{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,5]],"date-time":"2026-09-05T00:09:00Z","timestamp":1788566940374,"version":"build-2803163510"},"reference-count":76,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"abstract":"<jats:p>This study aims to characterize the cell atlas of the epididymis derived from a 46,XY disorders of sex development (DSD) patient with a novel heterozygous mutation of the nuclear receptor subfamily 5 group A member 1 (NR5A1) gene. Next-generation sequencing found a heterozygous c.124C&gt;G mutation in NR5A1 that resulted in a p.Q42E missense mutation in the conserved DNA-binding domain of NR5A1. The patient demonstrated feminization of external genitalia and Tanner stage 1 breast development. The surgical procedure revealed a morphologically normal epididymis and vas deferens but a dysplastic testis. Microfluidic-based single-cell RNA sequencing (scRNA-seq) analysis found that the fibroblast cells were significantly increased (approximately 46.5%), whereas the number of main epididymal epithelial cells (approximately 9.2%), such as principal cells and basal cells, was dramatically decreased. Bioinformatics analysis of cell\u2013cell communications and gene regulatory networks at the single-cell level inferred that epididymal epithelial cell loss and fibroblast occupation are associated with the epithelial-to-mesenchymal transition (EMT) process. The present study provides a cell atlas of the epididymis of a patient with 46,XY DSD and serves as an important resource for understanding the pathophysiology of DSD.<\/jats:p>","DOI":"10.4103\/aja202226","type":"journal-article","created":{"date-parts":[[2022,5,5]],"date-time":"2022-05-05T11:19:02Z","timestamp":1651749542000},"page":"103-112","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":6,"title":["Epididymis cell atlas in a patient with a sex development disorder and a novel NR5A1 gene mutation"],"prefix":"10.4103","volume":"25","author":[{"given":"Jian-Wu","family":"Shi","sequence":"first","affiliation":[{"name":"Institute of Reproductive Medicine, Medical School of Nantong University, Nantong 226000, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi-Wen","family":"Zhou","sequence":"additional","affiliation":[{"name":"Department of Plastic and Reconstructive Surgery, Shanghai Ninth People\u2019s Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200011, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu-Fei","family":"Chen","sequence":"additional","affiliation":[{"name":"Institute of Reproductive Medicine, Medical School of Nantong University, Nantong 226000, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mei","family":"Ye","sequence":"additional","affiliation":[{"name":"Institute of Reproductive Medicine, Medical School of Nantong University, Nantong 226000, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Feng","family":"Qiao","sequence":"additional","affiliation":[{"name":"Institute of Reproductive Medicine, Medical School of Nantong University, Nantong 226000, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jia-Wei","family":"Tian","sequence":"additional","affiliation":[{"name":"Institute of Reproductive Medicine, Medical School of Nantong University, Nantong 226000, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meng-Ya","family":"Zhang","sequence":"additional","affiliation":[{"name":"Institute of Reproductive Medicine, Medical School of Nantong University, Nantong 226000, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hao-Cheng","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Urology, Peking University Third Hospital, Beijing 100191, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gang-Cai","family":"Xie","sequence":"additional","affiliation":[{"name":"Institute of Reproductive Medicine, Medical School of Nantong University, Nantong 226000, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kin Lam","family":"Fok","sequence":"additional","affiliation":[{"name":"School of Biomedical Sciences, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong SAR, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hui","family":"Jiang","sequence":"additional","affiliation":[{"name":"Department of Urology, Peking University Third Hospital, Beijing 100191, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yang","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Plastic and Reconstructive Surgery, Shanghai Ninth People\u2019s Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200011, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hao","family":"Chen","sequence":"additional","affiliation":[{"name":"Institute of Reproductive Medicine, Medical School of Nantong University, Nantong 226000, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2023,1]]},"reference":[{"key":"R1-20240829","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1016\/j.jpurol.2006.03.004","article-title":"Consensus statement on management of intersex disorders","volume":"2","author":"Hughes","year":"2006","journal-title":"J Pediatr Urol"},{"key":"R2-20240829","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1097\/GCO.0b013e3282eeb13d","article-title":"Disorders of sex development","volume":"19","author":"Nabhan","year":"2007","journal-title":"Curr Opin Obstet Gynecol"},{"key":"R3-20240829","doi-asserted-by":"crossref","first-page":"1185","DOI":"10.1210\/js.2018-00408","article-title":"Frequency of ambiguous genitalia in 14,177 newborns in Turkey","volume":"3","author":"Aydin","year":"2019","journal-title":"J Endocr Soc"},{"key":"R4-20240829","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1159\/000357956","article-title":"The genetics of disorders of sex development in humans","volume":"8","author":"Ohnesorg","year":"2014","journal-title":"Sex Dev"},{"key":"R5-20240829","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1016\/j.beem.2009.11.004","article-title":"Impact of the consensus statement and the new DSD classification system","volume":"24","author":"Pasterski","year":"2010","journal-title":"Best Pract Res Clin Endocrinol Metab"},{"key":"R6-20240829","doi-asserted-by":"crossref","first-page":"3446","DOI":"10.1093\/hmg\/ddw186","article-title":"A recurrent 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":"R7-20240829","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":"R8-20240829","doi-asserted-by":"crossref","first-page":"5595","DOI":"10.1007\/s11033-019-04980-8","article-title":"The importance of the multiplex ligation-dependent probe amplification in the identification of a novel two-exon deletion of the NR5A1 gene in a patient with 46,XY differences of sex development","volume":"46","author":"Nagy","year":"2019","journal-title":"Mol Biol Rep"},{"key":"R9-20240829","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":"R10-20240829","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1046\/j.1365-2443.1996.00254.x","article-title":"Identical origin of adrenal cortex and gonad revealed by expression profiles of Ad4BP\/SF-1","volume":"1","author":"Hatano","year":"1996","journal-title":"Genes Cells"},{"key":"R11-20240829","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":"R12-20240829","doi-asserted-by":"crossref","first-page":"4452","DOI":"10.1038\/s41598-019-41051-1","article-title":"Steroidogenic Factor 1 (Nr5a1) is required for Sertoli cell survival post sex determination","volume":"9","author":"Anamthathmakula","year":"2019","journal-title":"Sci Rep"},{"key":"R13-20240829","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1095\/biolreprod.115.131193","article-title":"Steroidogenic factor 1 differentially regulates fetal and adult Leydig cell development in male mice","volume":"93","author":"Karpova","year":"2015","journal-title":"Biol Reprod"},{"key":"R14-20240829","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1210\/rp.57.1.19","article-title":"Steroidogenic factor 1: an essential mediator of endocrine development","volume":"57","author":"Parker","year":"2002","journal-title":"Recent Prog Horm Res"},{"key":"R15-20240829","doi-asserted-by":"crossref","first-page":"706","DOI":"10.1210\/mend.12.5.0107","article-title":"Transcription of the Leydig insulin-like gene is mediated by steroidogenic factor-1","volume":"12","author":"Zimmermann","year":"1998","journal-title":"Mol Endocrinol"},{"key":"R16-20240829","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1016\/j.jpag.2013.06.006","article-title":"A novel heterozygous mutation in steroidogenic factor-1 in pubertal virilization of a 46,XY female adolescent","volume":"27","author":"Siklar","year":"2014","journal-title":"J Pediatr Adolesc Gynecol"},{"key":"R17-20240829","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1507\/endocrj.K08E-380","article-title":"A novel heterozygous mutation of steroidogenic factor-1 (SF-1\/Ad4BP) gene (NR5A1) in a 46,XY disorders of sex development (DSD) patient without adrenal failure","volume":"56","author":"Tajima","year":"2009","journal-title":"Endocr J"},{"key":"R18-20240829","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":"R19-20240829","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1159\/000431324","article-title":"Novel heterozygous mutations of NR5A1 and their functional characteristics in patients with 46,XY disorders of sex development without adrenal insufficiency","volume":"84","author":"Woo","year":"2015","journal-title":"Horm Res Paediatr"},{"key":"R20-20240829","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":"R21-20240829","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"},{"key":"R22-20240829","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1507\/endocrj.EJ14-0340","article-title":"Fertility preservation in a family with a novel NR5A1 mutation","volume":"62","author":"Yagi","year":"2015","journal-title":"Endocr J"},{"key":"R23-20240829","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1210\/me.2005-0384","article-title":"Sequence-specific deoxyribonucleic acid (DNA) recognition by steroidogenic factor 1: a helix at the carboxy terminus of the DNA binding domain is necessary for complex stability","volume":"20","author":"Little","year":"2006","journal-title":"Mol Endocrinol"},{"key":"R24-20240829","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1007\/s00439-018-1879-y","article-title":"Next-generation sequencing reveals genetic landscape in 46,XY disorders of sexual development patients with variable phenotypes","volume":"137","author":"Wang","year":"2018","journal-title":"Hum Genet"},{"key":"R25-20240829","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1038\/s41421-021-00260-7","article-title":"Spatio-temporal landscape of mouse epididymal cells and specific mitochondria-rich segments defined by large-scale single-cell RNA-seq","volume":"7","author":"Shi","year":"2021","journal-title":"Cell Discov"},{"key":"R26-20240829","doi-asserted-by":"crossref","first-page":"1888","DOI":"10.1016\/j.cell.2019.05.031","article-title":"Comprehensive integration of single-cell data","volume":"177","author":"Stuart","year":"2019","journal-title":"Cell"},{"key":"R27-20240829","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1089\/omi.2011.0118","article-title":"clusterProfiler: an R package for comparing biological themes among gene clusters","volume":"16","author":"Yu","year":"2012","journal-title":"OMICS"},{"key":"R28-20240829","doi-asserted-by":"crossref","first-page":"1088","DOI":"10.1038\/s41467-021-21246-9","article-title":"Inference and analysis of cell-cell communication using CellChat","volume":"12","author":"Jin","year":"2021","journal-title":"Nat Commun"},{"key":"R29-20240829","doi-asserted-by":"crossref","first-page":"2247","DOI":"10.1038\/s41596-020-0336-2","article-title":"A scalable SCENIC workflow for single-cell gene regulatory network analysis","volume":"15","author":"Van de Sande","year":"2020","journal-title":"Nat Protoc"},{"key":"R30-20240829","doi-asserted-by":"crossref","first-page":"1083","DOI":"10.1038\/nmeth.4463","article-title":"SCENIC: single-cell regulatory network inference and clustering","volume":"14","author":"Aibar","year":"2017","journal-title":"Nat Methods"},{"key":"R31-20240829","doi-asserted-by":"crossref","first-page":"2498","DOI":"10.1101\/gr.1239303","article-title":"Cytoscape: a software environment for integrated models of biomolecular interaction networks","volume":"13","author":"Shannon","year":"2003","journal-title":"Genome Res"},{"key":"R32-20240829","doi-asserted-by":"crossref","first-page":"1436","DOI":"10.1016\/j.celrep.2018.10.045","article-title":"Revealing the critical regulators of cell identity in the mouse cell atlas","volume":"25","author":"Suo","year":"2018","journal-title":"Cell Rep"},{"key":"R33-20240829","doi-asserted-by":"crossref","first-page":"1293","DOI":"10.1016\/j.cell.2018.05.060","article-title":"Single-cell map of diverse immune phenotypes in the breast tumor microenvironment","volume":"174","author":"Azizi","year":"2018","journal-title":"Cell"},{"key":"R34-20240829","doi-asserted-by":"crossref","first-page":"578","DOI":"10.1016\/j.gpb.2021.08.001","article-title":"The Genome Sequence Archive family: toward explosive data growth and diverse data types","volume":"19","author":"Chen","year":"2021","journal-title":"Genomics Proteomics Bioinformatics"},{"key":"R35-20240829","doi-asserted-by":"crossref","first-page":"D18","DOI":"10.1093\/nar\/gkaa1022","article-title":"Database resources of the National Genomics Data Center, China National Center for Bioinformation in 2021","volume":"49","year":"2021","journal-title":"Nucleic Acids Res"},{"key":"R36-20240829","doi-asserted-by":"crossref","first-page":"1016","DOI":"10.1084\/jem.20181827","article-title":"Context-dependent EMT programs in cancer metastasis","volume":"216","author":"Aiello","year":"2019","journal-title":"J Exp Med"},{"key":"R37-20240829","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1146\/annurev-pathol-020117-043854","article-title":"Epithelial mesenchymal transition in tumor metastasis","volume":"13","author":"Mittal","year":"2018","journal-title":"Annu Rev Pathol"},{"key":"R38-20240829","doi-asserted-by":"crossref","first-page":"83","DOI":"10.3390\/medicina55040083","article-title":"Epithelial-mesenchymal transition in the pathogenesis of idiopathic pulmonary fibrosis","volume":"55","author":"Salton","year":"2019","journal-title":"Medicina (Kaunas)"},{"key":"R39-20240829","doi-asserted-by":"crossref","first-page":"T69","DOI":"10.1530\/JME-17-0311","article-title":"IGF1 receptor signaling pathways","volume":"61","author":"Hakuno","year":"2018","journal-title":"J Mol Endocrinol"},{"key":"R40-20240829","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1186\/s12943-016-0576-5","article-title":"IGF-IR signaling in epithelial to mesenchymal transition and targeting IGF-IR therapy: overview and new insights","volume":"16","author":"Li","year":"2017","journal-title":"Mol Cancer"},{"key":"R41-20240829","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1007\/s10555-020-09908-4","article-title":"Multiple roles of HOX proteins in metastasis: let me count the ways","volume":"39","author":"Jonkers","year":"2020","journal-title":"Cancer Metastasis Rev"},{"key":"R42-20240829","doi-asserted-by":"crossref","first-page":"nwaa180","DOI":"10.1093\/nsr\/nwaa180","article-title":"Single-cell transcriptomic landscape of human blood cells","volume":"8","author":"Xie","year":"2021","journal-title":"Natl Sci Rev"},{"key":"R43-20240829","doi-asserted-by":"crossref","first-page":"374","DOI":"10.1055\/s-0032-1324720","article-title":"Steroidogenic factor-1 and human disease","volume":"30","author":"El-Khairi","year":"2012","journal-title":"Semin Reprod Med"},{"key":"R44-20240829","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1016\/0092-8674(94)90050-7","article-title":"Nuclear receptor steroidogenic factor 1 regulates the Mullerian inhibiting substance gene: a link to the sex determination cascade","volume":"77","author":"Shen","year":"1994","journal-title":"Cell"},{"key":"R45-20240829","doi-asserted-by":"crossref","first-page":"e13585","DOI":"10.1111\/and.13585","article-title":"A missense mutation in NR5A1 causing female to male sex reversal: a case report","volume":"52","author":"Askari","year":"2020","journal-title":"Andrologia"},{"key":"R46-20240829","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1002\/humu.23916","article-title":"Mutation update for the NR5A1 gene involved in DSD and infertility","volume":"41","author":"Fabbri-Scallet","year":"2020","journal-title":"Hum Mutat"},{"key":"R47-20240829","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":"R48-20240829","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1007\/BF03195733","article-title":"Complete XY gonadal dysgenesis due to p. D293N homozygous mutation in the NR5A1 gene: a case study","volume":"51","author":"Soardi","year":"2010","journal-title":"J Appl