People with congenital adrenal hyperplasia (CAH) may develop comorbidities (other health conditions) associated with the disease. Conditions related to CAH can develop due to hormone imbalances caused by CAH or as a side effect of certain CAH treatments.

Continue reading to learn about seven conditions related to CAH.

1. Cushing’s Syndrome

Cushing’s syndrome — also called “Cushing’s disease” — is a condition when a person’s body has too much of the hormone cortisol. Cortisol is a steroid hormone produced by the adrenal glands, which are located on top of the kidneys. It is often referred to as the "stress hormone" because it is released in response to stress and low concentration of blood glucose (blood sugar).

At first, it may seem strange that CAH can be related to a condition with too much cortisol. In CAH, the adrenal gland doesn’t make enough cortisol due to enzyme deficiencies. However, people with CAH may develop Cushing’s syndrome from high doses of glucocorticoid (steroid) medications used to replace low cortisol levels. Long-term use of these medications can lead to the symptoms associated with Cushing’s syndrome.

Symptoms of Cushing’s syndrome can include:

• A round face
• Easy bruising
• Poor wound healing
• Hypertension (high blood pressure)
• Excessive face and body hair growth
• High blood sugar
• Purple stretch marks on the stomach, breast, or hips
• Increased fat between the shoulders at the base of the neck
• Fatigue
• Weakness

Your health care team will monitor you for signs and symptoms of Cushing’s syndrome. They will adjust your dose of glucocorticoid medications to avoid these symptoms.

2. High Blood Pressure

High blood pressure occurs when the force of the blood pushing on the walls of your blood vessels is too high. Over time, high blood pressure causes damage to your blood vessels.

People with CAH are at an increased risk for high blood pressure than the general population. Although high blood pressure is usually associated with older age, it often occurs in children and infants with CAH. Researchers have found that anywhere between 20 percent and 66 percent of children with CAH have high blood pressure.

Hormone imbalance from CAH and medications can cause high blood pressure in people with CAH. Changes in aldosterone levels (a hormone impacted by CAH) can make it harder for your body to regulate blood pressure. Additionally, increased levels of androgen hormones — sometimes referred to as “male sex hormones” — caused by CAH can also cause increased blood pressure.

Medications used to treat CAH can also cause high blood pressure, including:

• Hydrocortisone
• Fludrocortisone
• Salt supplements

Your health care team will closely monitor your blood pressure and adjust your medication dose to avoid high blood pressure.

3. Overweight and Obesity

Overweight and obesity are chronic (long-term) health conditions that develop when your weight is higher than what’s considered healthy for your height. A person is considered to have overweight if their body mass index (BMI) is 25 to 29.9 and to have obesity if their BMI is 30 or higher.

It’s estimated that between 30 percent and 40 percent of people with classic or nonclassic CAH have obesity. In the United States, around 42 percent of adults and nearly 20 percent of children and adolescents have a BMI defined as obese. Studies on body weight in CAH have mixed results regarding whether CAH is associated with obesity.

Hormone imbalance and CAH treatment can contribute to weight gain and obesity in people with CAH. In women, excess androgen levels caused by CAH can also contribute to higher body weights, according to research in Frontiers in Endocrinology.

Weight gain and increased appetite are common side effects of glucocorticoid medications. People taking glucocorticoid medications to treat CAH have an increased risk of overweight and obesity.

Other risk factors for overweight and obesity in people with CAH include:

• Higher glucocorticoid dose
• Older age
• Advanced bone maturation caused by rapid growth
• A family history of obesity

4. Diabetes

Diabetes is a condition that develops when your blood glucose levels are too high. People with diabetes have high blood sugar levels if their pancreas doesn’t make enough of the hormone insulin or if their body doesn’t respond to insulin the way it should (called insulin resistance). People with CAH may develop diabetes due to hormone imbalances and medications.

