ReviewSexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation2008
Steroidogenic factor-1 (SF-1, Ad4BP, NR5A1) and disorders of testis development.
Review in Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 75 papers, 1 of them a synthesis 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.
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Who cites it
75 citing papers in PubMed, 1 synthesis or guideline pooled it, 184 citations in OpenAlex.
- Pooled it
- Molecular analysis of individuals with suspected 46,XY differences of sex development in a homogenous and understudied population.Human molecular genetics · 2026Article
- Identification and Functional Characteristics ofGenes · 2026Article
- The intersection of disorders of sex development and cardiovascular diseases.Biology of sex differences · 2026Review
- Father and son with a pathogenic variant c.614dup p.(Gln206Thrfs*20) in theFrontiers in pediatrics · 2026Article
- Splenic structural and functional abnormalities in individuals with NR5A1/SF-1 variants.Endocrine connections · 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
- Genetic variants and molecular profiling of 46,XY gonadal dysgenesis using whole-exome sequencing.Frontiers in endocrinology · 2025Article
- Article
- A NovelJournal of pediatric genetics · 2024Article
- Testicular differentiation in 46,XX DSD: an overview of genetic causes.Frontiers in endocrinology · 2024Review
- Steroidogenic Factor-1 form and function: From phospholipids to physiology.Advances in biological regulation · 2024Review
- Phenotype-Genotype Discordance and a Case of a Disorder of Sexual Differentiation.Case reports in genetics · 2024Article
- 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
- Phenotype and genetic characteristics in 20 Chinese patients with 46,XY disorders of sex development.Journal of endocrinological investigation · 2023Article
- The Effects of Chronic Lead Exposure on Testicular Development of Japanese Quail (Coturnix japonica): Histopathological Damages, Oxidative Stress, Steroidogenesis Disturbance, and Hypothalamus-Pituitary-Testis Axis Disruption.Biological trace element research · 2023Article
- Steroidogenic Factor 1, a Goldilocks Transcription Factor from Adrenocortical Organogenesis to Malignancy.International journal of molecular sciences · 2023Review
- Intrauterine Hyponutrition Reduces Fetal Testosterone Production and Postnatal Sperm Count in the Mouse.Journal of the Endocrine Society · 2022Article
- Sex-specific splicing of Z- and W-borneProceedings of the National Academy of Sciences of the United States of America · 2022Article
- A novel variant of NR5A1, p.R350W implicates potential interactions with unknown co-factors or ligands.Frontiers in endocrinology · 2022Article
15 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
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 regulates many aspects of adrenal and reproductive development and function. Consequently, deletion of the gene (Nr5a1) encoding Sf-1 in XY mice results in impaired adrenal development, complete testicular dysgenesis with Mullerian structures, and female external genitalia. Initial efforts to identify NR5A1 changes in humans focused on 46,XY individuals with combined adrenogonadal failure and Mullerian structures. Although this combination of clinical features is rare, 2 such patients harboring NR5A1 mutations have been described within the past decade. More recently, however, it has emerged that heterozygous loss of function mutations in NR5A1 can be found relatively frequently in children and adults with 46,XY disorders of sex development (DSD) but with apparently normal adrenal function. The phenotypic spectrum associated with these changes ranges from complete testicular dysgenesis with Mullerian structures, through individuals with mild clitoromegaly or genital ambiguity, to severe penoscrotal hypospadias or even anorchia. Furthermore, a non-synonymous polymorphism in NR5A1 may be associated with micropenis or undescended testes within the population. Taken together, these reports suggest that variable loss of SF-1 function can be associated with a wide range of reproductive phenotypes in humans.
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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.