{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T08:17:59Z","timestamp":1790669879782,"version":"4.1.0"},"reference-count":79,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2016,12,29]],"date-time":"2016-12-29T00:00:00Z","timestamp":1482969600000},"content-version":"vor","delay-in-days":28,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","award":["305743\/2011\u20102"],"award-info":[{"award-number":["305743\/2011\u20102"]}],"id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001807","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo","doi-asserted-by":"publisher","award":["05\/04726\u20100, 07\/512156, 10\/51102\u20100, 2013\/02162\u20108, and 2014\/50137\u20105"],"award-info":[{"award-number":["05\/04726\u20100, 07\/512156, 10\/51102\u20100, 2013\/02162\u20108, and 2014\/50137\u20105"]}],"id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Birth Defects Research Pt C"],"published-print":{"date-parts":[[2016,12]]},"abstract":"<jats:p>\n                    Steroidogenic factor 1 (NR5A1, SF\u20101, Ad4BP) is a transcriptional regulator of genes involved in adrenal and gonadal development and function. Mutations in\n                    <jats:italic>NR5A1<\/jats:italic>\n                    have been among the most frequently identified genetic causes of gonadal development disorders and are associated with a wide phenotypic spectrum. In 46,XY individuals, NR5A1\u2010related phenotypes may range from disorders of sex development (DSD) to oligo\/azoospermia, and in 46,XX individuals, from 46,XX ovotesticular and testicular DSD to primary ovarian insufficiency (POI). The most common 46,XY phenotype is atypical or female external genitalia with clitoromegaly, palpable gonads, and absence of M\u00fcllerian derivatives. Notably, an undervirilized external genitalia is frequently seen at birth, while spontaneous virilization may occur later, at puberty. In 46,XX individuals,\n                    <jats:italic>NR5A1<\/jats:italic>\n                    mutations are a rare genetic cause of POI, manifesting as primary or secondary amenorrhea, infertility, hypoestrogenism, and elevated gonadotropin levels. Mothers and sisters of 46,XY DSD patients carrying heterozygous\n                    <jats:italic>NR5A1<\/jats:italic>\n                    mutations may develop POI, and therefore require appropriate counseling. Moreover, the recurrent heterozygous p.Arg92Trp NR5A1 mutation is associated with variable degrees of testis development in 46,XX patients. A clear genotype\u2010phenotype correlation is not seen in patients bearing\n                    <jats:italic>NR5A1<\/jats:italic>\n                    mutations, suggesting that genetic modifiers, such as pathogenic variants in other testis\/ovarian\u2010determining genes, may contribute to the phenotypic expression. Here, we review the published literature on NR5A1\u2010related disease, and discuss our findings at a single tertiary center in Brazil, including ten novel\n                    <jats:italic>NR5A1<\/jats:italic>\n                    mutations identified in 46,XY DSD patients. The ever\u2010expanding phenotypic range associated with\n                    <jats:italic>NR5A1<\/jats:italic>\n                    variants in XY and XX individuals confirms its pivotal role in reproductive biology, and should alert clinicians to the possibility of NR5A1 defects in a variety of phenotypes presenting with gonadal dysfunction. Birth Defects Research (Part C) 108:309\u2013320, 2016. \u00a9 2016 The Authors Birth Defects Research Part C: Embryo Today: Reviews Published by Wiley Periodicals, Inc.\n                  <\/jats:p>","DOI":"10.1002\/bdrc.21145","type":"journal-article","created":{"date-parts":[[2023,9,16]],"date-time":"2023-09-16T02:37:13Z","timestamp":1694831833000},"page":"309-320","source":"Crossref","is-referenced-by-count":94,"title":["Wide spectrum of NR5A1\u2010related phenotypes in 46,XY and 46,XX individuals"],"prefix":"10.1002","volume":"108","author":[{"given":"Sorahia","family":"Domenice","sequence":"first","affiliation":[{"name":"Sorahia Domenice, Aline Zamboni Machado, Bruno Ferraz\u2010de\u2010Souza, Antonio Marcondes Lerario, Mirian Yumie Nishi, Nathalia Lisboa Gomes, Thatiana Evelin da Silva, Rosana Barbosa Silva, Luciana R. Montenegro, Amanda Narciso, Elaine Maria Frade Costa, and Berenice Bilharinho Mendonca are from the Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular (LIM\/42) Unidade de Endocrinologia do Desenvolvimento, Disciplina de Endocrinologia e Metabologia do Hospital das Cl\u00ednicas, Faculdade de Medicina, Universidade de..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aline Zamboni","family":"Machado","sequence":"additional","affiliation":[{"name":"Sorahia Domenice, Aline Zamboni Machado, Bruno Ferraz\u2010de\u2010Souza, Antonio Marcondes Lerario, Mirian Yumie Nishi, Nathalia Lisboa Gomes, Thatiana Evelin da Silva, Rosana Barbosa Silva, Luciana R. Montenegro, Amanda Narciso, Elaine Maria Frade Costa, and Berenice Bilharinho Mendonca are from the Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular (LIM\/42) Unidade de Endocrinologia do Desenvolvimento, Disciplina de Endocrinologia e Metabologia do Hospital das Cl\u00ednicas, Faculdade de Medicina, Universidade de..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frederico Moraes","family":"Ferreira","sequence":"additional","affiliation":[{"name":"Frederico Moraes Ferreira is from the Ci\u00eancias da Sa\u00fade Universidade Santo Amaro, S\u00e3o Paulo, Brasil and Laboratorio de Imunologia, Instituto do Cora\u00e7\u00e3o, Faculdade de Medicina, Universidade de S\u00e3o Paulo S\u00e3o Paulo Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Ferraz\u2010de\u2010Souza","sequence":"additional","affiliation":[{"name":"Sorahia Domenice, Aline Zamboni Machado, Bruno Ferraz\u2010de\u2010Souza, Antonio Marcondes Lerario, Mirian Yumie Nishi, Nathalia Lisboa Gomes, Thatiana Evelin da Silva, Rosana Barbosa Silva, Luciana R. Montenegro, Amanda Narciso, Elaine Maria Frade Costa, and Berenice Bilharinho Mendonca are from the Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular (LIM\/42) Unidade de Endocrinologia do Desenvolvimento, Disciplina de Endocrinologia e Metabologia do Hospital das Cl\u00ednicas, Faculdade de Medicina, Universidade de..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio Marcondes","family":"Lerario","sequence":"additional","affiliation":[{"name":"Sorahia Domenice, Aline Zamboni Machado, Bruno Ferraz\u2010de\u2010Souza, Antonio Marcondes Lerario, Mirian Yumie Nishi, Nathalia Lisboa Gomes, Thatiana Evelin da Silva, Rosana Barbosa Silva, Luciana R. Montenegro, Amanda Narciso, Elaine Maria Frade Costa, and Berenice Bilharinho Mendonca are from the Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular (LIM\/42) Unidade de Endocrinologia do Desenvolvimento, Disciplina de Endocrinologia e Metabologia do Hospital das Cl\u00ednicas, Faculdade de Medicina, Universidade de..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lin","family":"Lin","sequence":"additional","affiliation":[{"name":"Lin Lin and John C. Achermann are form the Genetics &amp; Genomic Medicine University College London (UCL) Great Ormond Street Institute of Child Health, University College London London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mirian Yumie","family":"Nishi","sequence":"additional","affiliation":[{"name":"Sorahia Domenice, Aline Zamboni Machado, Bruno Ferraz\u2010de\u2010Souza, Antonio Marcondes Lerario, Mirian Yumie Nishi, Nathalia Lisboa Gomes, Thatiana Evelin da Silva, Rosana Barbosa Silva, Luciana R. Montenegro, Amanda Narciso, Elaine Maria Frade Costa, and Berenice Bilharinho Mendonca are from the Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular (LIM\/42) Unidade de Endocrinologia do Desenvolvimento, Disciplina de Endocrinologia e Metabologia do Hospital das Cl\u00ednicas, Faculdade de Medicina, Universidade de..