Genet"},{"key":"R49-20240829","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":"R50-20240829","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1093\/humupd\/dmn055","article-title":"New insights into epididymal biology and function","volume":"15","author":"Cornwall","year":"2009","journal-title":"Hum Reprod Update"},{"key":"R51-20240829","doi-asserted-by":"crossref","first-page":"e20200744","DOI":"10.26508\/lsa.202000744","article-title":"An atlas of human proximal epididymis reveals cell-specific functions and distinct roles for CFTR","volume":"3","author":"Leir","year":"2020","journal-title":"Life Sci Alliance"},{"key":"R52-20240829","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1038\/nrc.2017.118","article-title":"EMT in cancer","volume":"18","author":"Brabletz","year":"2018","journal-title":"Nat Rev Cancer"},{"key":"R53-20240829","doi-asserted-by":"crossref","first-page":"1597","DOI":"10.1016\/j.ajpath.2018.03.004","article-title":"CD147 induces epithelial-to-mesenchymal transition by disassembling cellular apoptosis susceptibility protein\/E-cadherin\/beta-catenin complex in human endometriosis","volume":"188","author":"Wang","year":"2018","journal-title":"Am J Pathol"},{"key":"R54-20240829","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1177\/1535370215597194","article-title":"Epithelial-mesenchymal transition: an emerging target in tissue fibrosis","volume":"241","author":"Li","year":"2016","journal-title":"Exp Biol Med"},{"key":"R55-20240829","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1186\/s12931-015-0232-4","article-title":"Fibroblast-epithelial cell interactions drive epithelial-mesenchymal transition differently in cells from normal and COPD patients","volume":"16","author":"Nishioka","year":"2015","journal-title":"Respir Res"},{"key":"R56-20240829","doi-asserted-by":"crossref","first-page":"5459","DOI":"10.2147\/CMAR.S196862","article-title":"IGF1R facilitates epithelial-mesenchymal transition and cancer stem cell properties in neuroblastoma via the STAT3\/AKT axis","volume":"11","author":"Wang","year":"2019","journal-title":"Cancer Manag Res"},{"key":"R57-20240829","doi-asserted-by":"crossref","first-page":"111922","DOI":"10.18632\/oncotarget.22952","article-title":"IGF-1 induces the epithelial-mesenchymal transition via Stat5 in hepatocellular carcinoma","volume":"8","author":"Zhao","year":"2017","journal-title":"Oncotarget"},{"key":"R58-20240829","doi-asserted-by":"crossref","first-page":"44332","DOI":"10.18632\/oncotarget.6293","article-title":"Implication of epithelial-mesenchymal transition in IGF1R-induced resistance to EGFR-TKIs in advanced non-small cell lung cancer","volume":"6","author":"Zhou","year":"2015","journal-title":"Oncotarget"},{"key":"R59-20240829","doi-asserted-by":"crossref","first-page":"2827","DOI":"10.1002\/ijc.32613","article-title":"Paracrine recruitment and activation of fibroblasts by c-Myc expressing breast epithelial cells through the IGFs\/IGF-1R axis","volume":"145","author":"De Vincenzo","year":"2019","journal-title":"Int J Cancer"},{"key":"R60-20240829","doi-asserted-by":"crossref","first-page":"591374","DOI":"10.1155\/2014\/591374","article-title":"Hox transcription factors: modulators of cell-cell and cell-extracellular matrix adhesion","volume":"2014","author":"Taniguchi","year":"2014","journal-title":"Biomed Res Int"},{"key":"R61-20240829","doi-asserted-by":"crossref","first-page":"644","DOI":"10.1095\/biolreprod.102.009324","article-title":"5'hox genes and Meis 1, a Hox-DNA binding cofactor, are expressed in the adult mouse epididymis","volume":"68","author":"Bomgardner","year":"2003","journal-title":"Biol Reprod"},{"key":"R62-20240829","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1002\/j.1939-4640.2001.tb02210.x","article-title":"Hox transcription factors may play a role in regulating segmental function of the adult epididymis","volume":"22","author":"Bomgardner","year":"2001","journal-title":"J Androl"},{"key":"R63-20240829","doi-asserted-by":"crossref","first-page":"2479","DOI":"10.1002\/dvdy.22378","article-title":"Gene expression in the efferent ducts, epididymis, and vas deferens during embryonic development of the mouse","volume":"239","author":"Snyder","year":"2010","journal-title":"Dev