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In people with congenital adrenal hyperplasia (CAH), the adrenal glands don’t make enough of some key hormones, such as cortisol and sometimes aldosterone. To make up for that, the glands often produce too much of a group of sex hormones called androgens. When androgen levels rise, they can change how a person looks and sounds — for example, by causing extra body hair, acne, or a deeper voice. The effects of CAH can look a little different in males and females. These signs and symptoms can change over time as a person grows and moves through different stages of life.
In this article, we’ll discuss what CAH looks like in males, from birth through adulthood.
The two main types of CAH are classic and nonclassic. Classic CAH is the more severe type and is almost always diagnosed at birth. Classic CAH is further divided into two subtypes, called salt-wasting CAH and simple-virilizing CAH.
In salt-wasting CAH, the adrenal glands don’t make enough aldosterone. Aldosterone is a hormone that your body uses to regulate the amount of sodium (salt) in your blood. Without enough aldosterone, your body loses too much salt through your urine, which can lead to dehydration. Salt-wasting CAH can cause abnormal electrolyte levels that may result in signs and symptoms including:
The other type of classic CAH is often called the simple virilizing type, or non-salt-wasting classical CAH. In this type, aldosterone levels are closer to normal. However, similar to salt-wasting CAH, simple virilizing CAH still causes the adrenal glands to produce too many androgens and not enough cortisol.
CAH is a genetic condition that affects similar numbers of males and females, but it can cause different symptoms in each.
Newborn screening for classic CAH is standard practice in the United States. If classic CAH isn’t diagnosed and treated at birth, it can be life-threatening. Symptoms of undiagnosed classic CAH in infants may include the following:
In classic CAH, atypical appearance of the genitals isn’t a sign in male children, but some other changes can be subtle. The penis may appear larger than expected for a newborn, and some may have darker skin on the scrotum. In males with salt-wasting CAH, the genitals usually look typical at birth, but this darker pigmentation — caused by high hormone exposure in the womb — may be the first sign of classical CAH.
Nonclassic CAH is milder and often not detected at birth. However, some symptoms may still appear in childhood. In newborn males (and females) with nonclassic CAH, the genitals appear typical. Later in life, the penis may appear enlarged, with the testicles relatively small.
In classic CAH, children as young as age 2 or 3 may show early signs of puberty. This happens because of abnormal hormone levels that are related to sexual development. These symptoms can include:
Signs of early puberty can also happen in boys with nonclassic CAH. In most cases, babies with nonclassic CAH may not show any symptoms until they reach adolescence or early adulthood.
Androgens play an important role in sexual development. As boys with CAH reach puberty, higher amounts of androgens can cause symptoms related to sexual development, according to Cincinnati Children’s.
Symptoms of classic CAH in adolescents can include:
Nonclassic CAH is a milder form of the condition, and symptoms may not appear until the teen years or early adulthood. In some cases, adolescents with nonclassic CAH may not have any noticeable symptoms at all.
Testicular adrenal rest tumors (TARTs), also called adrenal rests, are benign (noncancerous) tumors that develop from adrenal gland tissue that is already within the testis. They’re most common in those with CAH who have reached puberty, but they can also be found in childhood and adolescence.
In most people, they’re too small to be noticeable. However, in some cases, they can grow large enough to feel like a mass in the testes. Men who develop TARTs may be more likely to experience issues with infertility, according to Endotext, an online medical reference on hormone-related conditions.
When a person with CAH reaches adulthood, some symptoms from childhood and puberty caused by hormone imbalances may continue. In adulthood, they and their healthcare providers may focus more on managing long-term health and reproductive issues.
Adult males with CAH — especially those with the classic form — may still have symptoms caused by high androgen levels if the condition isn’t well controlled. In both the classic and nonclassic forms, they may also notice ongoing or new issues such as acne, extra body hair, or hair loss. Problems with fertility, sex drive, and erections are covered in more detail below.
Adult males with CAH may have issues with fertility because of changes within their testicles or due to low testosterone levels, especially those with classic CAH. If CAH isn’t properly treated in childhood and adolescence, some men can develop benign TARTs. These tumors may disrupt hormonal balance and lead to low sperm production.
In uncontrolled classic CAH, too much androgen production over a long time can lead to low testosterone levels. As a result, this prevents the testes from working as well as they should. Both adrenal rests and low testosterone levels can contribute to issues with infertility.
CAH treatment with glucocorticoid therapy, also referred to as steroids, may also cause side effects. Glucocorticoids are a synthetic (lab-made) version of cortisol that can be used to lower androgen levels in CAH.
Glucocorticoid treatment may be useful for treating abnormal hormone levels, but it might also result in side effects like reduced sexual interest or difficulty getting or maintaining an erection.
A medication called crinecerfont (Crenessity)was approved by the U.S. Food and Drug Administration (FDA) in 2024. It helps lower excess androgen levels in people with classic CAH. People taking crinecerfont still need glucocorticoids but may need smaller doses to treat their CAH, which can reduce the risk of glucocorticoid side effects.
People with classic CAH need to be aware of the potential for adrenal crises. An adrenal crisis is a life-threatening condition that requires immediate medical attention. It can happen at any age if cortisol and aldosterone levels become relatively low.
Signs and symptoms of an adrenal crisis can include:
Adrenal crises may be more likely to happen during physical stress, illness, or injury. Your doctor may recommend higher doses of medication to treat CAH, including injectable hydrocortisone. Anyone receiving steroids should wear a medical alert bracelet or similar item for rapid identification.
If you or your child has been diagnosed with CAH, it’s important to work closely with an endocrinologist (hormone specialist). Regular monitoring, treatment adjustments as needed over time, and supportive care are essential to managing the symptoms of CAH throughout all stages of life.
On CAHteam, people share their experiences with congenital adrenal hyperplasia, get advice, and find support from others who understand.
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