inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
ORPHA: 289548
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 inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency, sourced from HPO and Orphanet clinical annotations.
CryptorchidismAmbiguous genitalia, maleMale pseudohermaphroditismRenal salt wastingDecreased fertilityAplasia of the uterusGynecomastiaDelayed pubertyIncreased circulating renin concentrationOsteoporosisAbnormality of prenatal development or birthAgenesis of corpus callosumFailure to thriveAcidosisDehydrationNeonatal hypoglycemiaVomitingHyperkalemiaHypotensionDelayed skeletal maturationHyponatremiaAbnormal circulating cholesterol concentrationIncreased circulating ACTH levelDecreased circulating aldosterone concentrationReduced bone mineral densityGeneralized hyperpigmentationGeneralized bronze hyperpigmentationDecreased circulating cortisol levelAbsence of secondary sex characteristicsPrimary adrenal insufficiencyFemale external genitalia in individual with 46,XY karyotypeDecreased testicular sizeAbnormality of the Leydig cellsHypovolemiaAdrenocorticotropic hormone excessFeeding difficultiesAbnormal sex determinationSex reversalAbnormal urine potassium concentrationHypernatriuriaDecreased circulating androgen concentrationInduced vaginal deliveryUrogenital sinus anomalyAdrenal hypoplasiaPremature birthElevated circulating follicle stimulating hormone levelElevated circulating luteinizing hormone levelAbnormal vagina morphologyClitoral hypertrophyAdrenal calcificationMidshaft hypospadias
Classification & Codes
Orphanet Code
ORPHA:289548inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
| Orphanet | ORPHA:289548 |
| Treatments | 0 drug(s) |
| Symptoms on record | 51 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO