mixed gonadal dysgenesis X0/XY
MeSH: D006060ORPHA: 1772
Overview
intersex variation
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with mixed gonadal dysgenesis X0/XY, sourced from HPO and Orphanet clinical annotations.
CryptorchidismShort statureMuscle hypertrophy of the lower extremitiesUnilateral cryptorchidismAzoospermiaAmbiguous genitalia, maleHypospadiasMicropenisAmbiguous genitalia, femaleAmbiguous genitaliaPenoscrotal hypospadiasAbnormal internal genitaliaIncreased circulating gonadotropin levelMale infertilityBilateral cryptorchidismUrogenital sinus anomalyEpispadiasChordeeAbnormal scrotum morphologyBifid scrotumAbnormality of the kidneyHorseshoe kidneyGonadoblastomaHigh palateEpicanthusMicrognathiaHearing impairmentRecurrent otitis mediaWebbed neckVisual impairmentNystagmusAutistic behaviorPectus excavatumGynecomastiaHypothyroidismDelayed pubertyDevelopmental glaucomaMild intellectual disabilityObesityBicuspid aortic valveTachycardiaProlonged QT intervalCoarctation of aortaHallux valgusLow posterior hairlineNail dysplasiaDyscalculiaScoliosisDelayed skeletal maturationCubitus valgusWide intermamillary distanceShort 4th metacarpalStreak ovaryShort metatarsalOvotestisOvarian serous cystadenomaCervix cancerAbnormal cardiovascular system morphologyDecreased serum testosterone concentrationPosteriorly rotated ears
Classification & Codes
MeSH Code
D006060Orphanet Code
ORPHA:1772mixed gonadal dysgenesis X0/XY
| MeSH | D006060 |
| Orphanet | ORPHA:1772 |
| Treatments | 0 drug(s) |
| Symptoms on record | 60 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO