\/j.aace.2020.12.001_bib12","doi-asserted-by":"crossref","first-page":"2938","DOI":"10.1002\/ajmg.a.36729","article-title":"Longitudinal hormonal evaluation in a patient with disorder of sexual development, 46,XY karyotype and one NR5A1 mutation","volume":"164A","author":"Pedace","year":"2014","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.aace.2020.12.001_bib13","doi-asserted-by":"crossref","first-page":"1329","DOI":"10.1038\/s41431-018-0202-7","article-title":"Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin?","volume":"26","author":"Camats","year":"2018","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.aace.2020.12.001_bib14","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1002\/humu.10212","article-title":"Human gene mutation database (HGMD): 2003 update","volume":"21","author":"Stenson","year":"2003","journal-title":"Hum Mutat"},{"key":"10.1016\/j.aace.2020.12.001_bib15","doi-asserted-by":"crossref","first-page":"D1062","DOI":"10.1093\/nar\/gkx1153","article-title":"ClinVar: improving access to variant interpretations and supporting evidence","volume":"46","author":"Landrum","year":"2018","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.aace.2020.12.001_bib16","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1016\/j.maturitas.2019.10.011","article-title":"Analysis of NR5A1 in 142 patients with premature ovarian insufficiency, diminished ovarian reserve, or unexplained infertility","volume":"131","author":"Jaillard","year":"2020","journal-title":"Maturitas"}],"container-title":["AACE Clinical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2376060520310488?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2376060520310488?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T06:31:46Z","timestamp":1762497106000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2376060520310488"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,3]]},"references-count":16,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2021,3]]}},"alternative-id":["S2376060520310488"],"URL":"https:\/\/doi.org\/10.1016\/j.aace.2020.12.001","relation":{},"ISSN":["2376-0605"],"issn-type":[{"type":"print","value":"2376-0605"}],"subject":[],"published":{"date-parts":[[2021,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Different Clinical Manifestations Related to Subvirilization in Three XY\u00a0Patients With the Same Pathogenic Variant of Steroidogenic Factor\u00a01","name":"articletitle","label":"Article Title"},{"value":"AACE Clinical Case Reports","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.aace.2020.12.001","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 AACE. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}