congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency
ORPHA: 90793
Overview
medical condition
Available Treatments (0)
No treatments linked yet
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Clinical Presentation
Signs and symptoms associated with congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency, sourced from HPO and Orphanet clinical annotations.
HypertensionIncreased circulating gonadotropin levelCongenital adrenal hyperplasiaAbnormal response to ACTH stimulation testIncreased urinary 11-deoxycorticosterone levelIncreased circulating corticosterone levelDecreased serum testosterone concentrationAbnormal circulating dehydroepiandrosterone concentrationMale hypogonadismHypospadiasOvarian cystDecreased fertilityGynecomastiaPrimary amenorrheaDelayed pubertyIrregular menstruationDelayed skeletal maturationHypokalemiaDecreased circulating renin concentrationDecreased circulating aldosterone concentrationDecreased circulating cortisol levelAbsence of secondary sex characteristicsAbsence of pubertal developmentElevated circulating follicle stimulating hormone levelBilateral cryptorchidismAdrenocorticotropic hormone excessElevated circulating luteinizing hormone levelIncreased circulating progesteroneAmbiguous genitalia, maleBifid scrotumMicropenisAplasia of the uterusFailure to thriveAbsent axillary hairAbsent pubic hairMale infertilityMuscle spasmPrimary adrenal insufficiencyFemale external genitalia in individual with 46,XY karyotypePrecocious puberty in femalesBlind vagina
Classification & Codes
Orphanet Code
ORPHA:90793congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency
| Orphanet | ORPHA:90793 |
| Treatments | 0 drug(s) |
| Symptoms on record | 41 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO