E25.01: 21-Hydroxylase deficiency [type 3 AGS], late-onset

You have a condition that means that the adrenal glands are producing too few stress hormones and too many male sex hormones.

The adrenal glands are at the top of the kidneys. The adrenal glands form the stress hormone cortisol. Cortisol has many effects in the body. For example, cortisol is important for the sugar level in the blood and for blood pressure. The adrenal glands also produce a hormone (messenger substance) that manages the levels of minerals in the blood. Minerals help regulate hydration and maintain fluid balance in the body. The adrenal glands also form sex hormones. Every person has female and male sex hormones in their body.

In the body, certain proteins ensure that processes run better or more quickly. These proteins are also known as enzymes. The hormones of the adrenal glands share common precursors. In your case, an enzyme that creates the hormone cortisol from its precursors is not working properly. As a result, you have too little of the hormone cortisol in your body. If the adrenal glands cannot produce any cortisol from the precursors, then they will produce male sex hormones from them. You thus have too many male sex hormones in your body.

The condition does not typically become noticeable until early school age or later. For example, a person may reach puberty earlier than other children of the same age. Pubic hair may then grow earlier than usual. The person may also be prone to pimples.

The disease is hereditary. It occurs when certain segments of genetic information are changed. Genetic information contains the body’s complete blueprint. The disorder can occur if both parents carry the changed genetic information. The parents can pass the changed genetic information on to their children without falling ill themselves.