Primary care
Recommendation 1
Surgery for genital defects and GC (hydrocortizone) therapy throughout lifetime
11-beta-hydroxylase deficiency
Not yet reviewedThis information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes.
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)
ZebraMD is partnering with Ambry Genetics for clinical-grade whole genome testing for rare diseases. Ambry accepts insurance. If you don’t have a physician to order this test, join our referral list and our team will reach out.
Treatment
Recommendation 1
Dexamethasone adminstered prenatally and GC replacement therapy throughout life
Further support
Recommendation 1
Cornell Medicine has a Comprehensive Care Center for Congenital Adrenal Hyperplasia (CAH). Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health.
Clinical trials
Clinical Trials
Sources
No data available
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