46,XY disorder of sex development due to isolated 17,20-lyase deficiency
ORPHA: 90796
Overview
human disease
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 46,XY disorder of sex development due to isolated 17,20-lyase deficiency, sourced from HPO and Orphanet clinical annotations.
Hypoplasia of the uterusHypospadiasMicropenisDecreased fertilityPolycystic ovariesPrimary amenorrheaHypergonadotropic hypogonadismDelayed pubertyOsteoporosisSparse axillary hairSparse pubic hairSparse body hairDelayed skeletal maturationReduced bone mineral densityAbsence of secondary sex characteristicsPrimary gonadal insufficiencyDecreased serum estradiolElevated circulating follicle stimulating hormone levelEnlarged polycystic ovariesElevated circulating luteinizing hormone levelAbnormal circulating corticosterone levelDecreased circulating androgen concentrationDecreased serum testosterone concentrationDysmenorrheaCryptorchidismDecreased fertility in femalesShort statureHypoplasia of the vaginaDecreased testicular sizeDecreased fertility in malesAmbiguous genitalia, maleMale pseudohermaphroditismGynecomastiaFailure to thriveFemale external genitalia in individual with 46,XY karyotypeAbnormal sex determination
Classification & Codes
Orphanet Code
ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiency
| Orphanet | ORPHA:90796 |
| Treatments | 0 drug(s) |
| Symptoms on record | 36 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO