11-beta-hydroxylase deficiency

Verified by a specialistLast reviewed January 30, 2026

Disease overview

Autosomal recessive disorder caused by mutation in CYP11B1 gene causing adrenal glands to produce excess androgens.

Common symptoms

Urogenital Defects (Urogenital Defects: Long PenisAmbiguous genitaliaClitoral hypertrophyIrregular menstruation) and Musculoskeletal Defects (Musculoskeletal Defects: Short statureAccelerated skeletal maturationGrowth abnormality)

When to suspect

  • Recommendation 1

    Physical Exam Findings in Girls (Diagnosis of girls with classic CAH due to 11-beta-hydroxylase deficiency (11beta-OHD) is usually at birth when virilization of external genitalia is present) and pre-birth genetic testing (Prenatal diagnosis is possible where the pathogenic variant has previously been identified in a family member or in case of genital abnormalties diagnosed antenatally in girls)

How to test

  • Recommendation 1

    Physical Exam Findings in Girls (Diagnosis of girls with classic CAH due to 11-beta-hydroxylase deficiency (11beta-OHD) is usually at birth when virilization of external genitalia is present) and pre-birth genetic testing (Prenatal diagnosis is possible where the pathogenic variant has previously been identified in a family member or in case of genital abnormalties diagnosed antenatally in girls)

Treatment

  • Recommendation 1

    Dexamethasone adminstered prenatally and GC replacement therapy throughout life

Primary care

  • Recommendation 1

    Surgery for genital defects and GC (hydrocortizone) therapy throughout lifetime

Further support

Clinical trials

Sources

No data available

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