Conditions · Metabolism (biochemistry)
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
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In biochemistry
- Adrenal cortisol synthesis: Step 5 · 11β-Hydroxylase (CYP11B1)
- Adrenal enzymes and congenital adrenal hyperplasia
- 11β-Hydroxylase (CYP11B1)
- 17-Hydroxyprogesterone (17-OHP)
In embryology
In physiology
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
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.
Related conditions
- Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency
- Arterial hypertension
- 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 (MedlinePlus, US National Library of Medicine, 2026); CYP11B1 gene: MedlinePlus Genetics (MedlinePlus, US National Library of Medicine, 2026); Congenital adrenal hyperplasia: MedlinePlus Medical Encyclopedia (MedlinePlus, US National Library of Medicine, 2026).
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