congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
Findings
No curated finding names congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females.
Definition from the Mondo Disease Ontology (MONDO:0008729), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
36 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Ambiguous genitalia, femaleHPOHP:0000061
- 4 of 4 reported patients · Female
- Frequent (30% to 79% of cases)
- Decreased circulating aldosterone concentrationHPOHP:0004319
- 8 of 8 reported patients
- Elevated serum 11-deoxycortisolHPOHP:0025436
- 7 of 7 reported patients
- Increased circulating androstenedione concentrationHPOHP:0025380
- 7 of 7 reported patients
- Very frequent (80% to 99% of cases)
- Increased serum testosterone levelHPOHP:0030088
- 7 of 7 reported patients
- Occasional (5% to 29% of cases)
- Decreased circulating renin concentrationHPOHP:0003351
Show the remaining 24
- HypokalemiaHPOHP:0002900
- Very frequent (80% to 99% of cases)
- Increased circulating androgen concentrationHPOHP:0030348
- Very frequent (80% to 99% of cases)
- Increased urinary 11-deoxycorticosterone levelHPOHP:0032330
- Very frequent (80% to 99% of cases)
- Decreased testicular sizeHPOHP:0008734
- 5 of 7 reported patients · Male
- Long penisHPOHP:0000040
- 5 of 7 reported patients
- Frequent (30% to 79% of cases)
- Precocious puberty in malesHPOHP:0008185
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CYP11B1HGNC:2591
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- Also called
- adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiencyCAH due to 11-beta-hydroxylase deficiencyCYP11B1 deficiency