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Understanding CAH and excess androgen production

Learn how congenital adrenal hyperplasia (CAH) causes the body to produce excess amounts of androgen hormones.

A man managing CAH takes a dosage of steroid medication from a pill organizer. People treating CAH with steroid therapy often need to take multiple doses of steroid medication each day, and a goal of development for new therapies is to reduce the amount of steroids required.

Updated on July 21, 2025

Hormones are chemical messengers. Produced by numerous glands, organs, and tissues throughout the body, hormones travel through the bloodstream and interact with many different cells, regulating many different functions. Growth, development, mood, the balance of salts and fluids, and the sleep-wake cycle are a few of the many processes that are regulated by hormones.

Androgens are a type of hormone that play an important role in growth and development, muscle mass, bone density, reproductive function, and the production of red blood cells. Androgens are sometimes called “sex hormones” because of their important role in the health and development of the reproductive system.

As with other hormones, when androgen levels are too low or too high, problems can occur. Below is a look at how androgen levels are impacted by congenital adrenal hyperplasia, and how treatment helps balance androgen levels.

Congenital adrenal hyperplasia (CAH)

To understand how congenital adrenal hyperplasia (CAH) affects androgen production, it helps to review the basics of what is happening in the body when a person has CAH.

CAH refers to a group of genetic disorders that disrupt the production of cortisol and aldosterone, a pair of hormones produced by the adrenal glands, which are a pair of glands located on top of each kidney:

  • Cortisol helps regulate blood pressure, blood sugar levels, metabolism, immune function, and helps your body respond to illness and injury. It also helps regulate the body’s stress response, which is why it is commonly called "the stress hormone."
  • Aldosterone helps regulate blood pressure by managing the levels of sodium and potassium in your blood and controlling the amount of water your kidneys reabsorb.

In over 90 percent of cases, CAH results from genetic mutations that disrupt the production of an enzyme called 21-hydroxylase. The adrenal glands require this enzyme to produce cortisol and aldosterone. Low levels of this enzyme result in low levels of cortisol and/or aldosterone.

The symptoms and severity of CAH varies from person to person and depends on how much hormone production is impacted. The most severe form of CAH is known as the salt-wasting form, where very low levels of cortisol and aldosterone can lead to life-threatening complications, including adrenal crisis and dehydration caused by electrolyte imbalances and sodium loss.

While most cases are caused by deficiencies in 21-hydroxylase, CAH can also result from deficiencies in other enzymes involved in the production of adrenal hormones. Symptoms can also vary depending on the enzymes affected.

The hypothalamic-pituitary-adrenal (HPA) axis

Low levels of cortisol and aldosterone lead to excess productions of androgens due to an overstimulation of the hypothalamic-pituitary-adrenal axis (HPA axis).

The HPA axis is one of the body's main communication systems for hormone production. It consists of the hypothalamus and pituitary gland (both located in the base of the brain) and the adrenal glands (again, located atop the kidneys). The main function of the HPA axis is to regulate hormone levels.

When levels of cortisol and aldosterone are too low, the HPA axis will increase its production and release of adrenocorticotropic hormone (ACTH). Normally, this hormone stimulates the production of cortisol and androgens (and to a lesser extent, aldosterone) in the adrenal glands. When the adrenal glands lack the enzymes needed to produce cortisol, ACTH instead stimulates the production of androgens.

This leads to excess amounts of androgens. Excess androgen levels can affect growth, development, and reproductive health, and also lead to symptoms like severe acne, excess facial hair, and early puberty.

Treatment for CAH

Treatment for CAH will depend on a person’s age, symptoms, the severity of symptoms, the type of CAH, and other factors.

For CAH that requires long-term maintenance therapy, steroid medications are the main treatment—glucocorticoids to replace cortisol and/or mineralocorticoids to replace aldosterone. These medications help prevent symptoms and complications related to low levels of cortisol and/or aldosterone and help reduce excess androgen production.

Treatment plans may also include salt supplements to maintain sodium levels, medications to regulate blood pressure, medications to lower excess androgen levels, and in some cases, surgery. Everyone’s treatment plan will be different.

Treatment options are expanding

A focus of research into new treatments for CAH are medications that lower the dosages of steroids required to control excess androgen production.

While continuous use of glucocorticoids and/or mineralocorticoids are necessary, prolonged use of these medications also cause side effects, such as weight gain, bone loss, high blood pressure, high blood sugar, and eye problems. Monitoring for side effects is an important part of treatment.

Reducing the dosages of steroids required to manage CAH can help reduce the burden of these side effects.

A new treatment for classic CAH (a severe form of CAH) was approved in December of 2024. This medication reduces the amount of ACTH released in the HPA axis. This helps control androgen levels and reduce the dosages of steroid medications required to control excess androgen production.

Other therapies are under development. Side effects, treatment options, and new therapies are all important topics to discuss with your healthcare provider.

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