ReviewFrontiers in endocrinology2024
Testicular differentiation in 46,XX DSD: an overview of genetic causes.
Review in Frontiers in endocrinology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed.
- Article
- Gonadoblastoma with Dysgerminoma in a Virilized Adolescent with Karyotype 46,XX: A Case Report and Review of the Literature.Journal of clinical research in pediatric endocrinology · 2026Review
- Prostatic development and verumontanum in a 46,XX karyotype : An embryological paradox redefining diagnostic algorithm for testicular DSD.Urology case reports · 2026Article
- Novel gene variants in a rare case of SRY-negative 46, XX male syndrome with bone marrow failure by whole exome sequencing.Blood science (Baltimore, Md.) · 2026Article
- Overexpression of SOX3 due to an X chromosome inversion leading to ovotesticular difference in sex development.Biology of sex differences · 2026Article
- Rare SRY-negative 46,XX disorder of sex development with male phenotype and ectopic gonads: a case report.Frontiers in endocrinology · 2026Article
- Cytogenomic Investigation of Individuals with Ovotesticular Difference of Sex Development.Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation · 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
- Genetic and epigenetic insights into non-obstructive azoospermia: mechanisms, biomarkers, and clinical perspectives.Reproductive biology and endocrinology : RB&E · 2025Review
- Retrospective analysis of children with 46,XX testicular/ovotesticular DSD: a 10-year single-center experience.Frontiers in endocrinology · 2025Article
- Suspected Ovotesticular Disorders of Sexual Differentiation in a Phenotypic Male With Ambiguous Genitalia, Light Menstrual Flow, and Synchronous Bilateral Dysgerminoma: A Case Report From Ethiopia.Case reports in pediatrics · 2025Article
- Article
Corrections and comments
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In mammals, the development of male or female gonads from fetal bipotential gonads depends on intricate genetic networks. Changes in dosage or temporal expression of sex-determining genes can lead to differences of gonadal development. Two rare conditions are associated with disruptions in ovarian determination, including 46,XX testicular differences in sex development (DSD), in which the 46,XX gonads differentiate into testes, and 46,XX ovotesticular DSD, characterized by the coexistence of ovarian and testicular tissue in the same individual. Several mechanisms have been identified that may contribute to the development of testicular tissue in XX gonads. This includes translocation of
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