ArticleEBioMedicine2024
Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development.
Article in EBioMedicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 36 citations in OpenAlex.
- Phenotyping and hierarchical clustering in genetically unresolved DSD identifies distinct multisystem clinical subgroups-a DSDgene study.Journal of the Endocrine Society · 2026Article
- Molecular analysis of individuals with suspected 46,XY differences of sex development in a homogenous and understudied population.Human molecular genetics · 2026Article
- Winter-associated downregulation of ovarian NR5A2 correlates with impaired follicle development in the striped hamster (Cricetulus barabensis).Scientific reports · 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
- Comprehensively identifying and validating the implications of NR5A1 and DHX37 variants for 46,XY disorders of sex development diagnosis.BMC medical genomics · 2026Article
- Severe Hyperandrogenism Revealing a 46,XY Disorder of Sex Development Due to a Novel NR5A1 Mutation.Cureus · 2026Article
- From Genes to Lives: Integrating the Complexities of Primary Ovarian Insufficiency.International journal of molecular sciences · 2026Review
- Article
- Molecular Diagnosis of 46,XY Disorders of Sex Development: An Efficient Initial Molecular Analysis Using a Custom-Designed Targeted Gene Panel in a Single-Center Study.Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation · 2026Article
- Splenic structural and functional abnormalities in individuals with NR5A1/SF-1 variants.Endocrine connections · 2025Article
- Close relationship, similar phenotype of GATA4 and NR5A1 mutations: gonadal dysgenesis and puberty development.Journal of endocrinological investigation · 2025Article
- Clinical Spectrum, Surgical Management, and Outcomes ofMedicina (Kaunas, Lithuania) · 2025Review
- Two Cases of 46,XY Differences of Sex Development Due to Gonadal Dysgenesis Associated With NovelJCEM case reports · 2025Article
- DHX37 variants in patients with 46,XY disorders or differences of sex development.Human genome variation · 2025Article
- Differences of sex development.Nature reviews. Disease primers · 2025Review
- Review
- Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next study.EBioMedicine · 2025Article
- Characterization of 35 Novel NR5A1/SF-1 Variants Identified in Individuals With Atypical Sexual Development: The SF1next Study.The Journal of clinical endocrinology and metabolism · 2025Article
- Molecular genetic diagnosis and surgical management in a cohort of children with 46,XY disorders/differences of sex development.Frontiers in pediatrics · 2025Article
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Authors and funding
9 authors at 3 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSteroidogenic factor 1 (SF-1/NR5A1) is essential for human sex development. Heterozygous NR5A1/SF-1 variants manifest with a broad range of phenotypes of differences of sex development (DSD), which remain unexplained.
methodsWe conducted a retrospective analysis on the so far largest international cohort of individuals with NR5A1/SF-1 variants, identified through the I-DSD registry and a research network.
findingsAmong 197 individuals with NR5A1/SF-1 variants, we confirmed diverse phenotypes. Over 70% of 46, XY individuals had a severe DSD phenotype, while 90% of 46, XX individuals had female-typical sex development. Close to 100 different novel and known NR5A1/SF-1 variants were identified, without specific hot spots. Additionally, likely disease-associated variants in other genes were reported in 32 individuals out of 128 tested (25%), particularly in those with severe or opposite sex DSD phenotypes. Interestingly, 48% of these variants were found in known DSD or SF-1 interacting genes, but no frequent gene-clusters were identified. Sex registration at birth varied, with <10% undergoing reassignment. Gonadectomy was performed in 30% and genital surgery in 58%. Associated organ anomalies were observed in 27% of individuals with a DSD, mainly concerning the spleen. Intrafamilial phenotypes also varied considerably.
interpretationThe observed phenotypic variability in individuals and families with NR5A1/SF-1 variants is large and remains unpredictable. It may often not be solely explained by the monogenic pathogenicity of the NR5A1/SF-1 variants but is likely influenced by additional genetic variants and as-yet-unknown factors.
fundingSwiss National Science Foundation (320030-197725) and Boveri Foundation Zürich, Switzerland.
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