Congenital adrenal hyperplasia

Congenital adrenal hyperplasia (CAH) is a group of inherited disorders involving abnormal production of the steroid hormones — cortisol, aldosterone and androgen — by the adrenal glands.

These disorders are due to a defect in one or more of the enzymes needed to make these hormones. CAH is inherited in an autosomal recessive manner. This means that a child must inherit one defective gene from each parent in order to develop the disease.

There are many types of CAH. Signs and symptoms depend on the particular enzyme involved and how severely it is impaired. One type causes a life-threatening cortisol deficiency shortly after birth. Another type causes menstrual irregularities and excess facial hair in adult women.

Congenital adrenal hyperplasia may also cause:

• Ambiguous genitalia
• High blood pressure in infants and children
• Early or delayed puberty
• Excessive male hormones in females
• Infertility in females

A doctor can confirm a diagnosis of CAH by blood tests, which measure levels of cortisol, aldosterone and androgen. CAH is best managed by a specialist familiar with the disease, such as an endocrinologist. Treatment is directed at returning hormone levels to normal with long-term hormone therapy. If you have a family history of CAH, you may benefit from genetic counseling.