What is Congenital Adrenal Hypoplasia (CAH)?

Congenital adrenal hyperplasia (CAH) is an inherited (genetic) condition that affects the adrenal glands. The adrenal glands are small glands on top of kidneys. They make the following important hormones:

  • Cortisol is the hormone your body makes under stress. It is important for regulating energy, maintaining normal blood pressure and blood sugars. Our bodies make high amounts of cortisol to help us recover from illnessfrom illness.
  • Aldosterone helps balance the levels of salt and water in the body. It also helps maintain blood pressure.
  • Androgens are sex hormones that help with pubertal changes and certain male physical characteristics. Both boys and girls make androgens.

How Does CAH Affect the Body?

In CAH, the adrenal glands are missing part or all of an enzyme (typically 21-hydroxylase). This enzyme helps make cortisol. Depending on how much enzyme is missing, the adrenal glands might not make enough aldosterone as well.

Because of the missing enzyme, the brain sends a chemical called ACTH to the adrenal gland to make more cortisol. This causes the body to make high levels of androgens. The high androgen levels can cause enlargement of the genital area.

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