congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency
ICD-10: E25.0ORPHA: 90791
Overview
medical condition
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 congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency, sourced from HPO and Orphanet clinical annotations.
Congenital adrenal hyperplasiaAmbiguous genitalia, maleHypospadiasAmbiguous genitalia, femaleRenal salt wastingGynecomastiaIncreased circulating renin concentrationHyperpigmentation of the skinDehydrationNeonatal hypoglycemiaVomitingHyperkalemiaHypotensionHyponatremiaDecreased circulating aldosterone concentrationDecreased circulating cortisol levelClitoral hypertrophyAdrenocorticotropic hormone excessDecreased fertility in malesIncreased circulating androstenedione concentrationIncreased serum testosterone levelElevated circulating 17-hydroxyprogesterone concentrationDecreased serum testosterone concentrationAbnormal circulating dehydroepiandrosterone concentrationAzoospermiaCryptorchidismMale pseudohermaphroditismPenoscrotal hypospadiasHirsutismGlobal developmental delayFailure to thriveFemale external genitalia in individual with 46,XY karyotypeDecreased testicular sizePremature adrenarcheNeonatal asphyxiaAbnormal labia majora morphology
Classification & Codes
ICD-10 Code
E25.0Orphanet Code
ORPHA:90791congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency
| ICD-10 | E25.0 |
| Orphanet | ORPHA:90791 |
| Treatments | 0 drug(s) |
| Symptoms on record | 36 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO