46,XX testicular disorder of sex development
MONDO:0100249Mondo
Findings
No curated finding names 46,XX testicular disorder of sex development yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency.
Definition from the Mondo Disease Ontology (MONDO:0100249), read 2026-09-29. CC BY 4.0.
Features
4 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.
- Ambiguous genitaliaHPOHP:0000062
- Very frequent (80% to 99% of cases)
- Decreased testicular sizeHPOHP:0008734
- Very frequent (80% to 99% of cases)
- Male hypogonadismHPOHP:0000026
- Very frequent (80% to 99% of cases)
- Polycystic ovariesHPOHP:0000147
- Very frequent (80% to 99% of cases)
Where it sits
- A kind of
Other names
5 names
Resolves to: 46,XX testicular disorder of sex development
- Also called
- 46,XX testicular differences of sex development46,XX testicular disorders of Sex development46,XX testicular DSDDe la Chapelle syndromeXX, male syndrome