What is it?

Congenital adrenal hyperplasia (CAH) is a group of disorders that affects the adrenal gland which secretes cortisol, mineralocorticoids and androgens. CAH is a genetic problem which causes a lack of the enzymes needed to produce one of these hormones. The two major type of CAH are:
1. Classic CAH- less common. Usually diagnosed in infancy. Most of the children who have this type will have the salt-losing form and only one-third will have the simple-virilizing form.
2. Nonclassic CAH- more common and milder, may be diagnosed only in early adulthood.

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Additional names

This group contains additional names:
- Virilization
- Congenital Adrenal Hyperplasia

Signs & symptoms

1. Classic CAH- Females will be born with ambiguous genitalia- an enlarged clitoris. Males will have normal appearing genitals. Both can be seriously affected by lack of cortisol, aldosterone or both. Children with the salt wasting form will have low blood pressure, low blood sugar.
2. Nonclassic CAH- this form is only diagnosed later in life. Girls may have irregular or absent menstrual periods, facial hair, excessive body hair, deep voice and severe acne.
In both forms, pubic hair and puberty may start early, they may grow taller faster than the other kids but overall will be shorter as adults.


Diagnosis may be done on the prenatal periods with amniocentesis and chorionic villus sampling. Later in life, Diagnosis is based upon findings from medical history and physical examination. Further evaluation may include gene testing, blood and urine tests.


Treatment depends on the symptoms and the form of disease but may include hormone replacement therapy and reconstructive surgery.

☝️ This is not a substitute for professional medical advice. Please consult with your physician before making any medical decision.

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