Hormone imbalance caused by CAH can cause insulin resistance and diabetes. Low testosterone levels in men can increase the risk of insulin resistance, according to research in Frontiers in Endocrinology. In women, high levels of androgen hormones are associated with insulin resistance, according to the research.

Long-term use of glucocorticoid medications to treat CAH increases the risk of diabetes in people with CAH. Glucocorticoid medications increase your risk of diabetes in several ways, including:

• Increasing insulin resistance
• Increasing the amount of sugar your liver makes
• Decreasing the amount of insulin your body makes

Your risk of diabetes is related to the type and dose of glucocorticoid. Studies have found that people taking dexamethasone are more likely to develop insulin resistance than people taking prednisolone or hydrocortisone.

5. Heart Disease

Heart disease refers to health conditions that affect your heart, the most common of which is coronary artery disease (CAD). Heart disease often doesn’t have any symptoms, but it can cause a heart attack, heart failure, or heart arrhythmia (irregular heartbeat).

Heart disease is common in people with CAH. Several conditions associated with CAH are also risk factors for heart disease, including high blood pressure, obesity, and diabetes. Additionally, high blood pressure in childhood is a risk factor for poor heart health later in life.

Talk to your health care provider about your risk factors for heart disease.

6. Osteoporosis

Osteoporosis is a condition that causes weak bones and low bone density. People with osteoporosis are more likely to have a bone fracture (break). Hormonal imbalance and CAH treatment can cause osteoporosis in people with CAH.

Osteoporosis is usually associated with older adults. However, rapid growth in childhood can increase bone age. Additionally, an imbalance in sex hormones, such as estrogen and androgens, can lead to decreased bone mass.

Glucocorticoid treatment for CAH is the main risk factor for osteoporosis in CAH. Glucocorticoid medications can make your bones weaker in several ways, including:

• Stimulating your body to break down your bones
• Slowing the process of building new bone
• Making it harder for you to absorb calcium from your diet
• Affecting sex hormone levels

Your health care team will monitor your bone density while you’re taking glucocorticoid medications.

7. Infertility

Infertility is the medical term for a couple being unable to get pregnant. Both males and females with CAH can have fertility problems due to hormone imbalances.

Infertility in Women

Females with CAH typically have fewer pregnancies compared to the general population, according to a review in the journal Experimental and Clinical Endocrinology & Diabetes. Increased androgen hormones and the effects of genital surgery in individuals with CAH can make it harder to become pregnant.

Individuals with more severe forms of CAH may have a more difficult time becoming pregnant. Studies have found that less than 10 percent of women with the more severe form of classic CAH (salt-wasting CAH) become pregnant, according to research in the journal Fertility and Sterility. Between 33 percent and 60 percent of women with the less severe form of classic CAH (simple-virilizing CAH) become pregnant, according to the research.

Infertility can be the first symptom people with nonclassic CAH notice. However, many women with the nonclassic form of CAH can get pregnant without any treatment, per the Fertility and Sterility article. Although getting pregnant may be more difficult for those with CAH, many have normal pregnancies.

A person with CAH who wishes to get pregnant can work with their endocrinologist (a provider who specializes in treating hormone conditions) and gynecologist (a provider who specializes in female reproductive health) for proper treatment.

Infertility in Men

Males with CAH may have difficulty getting a partner pregnant, according to the review in Experimental and Clinical Endocrinology & Diabetes. Testicular adrenal rest tumors (TARTs) are the most common cause of infertility in males with CAH. While TARTs are benign (noncancerous), they can cause problems with fertility.

TARTs can form as a result of hormone imbalance in CAH. Men with more severe forms of CAH are more likely to develop TARTs and have infertility. About half of men with the more severe salt-wasting classic CAH develop TARTs, according to research in Endocrine Reviews. The research notes that about 22 percent of men with the less severe simple-virilizing classic CAH develop TARTs.

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 family member living with CAH? What questions do you have about conditions related to CAH? Share your experience in the comments below.