congenital adrenal hyperplasia due to 11β-hydroxylase deficiency
MeSH: C535978ORPHA: 90795
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 11β-hydroxylase deficiency, sourced from HPO and Orphanet clinical annotations.
Ambiguous genitaliaHypertensionGrowth abnormalityHypokalemiaDecreased circulating renin concentrationAccelerated skeletal maturationDecreased circulating cortisol levelIncreased circulating androstenedione concentrationIncreased circulating androgen concentrationElevated circulating 17-hydroxyprogesterone concentrationIncreased urinary 11-deoxycorticosterone levelLong penisAmbiguous genitalia, femalePrecocious pubertyIrregular menstruationHyperpigmentation of the skinHirsutismAcneIncreased circulating ACTH levelShort statureIsosexual precocious pubertyClitoral hypertrophyPremature pubarchePremature adrenarcheRenal salt wastingPolycystic ovariesGynecomastiaAlopeciaTesticular adrenal rest tumorIncreased serum testosterone levelIntracranial hemorrhagePremature thelarche
Classification & Codes
MeSH Code
C535978Orphanet Code
ORPHA:90795congenital adrenal hyperplasia due to 11β-hydroxylase deficiency
| MeSH | C535978 |
| Orphanet | ORPHA:90795 |
| Treatments | 0 drug(s) |
| Symptoms on record | 32 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO