{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T15:38:18Z","timestamp":1791041898887,"version":"4.1.0"},"reference-count":40,"publisher":"The Endocrine Society","issue":"12","funder":[{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","award":["305743\/2011-2"],"award-info":[{"award-number":["305743\/2011-2"]}],"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\/04726-0"],"award-info":[{"award-number":["05\/04726-0"]}],"id":[{"id":"10.13039\/501100001807","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":["07\/512156"],"award-info":[{"award-number":["07\/512156"]}],"id":[{"id":"10.13039\/501100001807","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":["10\/51102-0"],"award-info":[{"award-number":["10\/51102-0"]}],"id":[{"id":"10.13039\/501100001807","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":["2013\/02162-8"],"award-info":[{"award-number":["2013\/02162-8"]}],"id":[{"id":"10.13039\/501100001807","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":["2014\/50137-5"],"award-info":[{"award-number":["2014\/50137-5"]}],"id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Coordena\u00e7\u00e3o de Aperfei\u00e7oamento de Pessoal de N\u00ecvel Superior","award":["33002010062P5"],"award-info":[{"award-number":["33002010062P5"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,12,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Context<\/jats:title><jats:p>46,XY Gonadal dysgenesis (GD) is a heterogeneous group of disorders with a wide phenotypic spectrum, including embryonic testicular regression syndrome (ETRS).<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>To report a gene for 46,XY GD etiology, especially for ETRS.<\/jats:p><\/jats:sec><jats:sec><jats:title>Design<\/jats:title><jats:p>Screening of familial cases of 46,XY GD using whole-exome sequencing and sporadic cases by target gene-panel sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Setting<\/jats:title><jats:p>Tertiary Referral Center for differences\/disorders of sex development (DSD).<\/jats:p><\/jats:sec><jats:sec><jats:title>Patients and Interventions<\/jats:title><jats:p>We selected 87 patients with 46,XY DSD (17 familial cases from 8 unrelated families and 70 sporadic cases); 55 patients had GD (among them, 10 patients from 5 families and 8 sporadic cases had ETRS), and 32 patients had 46,XY DSD of unknown etiology.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified four heterozygous missense rare variants, classified as pathogenic or likely pathogenic in the Asp-Glu-Ala-His-box (DHX) helicase 37 (DHX37) gene in five families (n = 11 patients) and in six sporadic cases. Two variants were recurrent: p.Arg308Gln (in two families and in three sporadic cases) and p.Arg674Trp (in two families and in two sporadic cases). The variants were specifically associated with ETRS (7\/14 index cases; 50%). The frequency of rare, predicted-to-be-deleterious DHX37 variants in this cohort (14%) is significantly higher than that observed in the Genome Aggregation Database (0.4%; P &amp;lt; 0.001). Immunohistochemistry analysis in human testis showed that DHX37 is mainly expressed in germ cells at different stages of testis maturation, in Leydig cells, and rarely in Sertoli cells.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This strong genetic evidence identifies DHX37 as a player in the complex cascade of male gonadal differentiation and maintenance.<\/jats:p><\/jats:sec>","DOI":"10.1210\/jc.2019-00984","type":"journal-article","created":{"date-parts":[[2019,7,16]],"date-time":"2019-07-16T13:56:03Z","timestamp":1563285363000},"page":"5923-5934","source":"Crossref","is-referenced-by-count":40,"title":["Genetic Evidence of the Association of DEAH-Box Helicase 37 Defects With 46,XY Gonadal Dysgenesis Spectrum"],"prefix":"10.1210","volume":"104","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7071-0225","authenticated-orcid":false,"given":"Thatiana Evilen","family":"da Silva","sequence":"first","affiliation":[{"name":"Unidade de Endocrinologia do Desenvolvimento, Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular (LIM\/42) da Disciplina de Endocrinologia e Metabologia do Hospital das Cl\u00ednicas da Faculdade de Medicina, Universidade de S\u00e3o Paulo, S\u00e3o Paulo, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1072-7903","authenticated-orcid":false,"given":"Nathalia Lisboa","family":"Gomes","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia do Desenvolvimento, Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular (LIM\/42) da Disciplina de Endocrinologia e Metabologia do Hospital das Cl\u00ednicas da Faculdade de Medicina, Universidade de S\u00e3o Paulo, S\u00e3o Paulo, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8336-6432","authenticated-orcid":false,"given":"Antonio Marcondes","family":"Ler\u00e1rio","sequence":"additional","affiliation":[{"name":"Laborat\u00f3rio de Sequenciamento em Larga Escala, Faculdade de Medicina, Universidade de S\u00e3o Paulo, S\u00e3o Paulo, Brazil"},{"name":"Division of Metabolism, Endocrinology and Diabetes, Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7780-6542","authenticated-orcid":false,"given":"Catherine Elizabeth","family":"Keegan","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics, University of Michigan Medical School, Ann Arbor, Michigan"},{"name":"Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6603-3188","authenticated-orcid":false,"given":"Mirian Yumi","family":"Nishi","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia do Desenvolvimento, Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular (LIM\/42) da Disciplina de Endocrinologia e Metabologia do Hospital das Cl\u00ednicas da Faculdade de Medicina, Universidade de S\u00e3o Paulo, S\u00e3o Paulo, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5838-3636","authenticated-orcid":false,"given":"Filomena Marino","family":"Carvalho","sequence":"additional","affiliation":[{"name":"Departamento de Patologia, Faculdade de Medicina, Universidade de S\u00e3o Paulo, S\u00e3o Paulo, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5557-3709","authenticated-orcid":false,"given":"Eric","family":"Vilain","sequence":"additional","affiliation":[{"name":"Center for Genetic Medicine Research, The Children\u2019s Research Institute, Children\u2019s National Medical Center, Children\u2019s National Health System, Washington, DC"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hayk","family":"Barseghyan","sequence":"additional","affiliation":[{"name":"Center for Genetic Medicine Research, The Children\u2019s Research Institute, Children\u2019s National Medical Center, Children\u2019s National Health System, Washington, DC"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1677-3513","authenticated-orcid":false,"given":"Alejandro","family":"Martinez-Aguayo","sequence":"additional","affiliation":[{"name":"Division de Pediatria, Escuela de Medicina, Pontificia Universidad Catolica de Chile, Santiago, Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda Ver\u00f3nica","family":"Forclaz","sequence":"additional","affiliation":[{"name":"Servicio de Pediatr\u00eda, Hospital Nacional Prof. Dr. A. Posadas, Buenos Aires, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Regina","family":"Papazian","sequence":"additional","affiliation":[{"name":"Servicio de Pediatr\u00eda, Hospital Nacional Prof. Dr. A. Posadas, Buenos Aires, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leila Cristina","family":"Pedroso de Paula","sequence":"additional","affiliation":[{"name":"Programa de Atendimento \u00e0s Desordens do Desenvolvimento Sexual, Hospital de Cl\u00ednicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eduardo Corr\u00eaa","family":"Costa","sequence":"additional","affiliation":[{"name":"Programa de Atendimento \u00e0s Desordens do Desenvolvimento Sexual, Hospital de Cl\u00ednicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7313-2130","authenticated-orcid":false,"given":"Luciani Renata","family":"Carvalho","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia do Desenvolvimento, Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular (LIM\/42) da Disciplina de Endocrinologia e Metabologia do Hospital das Cl\u00ednicas da Faculdade de Medicina, Universidade de S\u00e3o Paulo, S\u00e3o Paulo, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2567-7360","authenticated-orcid":false,"given":"Alexander Augusto Lima","family":"Jorge","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia do Desenvolvimento, Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular (LIM\/42) da Disciplina de Endocrinologia e Metabologia do Hospital das Cl\u00ednicas da Faculdade de Medicina, Universidade de S\u00e3o Paulo, S\u00e3o Paulo, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3739-4755","authenticated-orcid":false,"given":"Felipe Martins","family":"Elias","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia do Desenvolvimento, Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular (LIM\/42) da Disciplina de Endocrinologia e Metabologia do Hospital das Cl\u00ednicas da Faculdade de Medicina, Universidade de S\u00e3o Paulo, S\u00e3o Paulo, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4650-3765","authenticated-orcid":false,"given":"Rod","family":"Mitchell","sequence":"additional","affiliation":[{"name":"Medical Research Council Centre for Reproductive Health, Queens Medical Research Institute, Edinburgh, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine Maria Frade","family":"Costa","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia do Desenvolvimento, Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular (LIM\/42) da Disciplina de Endocrinologia e Metabologia do Hospital das Cl\u00ednicas da Faculdade de Medicina, Universidade de S\u00e3o Paulo, S\u00e3o Paulo, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1762-1084","authenticated-orcid":false,"given":"Berenice Bilharinho","family":"Mendonca","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia do Desenvolvimento, Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular (LIM\/42) da Disciplina de Endocrinologia e Metabologia do Hospital das Cl\u00ednicas da Faculdade de Medicina, Universidade de S\u00e3o Paulo, S\u00e3o Paulo, Brazil"},{"name":"Laborat\u00f3rio de Sequenciamento em Larga Escala, Faculdade de Medicina, Universidade de S\u00e3o Paulo, S\u00e3o Paulo, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4883-7630","authenticated-orcid":false,"given":"Sorahia","family":"Domenice","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia do Desenvolvimento, Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular (LIM\/42) da Disciplina de Endocrinologia e Metabologia do Hospital das Cl\u00ednicas da Faculdade de Medicina, Universidade de S\u00e3o Paulo, S\u00e3o Paulo, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2019,7,9]]},"reference":[{"issue":"8","key":"2021122117121629300_bib1","doi-asserted-by":"crossref","first-page":"700","DOI":"10.1016\/S0046-8177(82)80292-X","article-title":"Dysgenesis of testicular and streak gonads in the syndrome of mixed gonadal dysgenesis: perspective derived from a clinicopathologic analysis of twenty-one cases","volume":"13","author":"Robboy","year":"1982","journal-title":"Hum Pathol"},{"issue":"1","key":"2021122117121629300_bib2","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/ajmg.1320490102","article-title":"Embryonic testicular regression sequence: a part of the clinical spectrum of 46,XY gonadal dysgenesis","volume":"49","author":"Marcantonio","year":"1994","journal-title":"Am J Med Genet"},{"issue":"2","key":"2021122117121629300_bib3","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1038\/nrendo.2012.235","article-title":"Disorders of sex development: new genes, new concepts","volume":"9","author":"Ono","year":"2013","journal-title":"Nat Rev Endocrinol"},{"issue":"1","key":"2021122117121629300_bib4","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"},{"issue":"3","key":"2021122117121629300_bib5","first-page":"154","article-title":"Embryonic testicular regression syndrome and severe mental retardation in sibs","volume":"28","author":"de Grouchy","year":"1985","journal-title":"Ann Genet"},{"issue":"2","key":"2021122117121629300_bib6","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1016\/S0022-3476(80)80474-4","article-title":"Embryonic testicular regression syndrome: variable phenotypic expression in siblings","volume":"97","author":"Josso","year":"1980","journal-title":"J Pediatr"},{"issue":"3","key":"2021122117121629300_bib7","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.1093\/nar\/16.3.1215","article-title":"A simple salting out procedure for extracting DNA from human nucleated cells","volume":"16","author":"Miller","year":"1988","journal-title":"Nucleic Acids Res"},{"key":"2021122117121629300_bib8","doi-asserted-by":"crossref","unstructured":"da Silva \u00a0TE, GomesNL, Ler\u00e1rioAM, KeeganCE, NishiMY, CarvalhoFM, VilainE, BarseghyanH, Martinez-AguayoA, ForclazMV, PapazianR, Pedroso de PaulaLC, CostaEC, CarvalhoLR, JorgeAA, EliasFM, MitchellR, CostaEMF, MendoncaBB, DomeniceS. Data from: Genetic evidence of the association of DEAH-box helicase 37 defects with 46,XY gonadal dysgenesis spectrum. ResearchGate 2019. Accessed 11 October 2019. www.researchgate.net\/publication\/332735918_DEAH-box_helicase_37_defects_are_a_novel_cause_of_46XY_gonadal_dysgenesis_spectrum.","DOI":"10.1210\/jc.2019-00984"},{"key":"2021122117121629300_bib9","article-title":"DEAH-box helicase 37 (DHX37) defects are a novel molecular etiology of 46, XY gonadal dysgenesis spectrum [published online ahead of print 24 November 2018]","author":"da Silva","journal-title":"bioRXiv"},{"issue":"5","key":"2021122117121629300_bib10","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"},{"issue":"3","key":"2021122117121629300_bib11","doi-asserted-by":"crossref","first-page":"R53","DOI":"10.1186\/gb-2014-15-3-r53","article-title":"An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge","volume":"15","author":"Brownstein","year":"2014","journal-title":"Genome Biol"},{"issue":"7571","key":"2021122117121629300_bib12","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1038\/nature15393","article-title":"A