45,X/46,XY mixed gonadal dysgenesis
MONDO:0015779Mondo
Findings
No curated finding names 45,X/46,XY mixed gonadal dysgenesis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development.
Definition from the Mondo Disease Ontology (MONDO:0015779), read 2026-09-29. CC BY 4.0.
Features
60 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.
- CryptorchidismHPOHP:0000028
- Very frequent (80% to 99% of cases)
- Muscle hypertrophy of the lower extremitiesHPOHP:0008968
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Unilateral cryptorchidismHPOHP:0012741
- Very frequent (80% to 99% of cases)
- Abnormal internal genitaliaHPOHP:0000812
- Frequent (30% to 79% of cases)
- Ambiguous genitaliaHPOHP:0000062
- Frequent (30% to 79% of cases)
- Ambiguous genitalia, femaleHPOHP:0000061
- Frequent (30% to 79% of cases)
- Ambiguous genitalia, maleHPOHP:0000033
- Frequent (30% to 79% of cases)
- AzoospermiaHPOHP:0000027
- Frequent (30% to 79% of cases)
- Bilateral cryptorchidismHPOHP:0008689
- Frequent (30% to 79% of cases)
- HypospadiasHPOHP:0000047
- Frequent (30% to 79% of cases)
- Increased circulating gonadotropin levelHPOHP:0000837
- Frequent (30% to 79% of cases)
Show the remaining 48
- Male infertilityHPOHP:0003251
- Frequent (30% to 79% of cases)
- MicropenisHPOHP:0000054
- Frequent (30% to 79% of cases)
- Penoscrotal hypospadiasHPOHP:0000808
- Frequent (30% to 79% of cases)
- Urogenital sinus anomalyHPOHP:0100779
- Frequent (30% to 79% of cases)
- Abnormal cardiovascular system morphologyHPOHP:0030680
- Occasional (5% to 29% of cases)
- Abnormal scrotum morphologyHPOHP:0000045
- Occasional (5% to 29% of cases)
Where it sits
Other names
6 names
Resolves to: 45,X/46,XY mixed gonadal dysgenesis
- Also called
- 45,X/46,XY disorder of Sex development45,X/46,XY gonadal dysgenesis45,X/46,XY MGD45,X0/46,XY MGD45,X0/46,XY mixed gonadal dysgenesisXY/X0