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# Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency

A rare form of congenital adrenal hyperplasia that combines virilisation with high blood pressure from childhood.

Updated 2026-11-01

## Structures involved

Tap one to see what it is and open it in 3D.

- [Right adrenal gland](https://durgical.com/en/anatomy/suprarenal-gland-abdomen/)
- [Left adrenal gland](https://durgical.com/en/anatomy/suprarenal-gland/)
- [Kidneys](https://durgical.com/en/anatomy/kidney/)
- [Clitoris](https://durgical.com/en/anatomy/clitoris/)
- [Labia majora](https://durgical.com/en/anatomy/labium-majus-of-vulva/)

## In biochemistry

- [Adrenal cortisol synthesis: Step 5 · 11β-Hydroxylase (CYP11B1)](https://durgical.com/en/biochemistry/pathways/adrenal-cortisol-synthesis/#paso-5)
- [Adrenal enzymes and congenital adrenal hyperplasia](https://durgical.com/en/biochemistry/topics/adrenal-enzymes-and-congenital-adrenal-hyperplasia/)
- [11β-Hydroxylase (CYP11B1)](https://durgical.com/en/biochemistry/enzymes/11-hydroxylase/)
- [17-Hydroxyprogesterone (17-OHP)](https://durgical.com/en/biochemistry/molecules/17-hydroxyprogesterone/)

## In embryology

- [Differences of sex development: CAH, AIS and 5α-reductase](https://durgical.com/en/embryology/differences-of-sex-development-cah-ais-and-5-reductase/)

## In physiology

- [The adrenal cortex: zones, hormones and androgens](https://durgical.com/en/physiology/the-adrenal-cortex-zones-hormones-and-androgens/)

## What it is

An autosomal recessive disorder from CYP11B1 variants: the last step of cortisol fails and precursors with mineralocorticoid and androgenic action pile up.

## Who gets it

It causes 5 to 8 % of congenital adrenal hyperplasia; it is estimated at 1 in 100,000 to 200,000 newborns and is far more common in Jews of Moroccan origin. No Colombian figures are cited here.

## Causes

- Variants in both copies of CYP11B1 (chromosome 8)
- Autosomal recessive inheritance

## Risk factors

- Carrier parents
- Consanguinity
- Groups with a founder effect

## Pathophysiology

Mitochondrial 11β-hydroxylase turns 11-deoxycortisol into cortisol and 11-deoxycorticosterone (DOC) into corticosterone. Without it cortisol falls, ACTH rises and 11-deoxycortisol and DOC pile up. DOC activates the mineralocorticoid receptor: it retains sodium, raises blood pressure, lowers potassium and suppresses renin and aldosterone. The precursors also spill into androgens, which virilise.

## Classification

- Classic (the most common)
- Non-classic (mild)

## Symptoms and signs

- Ambiguous genitalia in newborn girls
- Peripheral precocious puberty and fast growth in both sexes
- High blood pressure, often from childhood
- Weakness or cramps from low potassium
- Acne, hirsutism and irregular periods

## Red flags

- Hypertension in a young child
- Hypokalaemia with suppressed renin
- Ambiguous genitalia in the newborn

## Diagnosis

**Clinical**
Virilisation with high blood pressure; a salt-wasting crisis is rare because DOC stands in for aldosterone.

**Tests**
High 11-deoxycortisol and 11-deoxycorticosterone (basal or after ACTH); moderately high 17-hydroxyprogesterone; low renin and aldosterone; low potassium; high androgens; CYP11B1 genetic testing.

**Imaging**
Pelvic ultrasound in a newborn with ambiguous genitalia; hand X-ray for bone age; echocardiogram if hypertension has lasted long.

## Treatment

**Medical**
Glucocorticoid replacement, which holds ACTH back and lowers DOC and androgens (it usually corrects blood pressure)

**Medical**
Antihypertensives, such as mineralocorticoid receptor antagonists, if blood pressure does not normalise

**Surgical**
Genital surgery in selected cases by a multidisciplinary team

**Follow-up**
Monitoring of blood pressure, potassium, growth and bone age

## Complications

- Cardiovascular damage and ventricular hypertrophy from hypertension
- Short stature from early epiphyseal closure
- Infertility
- Adrenal crisis under stress

## Prognosis

Good with early treatment and blood pressure control.

## Prevention

- Genetic counselling in affected families

## Test yourself

Think of the answer, then tap the question to see it.

## Which precursors pile up in 11β-hydroxylase deficiency?

11-Deoxycortisol and 11-deoxycorticosterone.

## Why is renin low in this disease?

Because 11-deoxycorticosterone retains sodium, expands volume and suppresses renin.

## What sets this deficiency apart clinically from 21-hydroxylase deficiency?

Hypertension with low potassium instead of salt loss; both virilise.

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## Related conditions

- [Congenital adrenal hyperplasia due to 21-hydroxylase deficiency](https://durgical.com/en/conditions/congenital-adrenal-hyperplasia-due-to-21-hydroxylase-deficiency/)
- [Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency](https://durgical.com/en/conditions/congenital-adrenal-hyperplasia-due-to-17-hydroxylase-deficiency/)
- [Arterial hypertension](https://durgical.com/en/conditions/arterial-hypertension/)
- [Adrenal insufficiency](https://durgical.com/en/conditions/adrenal-insufficiency/)

Educational information, not medical advice. For any symptom, see a health professional.

Sources: [Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: MedlinePlus Genetics](https://medlineplus.gov/genetics/condition/congenital-adrenal-hyperplasia-due-to-11-beta-hydroxylase-deficiency/) (MedlinePlus, US National Library of Medicine, 2026); [CYP11B1 gene: MedlinePlus Genetics](https://medlineplus.gov/genetics/gene/cyp11b1/) (MedlinePlus, US National Library of Medicine, 2026); [Congenital adrenal hyperplasia: MedlinePlus Medical Encyclopedia](https://medlineplus.gov/ency/article/000411.htm) (MedlinePlus, US National Library of Medicine, 2026).

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Source: https://durgical.com/en/conditions/congenital-adrenal-hyperplasia-due-to-11-hydroxylase-deficiency/
License: CC BY 4.0 (https://creativecommons.org/licenses/by/4.0/). Cite as: DurgiPedia (durgical.com), https://durgical.com/en/conditions/congenital-adrenal-hyperplasia-due-to-11-hydroxylase-deficiency/