Congenital Adrenal Hyperplasia (Non-Classic CAH)
What is Non-Classic CAH?
Non-Classic CAH (NCCAH) is a milder, late-onset form of CAH. The enzyme deficiency is partial (not complete), so cortisol production is reduced but not absent. It often goes undiagnosed until adolescence or adulthood.
Who gets it?
It is surprisingly common, affecting 1 in 200 people of Ashkenazi Jewish, Hispanic, Slavic, or Italian descent.
Symptoms (Mostly in Women):
- Hirsutism: Excess facial and body hair.
- Acne (persistent, severe).
- Irregular periods or infertility.
- Male-pattern baldness.
Many women are misdiagnosed with PCOS because symptoms overlap.
Symptoms in Men:
Often asymptomatic or early balding, acne. Many men are never diagnosed.
Diagnosis:
- ACTH Stimulation Test: Measure 17-hydroxyprogesterone before and after ACTH injection. In NCCAH, it rises dramatically.
Treatment:
- Low-Dose Glucocorticoids (Dexamethasone or Hydrocortisone): Suppresses adrenal androgen production, improving hirsutism and fertility.
- Anti-Androgens (Spironolactone): For hirsutism and acne.
- Fertility: Glucocorticoid treatment often restores ovulation.
Resources:
- CARES Foundation: www.caresfoundation.org