Minireview: Steroidogenic Factor 1: Its Roles in Differentiation, Development, and Disease

A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation

Luo, X., Ikeda, Y., & Parker, K. L. (1994) · Cell · doi:10.1016/0092-8674(94)90211-9 · Cited by 1,631

Proximal events in Wnt signal transduction

Angers, S., & Moon, R. T. (2009) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm2717 · Cited by 1,135

Steroidogenic factor 1: a key determinant of endocrine development and function

Parker, K. L., & Schimmer, B. P. (1997) · Endocrine Reviews · doi:10.1210/edrv.18.3.0301 · Cited by 764

A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans

Achermann, J. C., Ito, M., Ito, M., Hindmarsh, P. C., & Jameson, J. L. (1999) · Nature Genetics · doi:10.1038/9629 · Cited by 709

Steroidogenic factor I, a key regulator of steroidogenic enzyme expression, is the mouse homolog of fushi tarazu-factor I

Lala, D. S. (1992) · Molecular Endocrinology · doi:10.1210/me.6.8.1249 · Cited by 678

Developmental expression of mouse steroidogenic factor-1, an essential regulator of the steroid hydroxylases

Ikeda, Y., Shen, W. H., Ingraham, H. A., & Parker, K. L. (1994) · Molecular Endocrinology · doi:10.1210/mend.8.5.8058073 · Cited by 628

Direct Interaction of SRY-Related Protein SOX9 and Steroidogenic Factor 1 Regulates Transcription of the Human Anti-Müllerian Hormone Gene

Barbara, P. D. S., Bonneaud, N., Boizet‐Bonhoure, B., Desclozeaux, M., Moniot, B., Südbeck, P., Scherer, G., Poulat, F., & Berta, P. (1998) · Molecular and Cellular Biology · doi:10.1128/mcb.18.11.6653 · Cited by 605

Wilms’ tumor 1 and Dax-1 modulate the orphan nuclear receptor SF-1 in sex-specific gene expression.

Nachtigal, M. W., Hirokawa, Y., Enyeart-VanHouten, D. L., Flanagan, J. N., Hammer, G. D., & Ingraham, H. A. (1998) · Cell · doi:10.1016/s0092-8674(00)81172-1 · Cited by 591

The nuclear receptor steroidogenic factor 1 acts at multiple levels of the reproductive axis.Preprint

Ingraham, H. A., Lala, D. S., Ikeda, Y., Luo, X., Shen, W. H., Nachtigal, M. W., Abbud-Antaki, R., Nilson, J. H., & Parker, K. L. (1994) · Genes & Development · doi:10.1101/gad.8.19.2302 · Cited by 588

Deletion of Wt1 during early gonadogenesis leads to differences of sex development in male and female adult mice

Torres-Cano, A., Portella-Fortuny, R., Müller‐Sánchez, C., Porras-Marfil, S., Ramiro‐Pareta, M., Chau, Y.-Y., Reina, M., Soriano, F. X., & Martínez-Estrada, O. M. (2022) · PLoS Genetics · doi:10.1371/journal.pgen.1010240 · Cited by 3

Effects and action mechanism of gonadotropins on ovarian follicular cells: A novel role of Sphingosine-1-Phosphate (S1P). A review

Guzmán, A., Rosales‐Torres, A. M., Medina-Moctezuma, Z. B., González-Aretia, D., & Hernández‐Coronado, C. G. (2024) · General and Comparative Endocrinology · doi:10.1016/j.ygcen.2024.114593 · Cited by 3

Population-Based Study of Rare Coding Variants in NR5A1/SF-1

Kouri, C., Jia, R., Kentistou, K. A., Gardner, E. J., Perry, J. R. B., Flueck, C. E., & Ong, K. K. (2024) · Journal of the Endocrine Society · doi:10.1210/jendso/bvae178 · Cited by 3

Testis and Paratesticular Tissues

Wilkerson, M. L., & Liang Cheng, C. (2015) · Springer eBooks · doi:10.1007/978-1-4939-1578-1_24 · Cited by 3

Phenotypic variation of spermatogenesis and a search for associations with genetic polymorphism in 13 inbred mouse strains

Осадчук, Л. В., Tupikin, A. E., Morozov, I. V., Kleschev, M., Bondar, A. A., & Осадчук, А. В. (2012) · Russian Journal of Genetics · doi:10.1134/s1022795412070101 · Cited by 3

Regulation Of Fshr And SF-1 In The Hypothalamus-Pituitary-Gonadal (HPG) Axis.

George, J. W. (2013) · Cited by 3

Autosomal Genes in Male Infertility

Singh, V., Bansal, S. K., Rajender, S., & Singh, K. (2017) · Springer eBooks · doi:10.1007/978-981-10-4017-7_14 · Cited by 3

Clinical Spectrum, Surgical Management, and Outcomes of NR5A1-Related 46,XY Differences of Sex Development: A Narrative Review

Vicario, S., Escolino, M., Esposito, G., Porcaro, M., Mase, R. D., Azizoğlu, M., & Esposito, C. (2025) · Medicina · doi:10.3390/medicina61111965 · Cited by 2

The emergence of multiple testicular cell lineages in human stem cell-derived testis-like organoids

Pachernegg, S., Robevska, G., Ferreira, L. G. A., Charitakis, N., Gu, J., Terhag, J., Martin, E., Bienroth, D., van den Bergen, J. A., Wilson, S. B., et al. (2026) · Development · doi:10.1242/dev.204772 · Cited by 2

Wstępne badania dotyczące zróżnicowania ekspresji receptorów hormonów kortykotropowych w gruczolakach nadnerczy

Hu, D., Liu, T., & Wang, X. (2015) · Endokrynologia Polska · doi:10.5603/ep.a2017.0047 · Cited by 2

Congenital Lipoid Adrenal Hyperplasia

Miller, W. L. (2014) · Springer eBooks · doi:10.1007/978-1-4939-1112-7_4 · Cited by 3

Statistical Analysis of Protein-Ligand Interaction Patterns in Nuclear Receptor RORγ

Pham, B., Cheng, Z., Lopez, D., Lindsay, R. J., Foutch, D., Majors, R. T., & Shen, T. (2022) · Frontiers in Molecular Biosciences · doi:10.3389/fmolb.2022.904445 · Cited by 2

Gonadotrophin Hormones

Abreu, A. P., & Kaiser, U. B. (2022) · Elsevier eBooks · doi:10.1016/b978-0-323-99899-4.00008-1 · Cited by 2

Cortisol-secreting adrenocortical tumours in dogs and their relevance for human medicine

Galac, S. (2015) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2015.06.026 · Cited by 2

Diacylglycerol kinases: Molecular mechanism of cellular and physiological functions

Kimura, T., & Epand, R. M. (2026) · Progress in Lipid Research · doi:10.1016/j.plipres.2025.101373 · Cited by 2

Age-Dependent Effects of Heavy Metals on the Hypothalamic–Pituitary–Testicular Axis-Related Hormones in Men

Mei, Y., Yan, Y., Ke, S., Su, W., Luo, Z., Chen, X., Xu, H., Su, W., & Li, A. (2026) · Toxics · doi:10.3390/toxics14010055 · Cited by 1

Expression and purification of Steroidogenic Factor-1 (NR5A1) nuclear receptor ligand binding domain complexed with the signaling phosphoinositide lipid PI(3,4,5)P3

Campbell, A. N., Cutright, A. J., Martin, J., Kheda, A., Loi, M. N. C., & Blind, R. D. (2026) · Methods in enzymology on CD-ROM/Methods in enzymology · doi:10.1016/bs.mie.2026.01.014 · Cited by 1

Genetics and Primary Aldosteronism: Disease Phenotype and Demographic Implications for Hypertension

Fayad, M., Ismail, D., Boulkroun, S., Fernandes-Rosa, F. L., & Zennaro, M. (2026) · Hypertension · doi:10.1161/hypertensionaha.126.26232 · Cited by 1

Differentiation of Pluripotent Stem Cells into Steroidogenic Cells: Role of SF-1 Regulator

Yazawa, T., Umezawa, A., & Miyamoto, K. (2012) · Stem cells and cancer stem cells · doi:10.1007/978-94-007-4798-2_16 · Cited by 1

Gene Mutations Associated with Male Infertility

Kusz-Zamelczyk, K., Ginter-Matuszewska, B., Sajek, M. P., & Jaruzelsk, J. (2012) · InTech eBooks · doi:10.5772/31733 · Cited by 1

Role of SF‐1 and DAX‐1 during differentiation of P19 cells by retinoic acid

Teets, B. W., Soprano, K. J., & Soprano, D. R. (2011) · Journal of Cellular Physiology · doi:10.1002/jcp.22866 · Cited by 1

The Central Control of Bone Mass

Takeda, S. (2012) · Elsevier eBooks · doi:10.1016/b978-0-12-415784-2.00003-8 · Cited by 1

Transcriptome analysis of the hypothalamic-pituitary-adrenal axis in the experimentally domesticated fox

