Lee PA, Houk CP, Ahmed F et al (2006) Consensus statement on management of intersex disorders. International Consensus Conference on Intersex. Pediatrics 118. https://doi.org/10.1542/PEDS.2006-0738

46,XY Differences of Sexual Development, Domenice S, Batista RL, Arnhold IJP et al 46,XY Differences of Sexual Development. [Updated 2022 Aug 21]. In: Feingold KR, Anawalt B, Blackman MR,., editors. Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc.; 2000-. https://www.ncbi.nlm.nih.gov/books/NBK279170/

Oba K, Yanase T, Nomura M et al (1996) Structural characterization of human Ad4bp (SF-1) gene. Biochem Biophys Res Commun 226:261–267. https://doi.org/10.1006/bbrc.1996.1343

Article  CAS  PubMed  Google Scholar 

Wong M, Ramayya MS, Chrousos GP et al (1996) Cloning and sequence analysis of the human gene encoding steroidogenic factor 1. J Mol Endocrinol 17:139–147. https://doi.org/10.1677/JME.0.0170139

Article  CAS  PubMed  Google Scholar 

Werner R, Mönig I, Lünstedt R et al (2017) New NR5A1 mutations and phenotypic variations of gonadal dysgenesis. PLoS ONE 12:e0176720. https://doi.org/10.1371/JOURNAL.PONE.0176720

Article  PubMed  PubMed Central  Google Scholar 

Kouri C, Sommer G, Martinez de Lapiscina I et al (2024) Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development. https://doi.org/10.1016/J.EBIOM.2023.104941. EBioMedicine 99:

Achermann JC, Ito M, Ito M et al (1999) A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans. Nat Genet 22:125–126. https://doi.org/10.1038/9629

Article  CAS  PubMed  Google Scholar 

Yagi H, Takagi M, Kon M et al (2015) Fertility preservation in a family with a novel NR5A1 mutation. Endocr J 62:289–295. https://doi.org/10.1507/ENDOCRJ.EJ14-0340

Article  CAS  PubMed  Google Scholar 

Allali S, Muller JB, Brauner R et al (2011) Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadias. PLoS ONE 6:e24117. https://doi.org/10.1371/JOURNAL.PONE.0024117

Article  CAS  PubMed  PubMed Central  Google Scholar 

Bertelloni S, Dati E, Baldinotti F et al (2014) NR5A1 gene mutations: clinical, endocrine and genetic features in two girls with 46,XY disorder of sex development. Horm Res Paediatr 81:104–108. https://doi.org/10.1159/000354990

Article  CAS  PubMed  Google Scholar 

Röpke A, Tewes AC, Gromoll J et al (2013) Comprehensive sequence analysis of the NR5A1 gene encoding steroidogenic factor 1 in a large group of infertile males. Eur J Hum Genet 21:1012–1015. https://doi.org/10.1038/EJHG.2012.290

Article  PubMed  PubMed Central  Google Scholar 

Bashamboo A, Donohoue PA, Vilain E et al (2016) A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development. Hum Mol Genet 25:3446–3453. https://doi.org/10.1093/HMG/DDW186

Article  CAS  PubMed  PubMed Central  Google Scholar 

Igarashi M, Takasawa K, Hakoda A et al (2017) Identical NR5A1 missense mutations in two unrelated 46,XX individuals with testicular tissues. Hum Mutat 38:39–42. https://doi.org/10.1002/HUMU.23116

Article  CAS  PubMed  Google Scholar 

Malikova J, Camats N, Fernández-Cancio M et al (2014) Human NR5A1/SF-1 mutations show decreased activity on BDNF (brain-derived neurotrophic factor), an important regulator of energy balance: testing impact of novel SF-1 mutations beyond steroidogenesis. PLoS ONE 9:e104838. https://doi.org/10.1371/JOURNAL.PONE.0104838

Article  PubMed  PubMed Central  Google Scholar 

Bashamboo A, Ferraz-De-Souza B, Loureno D et al (2010) Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1. Am J Hum Genet 87:505–512. https://doi.org/10.1016/J.AJHG.2010.09.009

Article  CAS  PubMed  PubMed Central  Google Scholar 

Köhler B, Lin L, Ferraz-de-Souza B et al (2008) Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency. Hum Mutat 29:59–64. https://doi.org/10.1002/HUMU.20588

Article  PubMed  PubMed Central  Google Scholar 

Biason-Lauber A, Schoenle EJ (2000) Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and adrenocortical insufficiency. Am J Hum Genet 67:1563–1568. https://doi.org/10.1086/316893

Article  CAS  PubMed  PubMed Central  Google Scholar 

Achermann JC, Ozisik G, Ito M et al (2002) Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner. J Clin Endocrinol Metab 87:1829–1833. https://doi.org/10.1210/JCEM.87.4.8376

Article  CAS  PubMed  Google Scholar 

Guran T, Buonocore F, Saka N et al (2016) Rare causes of primary adrenal insufficiency: genetic and clinical characterization of a large Nationwide Cohort. J Clin Endocrinol Metab 101:284–292. https://doi.org/10.1210/JC.2015-3250

Article  CAS  PubMed  Google Scholar 

Lin L, Gu WX, Ozisik G et al (2006) Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years’ experience. J Clin Endocrinol Metab 91:3048–3054. https://doi.org/10.1210/JC.2006-0603

Article  CAS  PubMed  Google Scholar 

Eid W, Biason-Lauber A (2016) Why boys will be boys and girls will be girls: human sex development and its defects. Birth Defects Res C Embryo Today 108:365–379. https://doi.org/10.1002/BDRC.21143

Article  CAS  PubMed  Google Scholar 

Arboleda VA, Sandberg DE, Vilain E (2014) DSDs: genetics, underlying pathologies and psychosexual differentiation. Nat Rev Endocrinol 10:603–615. https://doi.org/10.1038/NRENDO.2014.130

Article  PubMed  PubMed Central  Google Scholar 

Fabbri-Scallet H, de Sousa LM, Maciel-Guerra AT et al (2020) Mutation update for the NR5A1 gene involved in DSD and infertility. Hum Mutat 41:58–68. https://doi.org/10.1002/HUMU.23916

Article  CAS  PubMed  Google Scholar 

Ferraz-de-Souza B, Lin L, Achermann JC (2011) Steroidogenic factor-1 (SF-1, NR5A1) and human disease. Mol Cell Endocrinol 336:198–205. https://doi.org/10.1016/J.MCE.2010.11.006

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hatano O, Takakusu A, Nomura M, Morohashi KI (1996) Identical origin of adrenal cortex and gonad revealed by expression profiles of Ad4BP/SF-1. Genes Cells 1:663–671. https://doi.org/10.1046/J.1365-2443.1996.00254.X

Article  CAS  PubMed  Google Scholar 

Sekido R, Lovell-Badge R (2008) Sex determination involves synergistic action of SRY and SF1 on a specific Sox9 enhancer. Nature 453:930–934. https://doi.org/10.1038/NATURE06944

Article  CAS  PubMed  Google Scholar 

Sekido R, Lovell-Badge R (2013) Genetic control of testis development. Sex Dev 7:21–32. https://doi.org/10.1159/000342221

Article  CAS  PubMed  Google Scholar 

Karpova T, Ravichandiran K, Insisienmay L et al (2015) Steroidogenic factor 1 differentially regulates fetal and adult leydig cell development in male mice. Biol Reprod 93:83. https://doi.org/10.1095/BIOLREPROD.115.131193

Article  PubMed  PubMed Central  Google Scholar 

Parker KL, Rice DA, Lala DS et al (2002) Steroidogenic factor 1: an essential mediator of endocrine development. Recent Prog Horm Res 57:19–36. https://doi.org/10.1210/RP.57.1.19

Article  CAS  PubMed  Google Scholar 

Takayama K, Sasano H, Fukaya T et al (1995) Immunohistochemical localization of Ad4-binding protein w