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalia Lisboa","family":"Gomes","sequence":"additional","affiliation":[{"name":"Sorahia Domenice, Aline Zamboni Machado, Bruno Ferraz\u2010de\u2010Souza, Antonio Marcondes Lerario, Mirian Yumie Nishi, Nathalia Lisboa Gomes, Thatiana Evelin da Silva, Rosana Barbosa Silva, Luciana R. Montenegro, Amanda Narciso, Elaine Maria Frade Costa, and Berenice Bilharinho Mendonca are from the Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular (LIM\/42) Unidade de Endocrinologia do Desenvolvimento, Disciplina de Endocrinologia e Metabologia do Hospital das Cl\u00ednicas, Faculdade de Medicina, Universidade de..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thatiana Evelin","family":"da Silva","sequence":"additional","affiliation":[{"name":"Sorahia Domenice, Aline Zamboni Machado, Bruno Ferraz\u2010de\u2010Souza, Antonio Marcondes Lerario, Mirian Yumie Nishi, Nathalia Lisboa Gomes, Thatiana Evelin da Silva, Rosana Barbosa Silva, Luciana R. Montenegro, Amanda Narciso, Elaine Maria Frade Costa, and Berenice Bilharinho Mendonca are from the Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular (LIM\/42) Unidade de Endocrinologia do Desenvolvimento, Disciplina de Endocrinologia e Metabologia do Hospital das Cl\u00ednicas, Faculdade de Medicina, Universidade de..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosana Barbosa","family":"Silva","sequence":"additional","affiliation":[{"name":"Sorahia Domenice, Aline Zamboni Machado, Bruno Ferraz\u2010de\u2010Souza, Antonio Marcondes Lerario, Mirian Yumie Nishi, Nathalia Lisboa Gomes, Thatiana Evelin da Silva, Rosana Barbosa Silva, Luciana R. Montenegro, Amanda Narciso, Elaine Maria Frade Costa, and Berenice Bilharinho Mendonca are from the Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular (LIM\/42) Unidade de Endocrinologia do Desenvolvimento, Disciplina de Endocrinologia e Metabologia do Hospital das Cl\u00ednicas, Faculdade de Medicina, Universidade de..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rafaela Vieira","family":"Correa","sequence":"additional","affiliation":[{"name":"Rafaela V. Correa is from the N\u00facleo de Aten\u00e7\u00e3o M\u00e9dica Integrada (NAMI) Universidade de Fortaleza Cear\u00e1 Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luciana Ribeiro","family":"Montenegro","sequence":"additional","affiliation":[{"name":"Sorahia Domenice, Aline Zamboni Machado, Bruno Ferraz\u2010de\u2010Souza, Antonio Marcondes Lerario, Mirian Yumie Nishi, Nathalia Lisboa Gomes, Thatiana Evelin da Silva, Rosana Barbosa Silva, Luciana R. Montenegro, Amanda Narciso, Elaine Maria Frade Costa, and Berenice Bilharinho Mendonca are from the Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular (LIM\/42) Unidade de Endocrinologia do Desenvolvimento, Disciplina de Endocrinologia e Metabologia do Hospital das Cl\u00ednicas, Faculdade de Medicina, Universidade de..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amanda","family":"Narciso","sequence":"additional","affiliation":[{"name":"Sorahia Domenice, Aline Zamboni Machado, Bruno Ferraz\u2010de\u2010Souza, Antonio Marcondes Lerario, Mirian Yumie Nishi, Nathalia Lisboa Gomes, Thatiana Evelin da Silva, Rosana Barbosa Silva, Luciana R. Montenegro, Amanda Narciso, Elaine Maria Frade Costa, and Berenice Bilharinho Mendonca are from the Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular (LIM\/42) Unidade de Endocrinologia do Desenvolvimento, Disciplina de Endocrinologia e Metabologia do Hospital das Cl\u00ednicas, Faculdade de Medicina, Universidade de..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine Maria Frade","family":"Costa","sequence":"additional","affiliation":[{"name":"Sorahia Domenice, Aline Zamboni Machado, Bruno Ferraz\u2010de\u2010Souza, Antonio Marcondes Lerario, Mirian Yumie Nishi, Nathalia Lisboa Gomes, Thatiana Evelin da Silva, Rosana Barbosa Silva, Luciana R. Montenegro, Amanda Narciso, Elaine Maria Frade Costa, and Berenice Bilharinho Mendonca are from the Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular (LIM\/42) Unidade de Endocrinologia do Desenvolvimento, Disciplina de Endocrinologia e Metabologia do Hospital das Cl\u00ednicas, Faculdade de Medicina, Universidade de..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John C","family":"Achermann","sequence":"additional","affiliation":[{"name":"Lin Lin and John C. 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