E25.00: 21-Hydroxylase deficiency [type 3 AGS], classic

You have a congenital 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 typically becomes noticeable in the period after birth. The missing stress hormones can cause hypoglycemia, increased drowsiness and difficulty drinking.

Male sex hormones are also important for the body’s growth. If the condition is not treated adequately, it can therefore affect the body size. In childhood, a person may at first grow more quickly and tend to be taller. However, the increased male sex hormones also cause them to stop growing at an earlier point. This means it’s possible for them to be rather short as an adult.

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.