global reference for human genetic variation","volume":"526","author":"Auton","year":"2015","journal-title":"Nature"},{"issue":"7","key":"2021122117121629300_bib13","doi-asserted-by":"crossref","first-page":"751","DOI":"10.1002\/humu.23220","article-title":"Exomic variants of an elderly cohort of Brazilians in the ABraOM database","volume":"38","author":"Naslavsky","year":"2017","journal-title":"Hum Mutat"},{"issue":"3","key":"2021122117121629300_bib14","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1016\/j.molcel.2007.07.014","article-title":"The long unwinding road of RNA helicases","volume":"27","author":"Bleichert","year":"2007","journal-title":"Mol Cell"},{"issue":"2","key":"2021122117121629300_bib15","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1002\/(SICI)1096-8628(19990521)84:2<116::AID-AJMG6>3.0.CO;2-3","article-title":"De novo deletion 12q: report of a patient with 12q24.31q24.33 deletion","volume":"84","author":"Sathya","year":"1999","journal-title":"Am J Med Genet"},{"issue":"1","key":"2021122117121629300_bib16","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1186\/1755-8166-4-9","article-title":"Chromosome 12q24.31-q24.33 deletion causes multiple dysmorphic features and developmental delay: First mosaic patient and overview of the phenotype related to 12q24qter defects","volume":"4","author":"Al-Zahrani","year":"2011","journal-title":"Mol Cytogenet"},{"issue":"2","key":"2021122117121629300_bib17","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1002\/ajmg.1320290228","article-title":"Ring chromosome 12","volume":"29","author":"Park","year":"1988","journal-title":"Am J Med Genet"},{"issue":"5501","key":"2021122117121629300_bib18","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1126\/science.291.5501.121","article-title":"Active disruption of an RNA-protein interaction by a DExH\/D RNA helicase","volume":"291","author":"Jankowsky","year":"2001","journal-title":"Science"},{"issue":"1","key":"2021122117121629300_bib19","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1016\/j.ajhg.2017.12.016","article-title":"De novo missense mutations in DHX30 impair global translation and cause a neurodevelopmental disorder [published correction appears in Am J Hum Genet. 2018;102(1):196]","volume":"102","author":"Lessel","year":"2018","journal-title":"Am J Hum Genet"},{"issue":"1","key":"2021122117121629300_bib20","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1080\/15476286.2018.1556149","article-title":"The human RNA helicase DHX37 is required for release of the U3 snoRNP from pre-ribosomal particles","volume":"16","author":"Choudhury","year":"2019","journal-title":"RNA Biol"},{"issue":"6363","key":"2021122117121629300_bib21","doi-asserted-by":"crossref","first-page":"eaan2755","DOI":"10.1126\/science.aan2755","article-title":"Ribosomopathies: there\u2019s strength in numbers","volume":"358","author":"Mills","year":"2017","journal-title":"Science"},{"issue":"37","key":"2021122117121629300_bib22","doi-asserted-by":"crossref","first-page":"14638","DOI":"10.1523\/JNEUROSCI.1157-13.2013","article-title":"Defective escape behavior in DEAH-box RNA helicase mutants improved by restoring glycine receptor expression","volume":"33","author":"Hirata","year":"2013","journal-title":"J Neurosci"},{"key":"2021122117121629300_bib23","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1016\/j.cbd.2017.02.008","article-title":"DExD\/H-box RNA helicase genes are differentially expressed between males and females during the critical period of male sex differentiation in channel catfish","volume":"22","author":"Tian","year":"2017","journal-title":"Comp Biochem Physiol Part D Genomics Proteomics"},{"issue":"6300","key":"2021122117121629300_bib24","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1038\/348450a0","article-title":"Expression of a candidate sex-determining gene during mouse testis differentiation","volume":"348","author":"Koopman","year":"1990","journal-title":"Nature"},{"issue":"8","key":"2021122117121629300_bib25","doi-asserted-by":"crossref","first-page":"478","DOI":"10.1038\/nrendo.2015.69","article-title":"Disorders of sex development: effect of molecular diagnostics","volume":"11","author":"Achermann","year":"2015","journal-title":"Nat Rev Endocrinol"},{"issue":"4","key":"2021122117121629300_bib26","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"},{"issue":"4","key":"2021122117121629300_bib27","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"},{"issue":"6","key":"2021122117121629300_bib28","doi-asserted-by":"crossref","first-page":"898","DOI":"10.1016\/j.ajhg.2010.11.003","article-title":"Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination","volume":"87","author":"Pearlman","year":"2010","journal-title":"Am