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46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype.
Biomarker and diagnostic research for 46,XX ovotesticular disorder of sex development has been reported in the published literature.
Estimated prevalence: 1-9 in 100,000 (Uncommon).
1 clinical trial registered, 1 recruiting. Interventions under study include procedural interventions. Research is primarily sponsored by academic and government institutions.
29 publications have been identified in PubMed for 46,XX ovotesticular disorder of sex development. Research spans Case Report / Case Series (45%), Diagnostic / Biomarker (14%), and Review / Meta-Analysis (14%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 13 |
Data assembled from 4 of 12 sources · Last updated Sep 21, 2026, 8:34 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Testing and diagnosis research | 4 | 14% |
Research summaries | 4 | 14% |
Laboratory research | 4 | 14% |
Disease patterns and progression | 3 | 10% |
Other research | 1 | 3% |
Mehta N (2026). [PMID: 41842929](https://pubmed.ncbi.nlm.nih.gov/41842929/). *J Pediatr Endocrinol Metab*. [Epidemiology / Natural History]
Lima-Santos J (2026). [PMID: 42048305](https://pubmed.ncbi.nlm.nih.gov/42048305/). *Sex Dev*. [Epidemiology / Natural History]
Nascimento-Vidoti CG (2026). [PMID: 41680906](https://pubmed.ncbi.nlm.nih.gov/41680906/). *Biol Sex Differ*. [Case Report / Case Series]
Fabbri-Scallet H (2026). [PMID: 41688582](https://pubmed.ncbi.nlm.nih.gov/41688582/). *Sci Rep*. [Case Report / Case Series]
Bahmad HF (2026). [PMID: 42168620](https://pubmed.ncbi.nlm.nih.gov/42168620/). *Virchows Arch*. [Diagnostic / Biomarker]
Sepich M (2026). [PMID: 41183501](https://pubmed.ncbi.nlm.nih.gov/41183501/). *J Clin Endocrinol Metab*. [Epidemiology / Natural History]
Raithatha D (2026). [PMID: 41831161](https://pubmed.ncbi.nlm.nih.gov/41831161/). *Indian J Pediatr*. [Diagnostic / Biomarker]
Syryn H (2025). [PMID: 40602781](https://pubmed.ncbi.nlm.nih.gov/40602781/). *J Clin Endocrinol Metab*. [Case Report / Case Series]
Xue Y (2025). [PMID: 40248274](https://pubmed.ncbi.nlm.nih.gov/40248274/). *Gynecol Oncol Rep*. [Case Report / Case Series]
Siferih M (2025). [PMID: 40546337](https://pubmed.ncbi.nlm.nih.gov/40546337/). *Case Rep Pediatr*. [Case Report / Case Series]
AI-curated news mentioning 46,XX ovotesticular disorder of sex development
Updated Jul 24, 2026
A recent study reviews a decade of prenatal care for disorders and differences of sex development, providing insights into management and outcomes. This analysis from an expert center highlights evolving practices and patient experiences.