Hekman, J. P. (2017) · Illinois Digital Environment for Access to Learning and Scholarship (University of Illinois at Urbana-Champaign) · Cited by 1

A novel variant of NR5A1, p.R350W implicates potential interactions with unknown co-factors or ligands

Gau, M., Suga, R., Hijikata, A., Kashimada, A., Takagi, M., Nakagawa, R., Takasawa, K., Shirai, T., Kashimada, K., & Morio, T. (2023) · Frontiers in Endocrinology · doi:10.3389/fendo.2022.1033074 · Cited by 1

Dorsomedial Ventromedial Hypothalamic Nucleus Growth Hormone-Releasing Hormone Neuron Steroidogenic Factor-1 Gene Targets in Female Rat

Sapkota, S., Roy, S. C., & Briski, K. P. (2024) · ASN NEURO · doi:10.1080/17590914.2024.2403345 · Cited by 1

Gonadotropin-releasing hormone regulates transcription of the inhibin B co-receptor, TGFBR3L, via early growth response one

Lin, Y., Buddle, E. R. S., Schultz, H., Zhou, X., Ongaro, L., Loka, M., Alonso, C. A. I., Boehm, U., Duggavathi, R., & Bernard, D. J. (2025) · Journal of Biological Chemistry · doi:10.1016/j.jbc.2025.108405 · Cited by 1

VMN growth hormone-releasing hormone receptor regulation of counterregulatory transmission

Sapkota, S., Shrestha, R., Katakam, S., Roy, S. C., & Briski, K. P. (2025) · Academia Biology · doi:10.20935/acadbiol7623 · Cited by 1

Gonadotrophin Hormones

Kaiser, U. B. (2017) · Elsevier eBooks · doi:10.1016/b978-0-12-804169-7.00007-6 · Cited by 2

Organe des Hormonsystems und ihre Entstehung

Kleine, B., & Rossmanith, W. G. (2020) · Springer eBooks · doi:10.1007/978-3-662-58502-3_10 · Cited by 1

Modeling Congenital Adrenal Hyperplasia and Testing Interventions for Adrenal Insufficiency Using Donor-Specific Reprogrammed CellsPreprint

Ruiz‐Babot, G., Balyura, M., Hadjidemetriou, I., Ajodha, S. J., Taylor, D. R., Ghataore, L., Taylor, N., Schubert, U., Storr, H. L., Druce, M. R., et al. (2018) · SSRN Electronic Journal · doi:10.2139/ssrn.3155848 · Cited by 1

Female Reproductive System

Dixon, D., Nikitin, A. Y., & Mahler, J. F. (2021) · doi:10.1002/9781119624608.ch19 · Cited by 1

Papel do LIN28, uma proteína ligadora de RNAs, na tumorigênese adrenocortical

Faria, A. M. (2014) · doi:10.11606/t.5.2014.tde-26022015-095301

Carcinoma corticoadrenal. Revisión de tema

Polanía, D., Linares, J. G., Linares, C. G., Ruiz, P. C., & Rivera, O. M. M. (2011) · Revista Med · doi:10.18359/rmed.1281

THE POSSIBILITIES AND MECHANISMS OF ACTION OF HORMONE THERAPY FOR CASTRATION-RESISTANT PROSTATE CANCER

Alekseev, B. Y., & Андрианов, А. Н. (2014) · Oncourology (Russian Society of Oncourologists) · doi:10.17650/1726-9776-2013-9-1-68-73

Tumors of the endocrine system

Chu, P. G., & Weiss, L. M. (2000) · Cambridge University Press eBooks · doi:10.1017/cbo9781316167366.005

Translational Aspects of the Endometriosis Epigenome

Colón-Caraballo, M., & Flores, I. (2018) · Elsevier eBooks · doi:10.1016/b978-0-12-812215-0.00023-6

Faire un garçon ou une fille

Manouvrier‐Hanu, S. (2012) · Elsevier eBooks · doi:10.1016/b978-2-294-70154-2.00001-7

A expressão dos marcadores de células-tronco, SF1 e DAX1 no desenvolvimento do córtex adrenal humano e sua associação com a via Wnt/beta-catenina na tumorigênese adrenocortical

Cavalcanti, M. M. (2018) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/t.17.2018.tde-24042018-164945

Faire un garçon ou une fille

Manouvrier‐Hanu, S. (2019) · Elsevier eBooks · doi:10.1016/b978-2-294-75965-9.00001-5

Pituitary adenoma: important genetic factors and clinical diagnostic issues

JUKNYTĖ, G., Karinauskė, E., & Liutkevičienė, R. (2021) · Neurologijos seminarai · doi:10.29014/ns.2021.10

