ORPHA:2138
46,XX ovotesticular difference of sex development
Also known as: 46,XX ovotesticular DSD · 46,XX ovotesticular disorder of sex development
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
751
87.9th percentile
Trials
0
Interventional, condition-specific
Researchers
1,166
Distinct authors in sample
Gene link
SOX3
Limited
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare difference of sex development (DSD) characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype.
How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0016281
- MeSH:D050090
- UMLS:C5679613
- NCIT:C127167
Additional Mondo synonyms (3)
ovotesticular DSD · ovotesticular differences of sex development · ovotesticular disorders of sex development
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Limited — SOX3
- LiteraturePresent
751 matched papers (394 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Possibly — only limited evidence so far for SOX3.
GenCC classification: Limited.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
751
751 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
751 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
394 in the last 10 years · high confidence · 87.9th percentile (publications denominator)
Phrase hits: 751 · MeSH hits: 0
Who's working on it?
1,166
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Maciel-Guerra AT7 papers · 2026
Interdisciplinary Group for the Study of Sex Determination and Differentiation (GIEDDS), State University of Campinas (UNICAMP), Campinas, Brazil.
Papers in Europe PMC - 02Rey RA7 papers · 2022
Centro de Investigaciones Endocrinológicas "Dr. César Bergadá" (CEDIE), CONICET-FEI-División de Endocrinología, Hospital de Niños Ricardo Gutiérrez, Buenos Aires, Argentina.
Papers in Europe PMC - 03McElreavey K6 papers · 2024
Human Developmental Genetics Unit, CNRS UMR 3738, Institut Pasteur, 75015, Paris, France.
Papers in Europe PMC - 04Achermann JC5 papers · 2020
Genetics & Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, UK.
Papers in Europe PMC - 05Li Y5 papers · 2025
University of California, Department of Urology, 550 16th St, 5th Floor, Mission Hall Pediatric Urology, San Francisco, CA, 94158, USA.
Papers in Europe PMC - 06Barros BA4 papers · 2026
Interdisciplinary Group for the Study of Sex Determination and Differentiation (GIEDDS), State University of Campinas (UNICAMP), Campinas, Brazil.
Papers in Europe PMC - 07Cao M4 papers · 2025
University of California, Department of Urology, 550 16th St, 5th Floor, Mission Hall Pediatric Urology, San Francisco, CA, 94158, USA.
Papers in Europe PMC - 08Cools M4 papers · 2026
Department of Pediatrics, Division of Pediatric Endocrinology, Ghent University Hospital and Ghent University, Ghent, Belgium.
Papers in Europe PMC - 09Fabbri-Scallet H4 papers · 2026
Center for Molecular Biology and Genetic Engineering (CBMEG), State University of Campinas (UNICAMP), Campinas, Brazil.
Papers in Europe PMC - 10Guaragna MS4 papers · 2026
Center for Molecular Biology and Genetic Engineering (CBMEG), State University of Campinas (UNICAMP), Campinas, Brazil.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"46,XX ovotesticular difference of sex development" OR "46,XX ovotesticular difference of the sex development" OR "46,XX ovotesticular DSD" OR "46,XX ovotesticular disorder of sex development" OR "46,XX ovotesticular disorder of the sex development" OR "ovotesticular DSD" OR "ovotesticular differences of sex development" OR "ovotesticular differences of the sex development" OR "ovotesticular disorders of sex development" OR "ovotesticular disorders of the sex development"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"46,XX ovotesticular difference of sex development" OR "46,XX ovotesticular difference of the sex development" OR "46,XX ovotesticular DSD" OR "46,XX ovotesticular disorder of sex development" OR "46,XX ovotesticular disorder of the sex development" OR "ovotesticular DSD" OR "ovotesticular differences of sex development" OR "ovotesticular differences of the sex development" OR "ovotesticular disorders of sex development" OR "ovotesticular disorders of the sex development" OR "SOX3"
Recall-expansion terms: SOX3
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T19:15:56.336Z