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| Disease found: | 11-beta-hydroxylase deficiency |
| Current as of: | October 8, 2024 |
| Disease Overview: | Autosomal recessive disorder caused by mutation in CYP11B1 gene causing adrenal glands to produce excess androgens. [more info] |
| Signs and Symptoms: | Urogenital Defects (Urogenital Defects: Long Penis, Ambiguous genitalia, Clitoral hypertrophy, Irregular menstruation) and Musculoskeletal Defects (Musculoskeletal Defects: Short stature, Accelerated skeletal maturation, Growth abnormality) [more info] |
| Diagnosis: | 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) [more info] |
| Treatment: | Dexamethasone adminstered prenatally and GC replacement therapy throughout life [more info] |
| Clinical Management: | Surgery for genital defects and GC (hydrocortizone) therapy throughout lifetime [more info] |
| Referral: | 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: | There are several clinical trials currently recruiting |