ReviewSeminars in reproductive medicine2012
Steroidogenic factor-1 and human disease.
Review in Seminars in reproductive medicine, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
32 citing papers in PubMed, 2 syntheses or guidelines pooled it, 71 citations in OpenAlex.
- Ovarian absence: a systematic literature review and case series report.Journal of ovarian research · 2023Pooled it
- Clinicopathological significance of steroidogenic factor-1 expression in ovarian cancer versus ovarian sex cord stromal tumor.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2015Pooled it
- Trimester Specific Anatomical and Histological Characterization of Testicular Descent and Development in Sheep Foetuses.Veterinary medicine and science · 2026Article
- Functional and transcriptomic insights into 46,XY disorders of sex development associated with NR5A1 gene variants.Biology of sex differences · 2026Article
- Spectrum and genotype-phenotype correlation of NR5A1 variants in 46,XY DSD: a systematic review and meta-analysis.Endocrine connections · 2026Article
- Beyond Gender Binarism: Implications of Sex-Gender Diversity for Health Equity.Healthcare (Basel, Switzerland) · 2025Article
- CRISPR/Cas9-mediated activation of NR5A1 steers female human embryonic stem cell-derived bipotential gonadal-like cells towards a steroidogenic cell fate.Journal of ovarian research · 2023Article
- Novel likely pathogenic variant in NR5A1 gene in a Tanzanian child with 46,XY differences of sex development, inherited from the mosaic father.Endocrinology, diabetes & metabolism case reports · 2023Article
- Case Report: Longitudinal follow-up and testicular sperm extraction in a patient with a pathogenicFrontiers in endocrinology · 2023Article
- Transcriptional control of human gametogenesis.Human reproduction update · 2022Article
- Pubertal development in 46,XY patients with NR5A1 mutations.Endocrine · 2022Article
- Neurofibromatosis Type 1 and Hypospadias in a Male 46, XY with a Mutation in thePharmacogenomics and personalized medicine · 2022Article
- Association of polymorphic variants in GEMIN genes with the risk of depression in a Polish population.PeerJ · 2022Article
- Regulation of male fertility and accessory gland gene expression by the Drosophila HR39 nuclear receptor.Developmental biology · 2021Article
- Mutation of c.244G>T in NR5A1 gene causing 46, XY DSD by affecting RNA splicing.Orphanet journal of rare diseases · 2021Article
- Gonadotroph tumours with a low SF-1 labelling index are more likely to recur and are associated with enrichment of the PI3K-AKT pathway.Neuropathology and applied neurobiology · 2021Article
- Dog Steroidogenic Factor-1: Molecular cloning and analysis of epigenetic regulation.The Journal of veterinary medical science · 2020Article
- Primary Aldosteronism Associated with Multiple Adrenocortical Micronodules in a Patient with Renal Cell Carcinoma.Case reports in endocrinology · 2020Article
- Genetics of human female infertility†.Biology of reproduction · 2019Review
- Steroidogenic Factor 1 (Nr5a1) is Required for Sertoli Cell Survival Post Sex Determination.Scientific reports · 2019Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Steroidogenic factor-1 (SF-1) (Ad4BP, NR5A1) is a nuclear receptor that plays a key role in adrenal and reproductive development and function. Deletion of the gene encoding Sf-1 (Nr5a1) in mice results in severe developmental defects of the adrenal gland and gonad. Consequently, initial work on the potential effects of SF-1 disruption in humans focused on individuals with primary adrenal failure, a 46,XY karyotype, complete gonadal dysgenesis, and Müllerian structures. This is a rare phenotype, but has been reported on two occasions, because of alterations that affect key DNA-binding domains of SF-1. Attention then turned to a potential wider role of SF-1 in human adrenal and reproductive disorders. Although changes in SF-1 only very rarely cause isolated adrenal failure, it is emerging that variations in SF-1 are a surprisingly frequent cause of reproductive dysfunction in humans. In 46,XY disorders of sex development, a spectrum of phenotypes has been reported including severe and partial forms of gonadal (testicular) dysgenesis, hypospadias, anorchia with microphallus, and even male factor infertility. In 46,XX females, alterations in SF-1 are associated with primary ovarian insufficiency. Thus, SF-1 seems be a more significant factor in human reproductive health than was first envisioned, with implications for adults as well as children.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.