Congenital Adrenal Hyperplasia (CAH): A Rare Adrenal Gland Disorder
Congenital Adrenal Hyperplasia (CAH) refers to a group of inherited disorders that affect the adrenal glands’ ability to produce essential hormones. It can lead to imbalances in cortisol, aldosterone, and androgens, and is often diagnosed in infancy or early childhood, though milder cases may be discovered later in life.
What Are the Symptoms?
Symptoms can vary based on the type and severity of CAH, but may include:
- Excess facial or body hair
- Irregular or absent menstrual periods
- Severe acne
- Early puberty or rapid growth in childhood
- Fatigue, dehydration, or salt-wasting crises (in classic CAH)
- Fertility challenges in adults
How Is It Diagnosed?
Diagnosis often includes:
- Blood tests for hormone levels (cortisol, ACTH, 17-hydroxyprogesterone)
- Genetic testing for CYP21A2 or other gene mutations
- Electrolyte testing (especially in infants)
- Imaging studies for adrenal enlargement or gonadal development
How Is It Treated?
While CAH cannot be cured, it can be managed through:
- Hormone replacement therapy (e.g., corticosteroids, mineralocorticoids)
- Monitoring growth, bone health, and development
- Surgery in some cases (e.g., for genital abnormalities in infants)
- Ongoing support for fertility and hormonal balance in adults
Why Seek Care at Endocrinology Associates?
At Endocrinology Associates, we specialize in hormonal disorders like CAH. Dr. Elena Christofides brings years of experience diagnosing and managing rare adrenal conditions, with a focus on individualized, compassionate care.
