46,XY ovotesticular disorder of sex development
Findings
No curated finding names 46,XY ovotesticular disorder of sex development yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
46,XY ovotesticular disorder of sex development is a rare, genetic disorder of sex development characterized by either the coexistence of both male and female reproductive gonads or, more frequently, by the presence of one or both gonads containing a mixture of both testicular and ovarian tissue (ovotestes) in an individual with a normal male 46, XY karyotype. External genitalia are usually ambiguous, but can range from normal male to normal female and if a uterus and/or fallopian tubes are present, they are generally hypoplastic. Cryptorchidism, hypospadias, infertility and increased risk of gonadal tumors are frequently associated.
Definition from the Mondo Disease Ontology (MONDO:0017968), read 2026-09-29. CC BY 4.0.
Features
19 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 clitoris morphologyHPOHP:0000056
- Very frequent (80% to 99% of cases)
- Abnormal labia morphologyHPOHP:0000058
- Very frequent (80% to 99% of cases)
- Abnormal sex determinationHPOHP:0012244
- Very frequent (80% to 99% of cases)
- Abnormality of prenatal development or birthHPOHP:0001197
- Very frequent (80% to 99% of cases)
- Abnormality of the female genitaliaHPOHP:0010460
- Very frequent (80% to 99% of cases)
- Abnormality of the male genitaliaHPOHP:0010461
- Very frequent (80% to 99% of cases)
Show the remaining 7
- True hermaphroditismHPOHP:0010459
- Very frequent (80% to 99% of cases)
- Urogenital sinus anomalyHPOHP:0100779
- Very frequent (80% to 99% of cases)
- ChordeeHPOHP:0000041
- Frequent (30% to 79% of cases)
- GonadoblastomaHPOHP:0000150
- Frequent (30% to 79% of cases)
- Hyperpigmented genitaliaHPOHP:0030258
- Frequent (30% to 79% of cases)
- EpispadiasHPOHP:0000039
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: 46,XY ovotesticular disorder of sex development
- Also called
- 46,XY ovotesticular DSD