Dyn"},{"key":"R64-20240829","doi-asserted-by":"crossref","first-page":"15209","DOI":"10.1073\/pnas.011503998","article-title":"Aberrant expression of homeobox gene HOXA7 is associated with Mullerian-like differentiation of epithelial ovarian tumors and the generation of a specific autologous antibody response","volume":"98","author":"Naora","year":"2001","journal-title":"Proc Natl Acad Sci U S A"},{"key":"R65-20240829","doi-asserted-by":"crossref","first-page":"889","DOI":"10.1158\/0008-5472.CAN-05-2828","article-title":"Deregulation of the HOXA10 homeobox gene in endometrial carcinoma: role in epithelial-mesenchymal transition","volume":"66","author":"Yoshida","year":"2006","journal-title":"Cancer Res"},{"key":"R66-20240829","doi-asserted-by":"crossref","first-page":"1224","DOI":"10.3389\/fphar.2018.01224","article-title":"Phenotype and molecular characterizations of 30 children from China with NR5A1 mutations","volume":"9","author":"Song","year":"2018","journal-title":"Front Pharmacol"},{"key":"R67-20240829","doi-asserted-by":"crossref","first-page":"906","DOI":"10.3389\/fendo.2019.00906","article-title":"Hypogonadism and cryptorchidism","volume":"10","author":"Rodprasert","year":"2019","journal-title":"Front Endocrinol (Lausanne)"},{"key":"R68-20240829","doi-asserted-by":"crossref","first-page":"2480","DOI":"10.14260\/jemds\/2019\/540","article-title":"Cryptorchidism and its effects on histomorphology of testis in paediatric age group","volume":"8","author":"Krishna","year":"2019","journal-title":"J Evol Med Dent Sci"},{"key":"R69-20240829","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":"Kohler","year":"2008","journal-title":"Hum Mutat"},{"key":"R70-20240829","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":"R71-20240829","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":"R72-20240829","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1159\/000448013","article-title":"NR5A1 loss-of-function mutations lead to 46,XY partial gonadal dysgenesis phenotype: report of three novel mutations","volume":"10","author":"Fabbri","year":"2016","journal-title":"Sex Dev"},{"key":"R73-20240829","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1002\/humu.23353","article-title":"Functional characterization of five NR5A1 gene mutations found in patients with 46,XY disorders of sex development","volume":"39","author":"Fabbri-Scallet","year":"2018","journal-title":"Hum Mutat"},{"key":"R74-20240829","doi-asserted-by":"crossref","first-page":"e24117","DOI":"10.1371\/journal.pone.0024117","article-title":"Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46,XY disorders of sex development (DSD) including hypospadias","volume":"6","author":"Allali","year":"2011","journal-title":"PLoS One"},{"key":"R75-20240829","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1186\/1477-7827-8-28","article-title":"Steroidogenic factor-1 (SF-1) gene mutation as a frequent cause of primary amenorrhea in 46,XY female adolescents with low testosterone concentration","volume":"8","author":"Philibert","year":"2010","journal-title":"Reprod Biol Endocrinol"},{"key":"R76-20240829","doi-asserted-by":"crossref","first-page":"1105","DOI":"10.1016\/j.fertnstert.2018.02.123","article-title":"Mutational and functional studies on NR5A1 gene in 46,XY disorders of sex development: identification of six novel loss of function mutations","volume":"109","author":"Rocca","year":"2018","journal-title":"Fertil Steril"}],"container-title":["Asian Journal of Andrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.4103\/aja202226","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T14:53:50Z","timestamp":1787756030000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/aja202226"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,5,6]]},"references-count":76,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2023]]}},"URL":"https:\/\/doi.org\/10.4103\/aja202226","relation":{},"ISSN":["1745-7262","1008-682X"],"issn-type":[{"value":"1745-7262","type":"print"},{"value":"1008-682X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,5,6]]},"assertion":[{"value":"2021-10-21","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-03-24","name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}}]}}