ReviewBest practice & research. Clinical endocrinology & metabolism2015
DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease.
Review in Best practice & research. Clinical endocrinology & metabolism, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 99 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
99 citing papers in PubMed, 1 synthesis or guideline pooled it, 224 citations in OpenAlex.
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- Review
- Identification of gene variants in 30 patients from southeastern China with severe hypospadias by whole-exome sequencing.Asian journal of andrology · 2026Article
- Multigenerational evidence of X-linked adrenal hypoplasia congenita due to a novel NR0B1 frameshift.Human genomics · 2026Article
- Potential endogenous lipid ligands for the nuclear receptor transcription factor Steroidogenic Factor-1.Advances in biological regulation · 2026Review
- Father and son with a pathogenic variant c.614dup p.(Gln206Thrfs*20) in theFrontiers in pediatrics · 2026Article
- Selection for Tameness in Red Junglefowl Recapitulates Genetic Loci Associated With Domestication-Related Brain Composition.Molecular ecology · 2025Article
- Clinical Spectrum, Surgical Management, and Outcomes ofMedicina (Kaunas, Lithuania) · 2025Review
- Delayed Diagnosis of X-Linked Adrenal Hypoplasia Congenita in a Boy with a NovelChildren (Basel, Switzerland) · 2025Article
- Severe neonatal presentation of Xp21 contiguous gene deletion: adrenal crisis and neuromuscular involvement.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2025Article
- Unraveling the genetic and pathophysiological mechanisms underlying disorders of sex development.Intractable & rare diseases research · 2025Review
- Adrenocortical stem cells in health and disease.Nature reviews. Endocrinology · 2025Review
- Zglp-1 is a novel essential transcriptional regulator for sex reversal in zebrafish.Marine life science & technology · 2025Article
- Unique Case Report: A Rare Association of 21-Hydroxylase Deficiency with Triple X Karyotype.Genes · 2025Article
- Early genetic sequencing in neonates with hyperkalemia: a retrospective cross-sectional study.Translational pediatrics · 2025Article
- Fluoride-induced testicular and ovarian toxicity: evidence from animal studies.Biological research · 2025Review
- Case Report - Severe hypospadias in 46, XY karyotype patients: is third level genetic testing always mandatory?Frontiers in surgery · 2025Article
39 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
4 authors at 1 institution in 1 country.
Funding
Abstract
DAX-1 (NR0B1) and SF-1 (NR5A1) are two nuclear receptor transcription factors that play a key role in human adrenal and reproductive development. Loss of DAX-1 function is classically associated with X-linked adrenal hypoplasia congenita. This condition typically affects boys and presents as primary adrenal insufficiency in early infancy or childhood, hypogonadotropic hypogonadism at puberty and impaired spermatogenesis. Late onset forms of this condition and variant phenotypes are increasingly recognized. In contrast, disruption of SF-1 only rarely causes adrenal insufficiency, usually in combination with testicular dysgenesis. Variants in SF-1/NR5A1 more commonly cause a spectrum of reproductive phenotypes ranging from 46,XY DSD (partial testicular dysgenesis or reduced androgen production) and hypospadias to male factor infertility or primary ovarian insufficiency. Making a specific diagnosis of DAX-1 or SF-1 associated conditions is important for long-term monitoring of endocrine and reproductive function, appropriate genetic counselling for family members, and for providing appropriate informed support for young people.
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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.