46,XY partial gonadal dysgenesis
ORPHA: 251510
Available Treatments (0)
No treatments linked yet
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Clinical Presentation
Signs and symptoms associated with 46,XY partial gonadal dysgenesis, sourced from HPO and Orphanet clinical annotations.
Male infertilityDecreased serum estradiolElevated circulating follicle stimulating hormone levelClitoral hypertrophyHypoplasia of the vaginaFemale external genitalia in individual with 46,XY karyotypeDecreased testicular sizeHypoplasia of penisStreak ovaryElevated circulating luteinizing hormone levelAbnormal sex determinationVanishing testisDecreased serum testosterone concentrationUrogenital sinus anomalyCryptorchidismGonadoblastomaDelayed pubertyTesticular gonadoblastomaOvarian gonadoblastomaAdrenal insufficiencyDelayed skeletal maturationAbsence of secondary sex characteristicsPrimary gonadal insufficiencyNephrotic syndromeNephroblastomaAbnormal cardiovascular system morphologyAzoospermiaAbnormal scrotum morphologyHypospadiasMicropenisAbnormal labia morphologyAmbiguous genitaliaGonadal dysgenesisAbnormal vagina morphologyGynecomastiaPrimary amenorrheaAbnormal internal genitaliaHypergonadotropic hypogonadismIncreased circulating gonadotropin levelDecreased fertility in femalesOsteoporosisSparse axillary hairSparse pubic hair
Classification & Codes
Orphanet Code
ORPHA:25151046,XY partial gonadal dysgenesis
| Orphanet | ORPHA:251510 |
| Treatments | 0 drug(s) |
| Symptoms on record | 43 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO