The adrenal glands produce important hormones, including cortisol and aldosterone, that are needed to regulate the body. In people living with congenital adrenal hyperplasia (CAH), the adrenal glands don’t produce enough cortisol and sometimes aldosterone. Instead, they may make high levels of androgens, sex hormones associated with increased body hair, acne, and a deeper voice. In males with CAH, these hormonal imbalances can cause different symptoms than those experienced by females. These symptoms can change over time with different stages of life.

In this article, we’ll cover the potential symptoms of CAH to look out for in males, spanning from birth through adulthood.

Congenital Adrenal Hyperplasia: Classic and Nonclassic Types

There are two main types of CAH: 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, known as 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 dangerous levels of dehydration. Salt-wasting CAH can cause abnormal hormone levels that may result in symptoms including:

• Not eating enough
• Weight loss
• Diarrhea or vomiting
• Arrhythmias (heart rhythm problems)
• Low blood sodium levels
• High potassium levels
• Low blood pressure
• Metabolic acidosis (too much acid in the blood)
• Shock

The other type of classic CAH is often called the simple virilizing type or non-salt-wasting CAH. In this type, aldosterone levels are closer to normal, and the symptoms are usually not life-threatening. However, simple virilizing CAH still causes the adrenal glands to produce too many androgens and not enough cortisol.

CAH Symptoms in Early Life

CAH is a genetic disorder that affects males and females equally, according to Cares Foundation. However, the symptoms differ between males and females.

Newborn screening for classic CAH is standard practice in the United States. However, if classic CAH is not diagnosed at birth, it can be life-threatening. Symptoms of undiagnosed classic CAH in infants may include the following:

• Weight loss
• Vomiting
• Dehydration
• Diarrhea
• Shock
• Heart problems
• Coma

Atypical Genitalia

In classic CAH, atypical formation of the genitals is a common symptom in male children. Newborn males may have an enlarged penis and small testes (testicles). In some cases, the penis may appear larger than typical for a newborn, or the scrotum may be darkly pigmented. These physical changes result from high androgen exposure in the womb.

Nonclassic CAH is milder and often not detected at birth. However, some symptoms may still appear in childhood. In newborn males with nonclassic CAH, the genitals usually appear typical.

Early Puberty

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:

• Rapid growth
• Advanced bone maturation (the bones grow too fast)
• Early acne and body hair (in the pubic area, on the face, and under the arms)
• Body odor

Signs of early puberty can happen in boys with nonclassic CAH too. In some cases, babies with nonclassic CAH may not show any symptoms until they reach adolescence or early adulthood.

CAH Symptoms in Adolescence

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 CAH in adolescents can include:

• Early onset of puberty
• Early development of pubic hair, underarm hair, and facial hair
• Early or severe acne
• Accelerated growth
• Shorter-than-expected height at the end of puberty

Nonclassic CAH is the less severe form of the disease, and symptoms may also be milder or absent until adolescence or early adulthood. In some cases, adolescents with nonclassic CAH may not have any symptoms at all.

Testicular Adrenal Rest Tumors and CAH

Testicular adrenal rest tumors (TARTs), or simply “adrenal rests,” are benign (noncancerous) tumors that develop from extra adrenal gland tissue. They’re most common in those with CAH who have reached puberty, but they can also be present in childhood and adolescence.

In most people, they are too small to be noticeable. However, in some cases, they can grow large enough to resemble a mass in the testes. Men who develop TARTs may be more likely to experience issues with infertility, according to Endotext, an online resource on endocrine disease.

CAH Symptoms in Adulthood

When a person with CAH reaches adulthood, many of the symptoms they experienced during childhood and puberty related to abnormal hormone levels may continue. In adulthood, they and their health care providers may shift their focus away from what’s typical or atypical toward managing long-term health and reproductive issues.

Adult males with CAH, especially those with the classic form, may continue to have symptoms related to high androgen levels if their condition is not managed properly. In both the classic and nonclassic forms, adult males may experience new or persisting issues with acne, excess body hair, and male-pattern baldness. Adult-onset symptoms related to infertility, libido, and erectile dysfunction are discussed in more detail below.

Fertility Issues

Adult males with CAH may experience issues with infertility because of differences with their testicles or low testosterone levels. If CAH is not properly treated in childhood and adolescence, some men can develop benign TARTs. These tumors may disrupt hormonal balance and lead to low sperm production (also called oligospermia).

In uncontrolled CAH, too much androgen production over a long period of 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.

Reduced Libido or Erectile Dysfunction

CAH treatment may include the use of glucocorticoid therapy, also referred to as steroids. Glucocorticoids are a synthetic (labmade) version of cortisol that can be used to lower androgen levels in CAH. While glucocorticoid treatment may be useful for treating abnormal hormone levels, they might result in side effects like reduced libido (sexual interest) or erectile dysfunction (inability to achieve or maintain an erection).

Potential for Adrenal Crises

It’s important for people with CAH 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 very low.

Signs and symptoms of an adrenal crisis can include:

• Vomiting or diarrhea
• Severe weakness
• Confusion or sleepiness
• Low blood pressure
• Dehydration
• Weight loss

Adrenal crises may be more likely to occur during periods of physical stress, illness, or injury. During these times, 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) to monitor the condition. Regular monitoring, treatment adjustments as needed over time, and supportive care are essential to managing the symptoms of CAH throughout all stages of life.

Talk With Others Who Understand

On CAHteam, the site for people with congenital adrenal hyperplasia and their loved ones, people come together to gain a new understanding of CAH and share their stories with others who understand life with the condition.

Are you or a loved one living with CAH? How have CAH symptoms affected you or your loved one? Share your experience in the comments below.