Adrenal glands stem cells: general signaling pathways

Glazova, O., Vorontsova, M. V., Shevkova, L., Sakr, N., Onyanov, N., Kaziakhmedova, S., & Volchkov, P. (2021) · Problems of Endocrinology · doi:10.14341/probl12819

Steroidogenic Factor 1 (SF-1; NR5A1)

McElreavey, K., & Bashamboo, A. (2018) · Elsevier eBooks · doi:10.1016/b978-0-12-801238-3.65242-x

NR5a1

Grgurevič, N., & Majdič, G. (2016) · Springer eBooks · doi:10.1007/978-1-4614-6438-9_101872-1

NR5a1

Grgurevič, N., & Majdič, G. (2017) · Springer eBooks · doi:10.1007/978-3-319-67199-4_101872

Testis and Paratesticular Tissues

Wilkerson, M. L., & Liang Cheng, C. (2022) · Springer eBooks · doi:10.1007/978-3-030-83328-2_25

A Novel NR5A1 Mutation in a Thai Boy with 46, XY DSD

Wacharasindhu, S., Ittiwut, C., Ittiwut, R., Aroonparkmongkol, S., & Suphapeetiporn, K. (2023) · Journal of Pediatric Genetics · doi:10.1055/s-0043-1764480

Akr1b7 functions as a master regulator in ovarian agingPreprint

Isayama, K., Watanabe, K., Ohtsuka, M., Kimura, S., Murata, T., Honda, T., Asagiri, M., Sato, S., Tamura, H., Sugino, N., et al. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.08.09.552567

Translational aspects of the endometriosis epigenome

Colón-Caraballo, M., & Flores, I. (2023) · Elsevier eBooks · doi:10.1016/b978-0-443-21863-7.00008-1

Quando o circo atravessa a rua

Barreto, M. A. (2022) · doi:10.47749/t/unicamp.2022.1261340

Reproductive Organ Therapies

Quarde, A. (2023) · Wiley eBooks · doi:10.1002/9781119863564.ch6

Introductory Chapter: Progesterone

Wang, Z. (2024) · IntechOpen eBooks · doi:10.5772/intechopen.1006328

Spatial transcriptomics reveals modulation of transcriptional networks across brain regions after auditory threat conditioningPreprint

Otten, J., Dan, S., Rostin, L., Profetto, A., Lardenoije, R., & Klengel, T. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.09.25.614979

Estradiol affects the expression of essential molecular factors involved in luteinizing hormone secretion in the plains vizcacha

Proietto, S., Cortasa, S. A., Schmidt, A. R., Corso, M. C., Inserra, P. I. F., Giorgio, N. P. D., Lux-Lantos, V. A., Vitullo, A. D., Halperín, J., & Dorfman, V. B. (2024) · General and Comparative Endocrinology · doi:10.1016/j.ygcen.2024.114642

Maternal Exposure to an Environmentally Relevant Phthalate Mixture Modulates the Steroidogenic Genes in the Adrenal Glands Throughout Postnatal Development of Male Rats

Magosso, N. S. S., de Souza, P. V., de Aquino, A. M., Rocha, V. A., Fioretto, M. N., Costa, L. G. A., Campos, S. G. P., Barbisan, L. F., Justulin, L. A., Flaws, J. A., et al. (2025) · Environmental Toxicology · doi:10.1002/tox.24545

Transcription Factors in Leydig Cells

de Mattos, K., & Tremblay, J. (2025) · Springer eBooks · doi:10.1007/978-3-031-96376-6_9

Comprehensive structural, electronic, and in-silico characterization of 1-phenyl-5-(m-tolyl)-1H-tetrazole as a potential steroidogenic factor-1 (SF-1) inhibitor candidate

Dhanushchandraguru, H. M., Hemaraju, B. C., Chandramouli, M., Kumar, D., Chethan, B. S., Akhileshwari, P., Preetham, R., & Sadashiva, M. P. (2025) · Journal of Molecular Structure · doi:10.1016/j.molstruc.2025.143859

A Novel Variant in NR5A1 Resulting in Normosmic Hypogonadotropic Hypogonadism With Short Stature

Shah, S., Goswami, S., Sengupta, N., Baidya, A., Nanda, R., & Basu, R. (2025) · JCEM Case Reports · doi:10.1210/jcemcr/luaf213

Additional file 1 of Characteristics and possible mechanisms of 46, XY differences in sex development caused by novel compound variants in NR5A1 and MAP3K1

