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Androgens are hormones that affect growth, puberty, and reproductive health. Everyone’s body makes androgens, but people with congenital adrenal hyperplasia (CAH) may produce excess androgens. Excess androgens cause many CAH symptoms.
In this article, we’ll explore what androgen excess means in CAH, why it happens, and the symptoms to look out for. We’ll also cover the possible long-term effects and how treatment can help balance hormone levels.
Androgens are a group of hormones known as sex hormones. They’re sometimes referred to as “male hormones” because males make more androgens than females. Androgens are made in the adrenal glands, ovaries, and testicles. Their main role is to support body development and reproductive health. Androgens are also involved in bone health, muscle development, and red blood cell (RBC) production.
Testosterone is the main androgen, but other important adrenal androgens include androstenedione, dehydroepiandrosterone (DHEA), and DHEA sulfate (DHEAS).
Read more about androgens.
CAH can cause your adrenal glands to produce excess androgen hormones and not enough of other adrenal hormones. To understand how CAH can lead to androgen excess, it may help to think of your adrenal glands like a factory. This factory makes three main products, each of which is a type of hormone:
In CAH, a key machine in the factory that makes one of these three products is missing or not working well. In the most common form of CAH, the machine that’s missing is an enzyme (a specialized protein) called 21-hydroxylase. This form of CAH is also called 21-hydroxylase deficiency. Without the “machine” of 21-hydroxylase, the adrenal gland factory can’t make enough cortisol, and sometimes it can’t make enough aldosterone either. In other forms of CAH, other enzymes (other “machines”) might be missing. The end result is that the adrenal glands make fewer glucocorticoids or mineralocorticoids.
When the brain (the factory supervisor) notices that cortisol levels are low, it sends out a chemical signal to the adrenal glands to work harder. This chemical signal is called adrenocorticotropic hormone (ACTH). However, in people with CAH who have missing or defective machinery, working harder still can’t increase cortisol production. Instead, the adrenal factory shifts production to make a product it has all the machinery for: androgens. As a result, the adrenal glands make excess androgen hormones. Having excess androgens is known as hyperandrogenism.
This process happens in both classic and nonclassic forms of CAH. However, the amount of excess androgens varies depending on the severity. Some people with CAH may have only mild symptoms, while others have more serious and noticeable symptoms.
The symptoms of androgen excess depend on your sex, your age, and the type and severity of CAH that you have. In general, symptoms of androgen excess are easier to notice in females.
Due to the excess androgens, females with classic CAH can be born with atypical external genitalia and an enlarged clitoris. That means that the external genitalia may resemble male genitalia even though internal reproductive organs are female.
As children grow, excess androgens can trigger early puberty with signs such as acne, pubic hair, and excess body hair. It can also cause rapid growth. However, this rapid growth can make the growth plates mature too quickly, resulting in premature growth arrest (when growth stops too early) and a shorter-than-average adult height.
In adult women, high androgen hormone levels can cause the following signs and symptoms:
Learn more about CAH symptoms in girls and women.
Male infants with CAH often have typical external genitalia, but they may have an enlarged penis. As with girls, high androgen levels in boys can cause early puberty, rapid growth, and a shorter adult height.
Androgen excess in adult men may not cause noticeable symptoms. However, since androgen hormones affect how the testicles work, androgen excess can cause infertility.
Learn more about CAH symptoms in boys and men.
Some of the long-term complications of CAH are caused by the effects of androgen excess.
The rapid growth associated with androgen excess in childhood can actually result in a shorter-than-average adult height. Androgen hormones can encourage rapid growth. However, the growth spurt comes at a cost. Hormonal imbalance and excess androgen levels can make the bones mature too quickly with premature closure of the growth plates, which halts further growth. As a result, adults with androgen excess from CAH often complete their growth sooner than their peers and are shorter than average.
High androgen levels in CAH can also affect fertility. However, this effect may be different for males and females.
In women with CAH, androgen excess can cause irregular menstrual periods and disrupt the process of ovulation (when the egg is released from the ovaries). If ovulation doesn’t happen or is irregular, it’s more difficult to become pregnant.
In men with CAH, androgen excess can interfere with healthy sperm production. Additionally, up to 50 percent of men with classic CAH develop testicular adrenal rest tumors (TARTs) as a result of excess ACTH, which can block sperm production. TARTs are benign (noncancerous) growths of adrenal-like tissue in the testicles. TARTs are more common in people with poor hormonal control in CAH. Together, these problems can make it more difficult for men to father children.
People with CAH have an increased risk of heart and blood vessel problems. One study found that people with CAH have about a 50 percent increased risk of heart disease or stroke compared to the general population. This increased risk is due in part to high androgen levels.
Research shows that high androgen levels can lead to:
Androgen excess is diagnosed with a physical exam and laboratory tests. During a physical exam, your healthcare provider will look for physical signs of androgen excess, such as acne or excessive body hair.
Blood tests and other laboratory tests can check hormone levels in the blood, including:
You may need additional tests. For example, imaging tests or genetic testing can help discover the cause of androgen excess in people who haven’t been diagnosed with CAH.
The treatment for androgen excess in CAH involves control of the hormonal imbalance. Glucocorticoid treatment can help control androgen excess and replace the missing cortisol. Hydrocortisone and dexamethasone are examples of glucocorticoid medications. Glucocorticoid treatment can cause side effects like osteoporosis (low bone density) and weight gain. Your healthcare provider may also recommend a CRF1 antagonist in addition to glucocorticoids which can cause side effects like dizziness and headache.
Thinking about the adrenal glands as a factory again can help you understand how glucocorticoid treatment reduces androgen levels. When you treat someone with CAH using glucocorticoids, the factory supervisor in the brain doesn’t sense the need to stimulate the adrenal glands to work harder. Then the brain can reduce the signal that makes the adrenal glands work harder. This helps the adrenal factory slow down and produce fewer androgens.
You may need other treatments for CAH based on your symptoms. Talk to your endocrinologist for more information about your personalized treatment plan.
On CAHteam, people share their experiences with congenital adrenal hyperplasia, get advice, and find support from others who understand.
Do you have symptoms of excess androgens due to CAH? Share your experience in the comments below.
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