ReviewFrontiers in genetics2024
Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants.
Review in Frontiers in genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed.
- Characterizing 46,XY Differences of Sex Development: Novel Genetic Variants and Diagnostic Pitfalls in a Single-Center Cohort.Biochemical genetics · 2026Article
- Molecular analysis of individuals with suspected 46,XY differences of sex development in a homogenous and understudied population.Human molecular genetics · 2026Article
- Revisiting the dual role of androgens and oestrogens in mammalian sex differentiation with a focus on genitalia.Nature reviews. Urology · 2026Review
- Refining the diagnosis of 46,XY disorders of sex development: insight from whole-exome sequencing.Orphanet journal of rare diseases · 2026Article
- Canine XX Disorders/Differences of Sex Development (SRY-Negative): A Potential Role for theSexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation · 2026Review
- Close relationship, similar phenotype of GATA4 and NR5A1 mutations: gonadal dysgenesis and puberty development.Journal of endocrinological investigation · 2025Article
- Beyond Gender Binarism: Implications of Sex-Gender Diversity for Health Equity.Healthcare (Basel, Switzerland) · 2025Article
- A novel variant in theMolecular medicine reports · 2025Article
- Gene therapy for disorders of sex development: current applications and future challenges.Frontiers in genetics · 2025Review
- Molecular genetic diagnosis and surgical management in a cohort of children with 46,XY disorders/differences of sex development.Frontiers in pediatrics · 2025Article
- Fair and Safe Eligibility Criteria for Women's Sport: The Proposed Testing Regime Is Not Justified, Ethical, or Viable.Scandinavian journal of medicine & science in sports · 2024Article
Corrections and comments
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Differences/disorders of sex development (DSDs) in individuals with a 46, XY karyotype are a group of congenital disorders that manifest as male gonadal hypoplasia or abnormalities of the external genitalia. Approximately 50% of patients with 46, XY DSDs cannot obtain a molecular diagnosis. The aims of this paper were to review the most common causative genes and rare genes in patients with 46, XY DSDs, analyze global molecular diagnostic cohorts for the prevalence and geographic distribution of causative genes, and identify the factors affecting cohort detection results. Although the spectrum of genetic variants varies across regions and the severity of the clinical phenotype varies across patients, next-generation sequencing (NGS), the most commonly used detection method, can still reveal genetic variants and aid in diagnosis. A comparison of the detection rates of various sequencing modalities revealed that whole-exome sequencing (WES) facilitates a greater rate of molecular diagnosis of the disease than panel sequencing. Whole-genome sequencing (WGS), third-generation sequencing, and algorithm advancements will contribute to the improvement of detection efficiency. The most commonly mutated genes associated with androgen synthesis and action are
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