Cheng, Y., Chen, J., Zhou, X., Yang, J., Ji, Y., & Xu, C. (2021) · Figshare · doi:10.6084/m9.figshare.14767308

Steroidogenic factor 1 (SF-1)

McElreavey, K., & Bashamboo, A. (2026) · Elsevier eBooks · doi:10.1016/b978-0-443-13825-6.00372-1

Reduced Akr1b7 signaling drives ovarian aging and reproductive dysfunction

Isayama, K., Watanabe, K., Ohtsuka, M., Kimura, S., Murata, T., Honda, T., Asagiri, M., Sato, S., Tamura, H., Sugino, N., et al. (2026) · iScience · doi:10.1016/j.isci.2026.114719

Analyse des variations du nombre de copies d'ADN dans une cohorte d'hommes infertiles et génération de modèles génétiques d’étude de la méiose à partir de cellules iPS de patients infertiles

Mouka, A. (2017) · theses.fr (ABES) · doi:10.70675/75d2da80zc1ccz4c00zb5fbz93c990ea9a16

The adrenal cortex exhibits sexually dimorphic tissue renewal and disease development

Grabek, A. (2019) · theses.fr (ABES) · doi:10.70675/f21bb585zdf26z43f8zbfd6z687aea86457b

Rôle de NR5A1 dans le destin des cellules de Sertoli fœtales chez la souris

Souali‐Crespo, S. (2021) · theses.fr (ABES) · doi:10.70675/0221a4d3zfa87z4360zb881z4bea8d058b3e

Characterization of PR-Cre Activity in the Testis and Its Application Reveals BRG1 Is Dispensable in Adult Leydig Cells

Shi, H., Du, Y., Yu, L., Liu, A., Hou, C., Li, X., Li, J., Sun, W., Jin, Y., & Liu, Q. (2026) · Biomolecules · doi:10.3390/biom16060816

Functional and transcriptomic insights into 46,XY disorders of sex development associated with NR5A1 gene variants

Liu, Q., Zang, S., li, Y., Yin, X., & Li, P. (2026) · Biology of Sex Differences · doi:10.1186/s13293-026-00939-0

Rare pituitary diseases in dogs and cats and their human companions

van Stee, L. L., van der Steen, F. E. M. M., Galac, S., Kooistra, H. S., & Meij, B. P. (2026) · Rare Disease and Orphan Drugs Journal · doi:10.20517/rdodj.2025.78 · Cited by 2

Father and son with a pathogenic variant c.614dup p.(Gln206Thrfs*20) in the NR5A1 gene: a case report

Martinková, J., Mihulová, M., Balaščaková, M., Trachta, J., & Křepelová, A. (2026) · Frontiers in Pediatrics · doi:10.3389/fped.2026.1946666

Mechanisms underlying the cortisol response to acute warming in a freshwater teleost fish

Bard, B., Cooke, S. J., & Gilmour, K. M. (2026) · General and Comparative Endocrinology · doi:10.1016/j.ygcen.2026.115021

BindingDB Entry 50033219: Small molecule agonists of the orphan nuclear receptors steroidogenic factor-1 (SF-1, NR5A1) and liver receptor homologue-1 (LRH-1, NR5A2).

BindingDB (2011) · UC San Diego · doi:10.7270/q29z957p

Steroidogenic factor 1: an essential mediator of endocrine development. Recent Prog. Horm. Res

Parker, K. L., Rice, D. A., Lala, D. S., Ikeda, Y., Luo, X., Wong, M., Bakke, M., Zhao, L., Hanley, N. A., Stallings, N. R., et al. (2002)

Steroidogenic Factor 1: an Essential Mediator of Endocrine Development

Parker, K. L. (2002) · Recent Progress in Hormone Research · doi:10.1210/rp.57.1.19 · Cited by 346

The roles of the nuclear receptor steroidogenic factor 1 in endocrine differentiation and development

Parker, K. L., & Schimmer, B. P. (1996) · Trends in Endocrinology and Metabolism · doi:10.1016/1043-2760(96)00105-1 · Cited by 35

Steroidogenic factor 1 plays multiple roles in endocrine development and function.

Wong, M., Ikeda, Y., Luo, X., Caron, K. M., Weber, T. J., Swain, A., Schimmer, B. P., & Parker, K. L. (1997) · PubMed · Cited by 37

Steroidogenic Factor 1 Plays Key Roles in Adrenal and Gonadal Development and in Endocrine Function

Caron, K. M., Ikeda, Y., Luo, X., & Parker, K. L. (1999) · Humana Press eBooks · doi:10.1007/978-1-59259-693-5_4 · Cited by 1