46,XX ovotesticular disorder of sex development
Findings
No curated finding names 46,XX ovotesticular disorder of sex development yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0016281), read 2026-09-29. CC BY 4.0.
Features
14 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal male internal genitalia morphologyHPOHP:0000022
- Very frequent (80% to 99% of cases)
- Abnormal morphology of female internal genitaliaHPOHP:0000008
- Very frequent (80% to 99% of cases)
- Abnormal scrotal rugationHPOHP:0012856
- Very frequent (80% to 99% of cases)
- Abnormality of the uterusHPOHP:0000130
- Very frequent (80% to 99% of cases)
- Ambiguous genitaliaHPOHP:0000062
- Very frequent (80% to 99% of cases)
- Bifid scrotumHPOHP:0000048
- Very frequent (80% to 99% of cases)
- CryptorchidismHPOHP:0000028
- Very frequent (80% to 99% of cases)
- Decreased fertilityHPOHP:0000144
- Very frequent (80% to 99% of cases)
- Hypoplasia of penisHPOHP:0008736
- Very frequent (80% to 99% of cases)
- HypospadiasHPOHP:0000047
- Very frequent (80% to 99% of cases)
- Polycystic ovariesHPOHP:0000147
- Very frequent (80% to 99% of cases)
- Small scrotumHPOHP:0000046
- Very frequent (80% to 99% of cases)
Show the remaining 2
- True hermaphroditismHPOHP:0010459
- Very frequent (80% to 99% of cases)
- Urogenital sinus anomalyHPOHP:0100779
- Very frequent (80% to 99% of cases)
Genes
4 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
- A kind of
Other names
4 names
Resolves to: 46,XX ovotesticular disorder of sex development
- Also called
- 46,XX ovotesticular DSDovotesticular differences of sex developmentovotesticular disorders of sex developmentovotesticular DSD