J Hum Genet"},{"issue":"2","key":"2021122117121629300_bib29","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1111\/cen.13717","article-title":"Long-term outcomes and molecular analysis of a large cohort of patients with 46,XY disorder of sex development due to partial gonadal dysgenesis","volume":"89","author":"Gomes","year":"2018","journal-title":"Clin Endocrinol (Oxf)"},{"issue":"2","key":"2021122117121629300_bib30","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1210\/jcem.85.2.6418","article-title":"Clinical review 111: familial sex reversal: a review","volume":"85","author":"Sarafoglou","year":"2000","journal-title":"J Clin Endocrinol Metab"},{"issue":"12","key":"2021122117121629300_bib31","doi-asserted-by":"crossref","first-page":"782","DOI":"10.1007\/s00109-002-0376-9","article-title":"Novel mutations affecting SRY DNA-binding activity: the HMG box N65H associated with 46,XY pure gonadal dysgenesis and the familial non-HMG box R30I associated with variable phenotypes","volume":"80","author":"Assump\u00e7\u00e3o","year":"2002","journal-title":"J Mol Med (Berl)"},{"issue":"5","key":"2021122117121629300_bib32","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 his unaffected father","volume":"95","author":"Philibert","year":"2011","journal-title":"Fertil Steril"},{"issue":"6220","key":"2021122117121629300_bib33","doi-asserted-by":"crossref","first-page":"1260419","DOI":"10.1126\/science.1260419","article-title":"Proteomics. Tissue-based map of the human proteome","volume":"347","author":"Uhl\u00e9n","year":"2015","journal-title":"Science"},{"issue":"6340","key":"2021122117121629300_bib34","doi-asserted-by":"crossref","first-page":"eaal3321","DOI":"10.1126\/science.aal3321","article-title":"A subcellular map of the human proteome","volume":"356","author":"Thul","year":"2017","journal-title":"Science"},{"issue":"6352","key":"2021122117121629300_bib35","doi-asserted-by":"crossref","first-page":"eaan2507","DOI":"10.1126\/science.aan2507","article-title":"A pathology atlas of the human cancer transcriptome","volume":"357","author":"Uhlen","year":"2017","journal-title":"Science"},{"key":"2021122117121629300_bib36","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1016\/S0074-7696(08)60766-4","article-title":"The Sertoli-germ cell communication network in mammals","volume":"147","author":"J\u00e9gou","year":"1993","journal-title":"Int Rev Cytol"},{"issue":"1","key":"2021122117121629300_bib37","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1210\/edrv-12-1-45","article-title":"Cell-cell interactions in the testis","volume":"12","author":"Skinner","year":"1991","journal-title":"Endocr Rev"},{"issue":"4","key":"2021122117121629300_bib38","doi-asserted-by":"crossref","first-page":"825","DOI":"10.1152\/physrev.00009.2002","article-title":"Cell junction dynamics in the testis: Sertoli-germ cell interactions and male contraceptive development","volume":"82","author":"Cheng","year":"2002","journal-title":"Physiol Rev"},{"issue":"4","key":"2021122117121629300_bib39","doi-asserted-by":"crossref","first-page":"R181","DOI":"10.1530\/REP-14-0663","article-title":"On the role of germ cells in mammalian gonad development: quiet passengers or back-seat drivers","volume":"149","author":"Rios-Rojas","year":"2015","journal-title":"Reproduction"},{"issue":"22","key":"2021122117121629300_bib40","doi-asserted-by":"crossref","first-page":"2409","DOI":"10.1101\/gad.228080.113","article-title":"Building the mammalian testis: origins, differentiation, and assembly of the component cell populations","volume":"27","author":"Svingen","year":"2013","journal-title":"Genes Dev"}],"container-title":["The Journal of Clinical Endocrinology &amp; Metabolism"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/jcem\/advance-article-pdf\/doi\/10.1210\/jc.2019-00984\/28909348\/jc.2019-00984.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jcem\/article-pdf\/104\/12\/5923\/41844225\/jcem_104_12_5923.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jcem\/article-pdf\/104\/12\/5923\/41844225\/jcem_104_12_5923.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,18]],"date-time":"2023-09-18T09:04:34Z","timestamp":1695027874000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcem\/article\/104\/12\/5923\/5528891"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,7,9]]},"references-count":40,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2019,7,9]]},"published-print":{"date-parts":[[2019,12,1]]}},"URL":"https:\/\/doi.org\/10.1210\/jc.2019-00984","relation":{},"ISSN":["0021-972X","1945-7197"],"issn-type":[{"value":"0021-972X","type":"print"},{"value":"1945-7197","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2019,12]]},"published":{"date-parts":[[2019,7,9]]}}}