11-beta-hydroxylase deficiency

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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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