What Is Classic Congenital Adrenal Hyperplasia?

Classic congenital adrenal hyperplasia (CAH) is a rare autosomal recessive genetic disorder that affects the adrenal glands, located above the kidneys. It affects the production of hormones produced by the adrenal glands, leading to an imbalance of hormones in the body.

CAH is caused by a deficiency of one of several enzymes involved in the synthesis of cortisol, a hormone that helps regulate the body's response to stress and controls fluid and electrolyte balance. This deficiency leads to an overproduction of androgenic hormones, which are male sex hormones, resulting in the characteristic symptoms of the condition.

Symptoms of CAH can vary depending on the severity of the enzyme deficiency and the sex of the affected individual. In females, the condition can cause ambiguous genitalia at birth, where the external genitalia may appear both male and female. In males, it may lead to enlarged genitalia and early development of secondary male sexual characteristics.

Other symptoms of CAH may include:

1. Excessive growth during infancy

2. Advanced bone age

3. Delayed puberty

4. Menstrual irregularities in females

5. Infertility

6. Electrolyte imbalances

7. Dehydration

8. Low blood pressure

9. Skin pigmentation changes

Treatment for classic congenital adrenal hyperplasia typically involves hormone replacement therapy, which aims to correct the hormone imbalances caused by the disorder. This usually includes taking cortisol-replacement medication and may also involve taking additional hormones to balance androgen and estrogen levels. Regular medical monitoring and adjustments to medication may be necessary throughout life.

Prenatal screening is available for CAH, and early diagnosis and treatment are important to minimize potential complications. Genetic counseling is recommended for individuals with a family history of the condition or who are considering having children.