Mayo Clinic does not endorse companies or products. Advertising revenue supports our not-for-profit mission.
Congenital adrenal hyperplasia (CAH) is an umbrella term used to describe a number of conditions related to the adrenal glands. Located near the kidneys, the adrenal glands are the two, walnut-sized organs responsible for creating a number of important hormones, including the following:
- Cortisol. This is often called the stress hormone.
- Mineralocorticoids. These are important hormones that help the body control sodium and potassium levels.
- Androgens. These include certain sex hormones such as testosterone.
In most cases, people with CAH lack an enzyme called 21-hydroxylase. This condition is sometimes referred to as 21-hydroxylase deficiency. This enzyme is needed to make the hormones the body needs to function, grow and develop. Without this enzyme, the hormones are thrown off balance and, in response, the body sets off a chain reaction, according to Irina Bancos, M.D., M.S., a Mayo Clinic expert and endocrinologist.
“A 21-hydroxylase deficiency ultimately leads to decreased cortisol production. When the pituitary gland senses that cortisol is insufficient, it tries to ‘shout’ at the adrenals to increase cortisol output by producing another hormone called adrenocorticotropic hormone (ACTH). Because of the 21-hydroxylase deficiency, the ACTH signals don’t do much to increase cortisol levels. However, the increased ACTH does lead to androgen overproduction,” Dr. Bancos explains.
Cortisol and the effects of classic CAH
The most serious effect of classic CAH is the risk of adrenal crisis, a life-threatening condition caused by low levels of cortisol in the blood. An adrenal crisis can be triggered by illness or intense physical stress on the body such as getting surgery. A lack of cortisol can lead to dehydration, low blood sugar, confusion, seizures and coma, among other symptoms. Adrenal crisis risk is very low when classic CAH is treated properly.
People with classic CAH must take care throughout their lives to avoid adrenal crisis, and there are different protocols around medications, dosages and lifestyle to help manage the risk. Since classic CAH is typically diagnosed at birth or early infancy, nearly all adults with classic CAH have lifelong experience with how to manage adrenal crisis risk.
Depending on the type of cortisol replacement therapy prescribed, adults with classic CAH also may need to be aware of symptoms of cortisol excess. This occurs if someone is overtreated with cortisol supplements. The symptoms may include elevated blood pressure and blood sugar issues, weight gain, osteoporosis and fractures, muscle mass loss, mood changes, and insomnia.
CAH and sexual development: Effects begin in childhood, extend into adulthood
Another common effect of both classic and nonclassic CAH is that it can impact sexual development.
With classic CAH, the condition may impact the development of the external genitals in female infants. This can lead to reproductive anatomy that doesn’t neatly fit the typical male or female categories. It is possible, for example, that the clitoris may be enlarged, or the labia may be partially closed. In some cases, surgery in early life may be required if the urethra does not develop properly. The internal organs, such as the uterus, fallopian tubes and ovaries, tend to develop as expected. Male infants with CAH can sometimes have enlarged genitals.
Additionally, both classic and nonclassic CAH can cause fertility issues, including irregular menstrual cycles, a lack of cycles or trouble getting pregnant. Due to increased androgens, some women also may develop facial hair, have more body hair or have a deeper voice. In some cases, CAH is confused with a different hormonal condition called polycystic ovary syndrome (PCOS), which can cause irregular menstruation and androgen excess.
Since nonclassic CAH may not be diagnosed until later childhood or early adulthood, people with nonclassic CAH may notice their first symptoms — such as irregular menstruation or fertility issues — later in life. And some may never experience any symptoms.
Treating CAH in adults
There are a number of treatments available for both classic and nonclassic CAH, according to Dr. Bancos. The exact treatment depends on the person, their concerns, and the medications most effective for their symptoms and lifestyle. It’s typically best to have a number of medical specialists help develop the treatment plan, including an endocrinologist, reproductive endocrinologist and geneticist.
In general, the most important goal of treatment is to replace the cortisol the body lacks and, when needed, lower the amount of androgens in the body.
People with classic CAH typically need treatment throughout their lives, which may include cortisol replacement using a glucocorticoid and mineralocorticoids to manage salt and potassium levels. There are also the protocols and medications to help manage the risk of potential adrenal crisis, if that possibility exists.
People with nonclassic CAH may not need treatment. Dr. Bancos says it depends on the severity of symptoms and whether someone may be family planning.
“Nonclassic CAH may need treatment if there are clinical manifestations of androgen excess. In women, estrogen and progestin oral contraceptives are usually the first line of therapy to counteract symptoms of androgen excess,” says Dr. Bancos. “In addition, antiandrogen medications such as spironolactone can be used. Cortisol supplements can also be used if non-cortisol medications are not tolerated or to induce ovulation or fertility.”
Effects of CAH can vary widely
In short, CAH is a chronic condition that, for some people, requires ongoing care and treatment. Different people experience the condition differently — meaning its impact and how much CAH “shows up” in someone’s life can range widely.
If you are newly diagnosed with CAH or feel uncertain about your current treatment plan, Dr. Bancos recommends having an open conversation with your healthcare team about your symptoms, concerns, and your future plans or goals.
Mayo Clinic does not endorse companies or products. Advertising revenue supports our not-for-profit mission.
Relevant reading
Mayo Clinic First-Aid Guide for Outdoor Adventures
The first-ever first-aid book from medical experts at Mayo Clinic, the most trusted name in medicine. Welcome to the jungle! Or the mountains! Or the high seas! Wherever your travels take you, Mayo Clinic First Aid Guide for the Outdoor Adventures is here to help you survive your next trek…
