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Updated on May 10, 2024
Congenital adrenal hyperplasia (CAH) is a group of conditions that affect the normal production of hormones in the adrenal glands. The adrenal glands are a pair of walnut-sized glands located on top of each kidney. They produce hormones that are essential to many processes in the body—the balance of fluids and salts, immunity, stress response, growth and development, fertility.
The two main types of CAH are called classic CAH and non-classic CAH.
- Classic CAH is typically diagnosed with a routine blood screening shortly after a person is born. It is comparatively less common but more serious, and it’s associated with potentially life-threatening complications.
- Non-classic CAH is more common, but less serious. It can be missed by the routine screening that a person is given shortly after being born and may not be diagnosed until later in life. Some people with this type do not experience any symptoms and do not require any treatment.
There is no cure for CAH, but it can be managed. Treatment will depend on a person’s age, the type of CAH a person has, and the severity of the condition. In general, treatment focuses on balancing hormone levels, managing symptoms, and preventing complications.
Individualized treatment
It’s important to note that CAH affects different people in different ways. Consequently, treatment is individualized—the therapies that are prescribed and the dosages will vary from person to person. Treatment also involves a team of healthcare providers with different specialties, such as endocrinologists, surgeons, and mental health professionals. Members of a team can vary depending on a person’s needs.
Medications for CAH
Treatment for CAH can involve several different medications:
Glucocorticoid therapy
People who have CAH do not produce enough cortisol, a hormone involved in many important processes in the body. Cortisol is a glucocorticoid, or a steroid hormone. Glucocorticoid medications can be taken to replace the cortisol the body is unable to make.
Mineralocorticoid therapy
In addition to inadequate levels of cortisol, most people with classic CAH also produce inadequate levels of a hormone called aldosterone. This hormone regulates the amount of sodium and water in the body. Low levels can cause life-threatening complications due to loss of sodium. This is referred to as the “salt wasting” type of classic CAH.
Aldosterone is a type of steroid hormone called a mineralocorticoid. Mineralocorticoid medications can be taken to replace the aldosterone the body is unable to produce. If needed, a person can also be prescribed sodium supplements to bring sodium levels back to healthy levels.
Stress dosing
A person’s medication will also need to be adjusted during periods of physical stress, including serious illness, trauma, and surgery. This is referred to as “stress dosing.”
Monitoring
Regular exams to monitor growth and development in children is an essential part of care. People with CAH of all ages will require regular appointments with a healthcare provider to monitor hormone levels, check for medication side effects, screen for potential health problems, and discuss any unmet needs in treatment.
Surgery for CAH
Androgens are another type of hormone produced by the adrenal glands. Androgens are sometimes called “male sex hormones” because they promote the growth and development of male sex characteristics.
When the adrenal glands do not produce enough cortisol, they produce excess amounts of androgens. This can result in virilization, or exaggerated male sex characteristics. This can cause rapid growth in early childhood, early puberty, and excessive facial hair. It can also affect the appearance and development of the genitals in female infants (a condition called ambiguous genitalia).
Surgery may be used to change the appearance or function of the genitals. This is not always required, though the best source of information will always be a healthcare team.
Medical alert IDs
People with classic CAH are advised to wear a medical alert ID. This is a piece of jewelry—such as a bracelet or necklace—that identifies a person as having a medical condition that requires a specific type of emergency care. This can save a person’s life if they experience adrenal crisis, a situation where cortisol levels become dangerously low, potentially leading to complications like seizures, coma, organ failure, and death.
