Congenital adrenal hyperplasia (CAH) causes hormone imbalances that can cause different symptoms, depending on the type of condition and on the person affected. For example, researchers believe that CAH has a bigger impact on the lives of women than men, according to the Journal of Clinical Medicine. This is due to imbalances in androgens, sometimes called the “male sex hormones.” Additional hormone imbalances involving cortisol and aldosterone can cause other CAH symptoms.

CAH affects everyone differently, based on the type of CAH, severity of CAH, and sex. This article will explore how CAH affects girls and women from infancy to adulthood.

CAH Symptoms Early in Life

Babies and children who have symptoms of CAH usually have classic CAH, which is a rarer and more serious form of CAH. Newborn screenings test for classic CAH because, if it isn’t diagnosed early, classic CAH can cause life-threatening symptoms.

Newborns with nonclassic CAH, the other form of the disease, usually don’t have any symptoms. The newborn screening test for classic CAH doesn’t detect nonclassic CAH, so most of these cases aren’t diagnosed until adolescence or adulthood.

Adrenal Crisis

An adrenal crisis is a life-threatening condition that can occur when the adrenal glands don’t make enough cortisol. Cortisol is a hormone that helps regulate the body’s stress response. A baby with untreated classic CAH may have an adrenal crisis that causes shock (lack of blood flow), organ damage, or death.

Infants with severe classic CAH may develop symptoms of an adrenal crisis within 10 to 20 days after birth. The symptoms include:

• Vomiting
• Diarrhea
• Low blood pressure
• Shock

Early diagnosis and treatment can help avoid an adrenal crisis in babies.

Atypical External Genitalia

External genitalia that don’t look typical for female infants is a symptom of classic CAH, according to Mayo Clinic. They may have genitalia that appear male, or it may be unclear if their genitalia are male or female (ambiguous genitalia). Although the external genitalia may not appear typical, the internal reproductive organs (including the uterus, fallopian tubes, and ovaries) usually develop normally.

Differences in infants with classic CAH may include:

• An enlarged clitoris that resembles a penis
• A partially closed labia that may resemble a scrotum
• A combined opening for urine leaving the body and for the vagina, instead of two separate openings

Reconstructive surgery can help make atypical genitalia look more typical. Some parents opt to delay the procedure until a child can understand the risks involved and make choices. It’s important for the family and health care team to discuss the timing of the surgery.

CAH Symptoms in Adolescent Girls

Adolescence is the period between childhood and adulthood. Rapid changes, such as puberty and growth spurts, mark adolescence. Hormones, including androgen hormones, play an important part in these rapid changes. Both classic and nonclassic CAH can raise androgen levels, causing symptoms during this period of life.

Early Puberty

Puberty refers to the physical changes the body goes through to reach sexual maturity. Girls typically begin puberty between ages 8 and 13, according to Cleveland Clinic. If puberty begins before age 8, it’s referred to as early puberty. Early puberty may be one of the first symptoms of nonclassic CAH in girls, according to the journal Frontiers in Endocrinology.

Symptoms of early puberty with CAH may include:

• Voice changes
• Severe acne
• Early appearance of armpit and pubic hair

When these changes occur without other signs of early puberty (such as breast development or menstrual periods), this condition is known as premature (early) adrenarche. The other features of puberty are likely to occur later, when normally expected.

Irregular Menstrual Periods

Menstrual periods begin during puberty, often around age 12. Irregular periods may occur in CAH due to high androgen levels. With CAH, periods may occur less frequently than normal or not at all. Irregular periods can continue into adulthood.

Acne

Acne is a skin condition that causes pimples when oil and dead skin clog pores and hair follicles. Higher-than-normal androgen levels due to classic or nonclassic CAH can increase the amount of oil the skin makes, causing acne to develop.

Excess Facial or Body Hair

High androgen levels can cause hirsutism (excess facial hair and body hair). Excess or unwanted hair is one of the most common symptoms of CAH.

Rapid Growth

Androgen is important for normal growth and development in adolescence, but too much of this hormone can cause rapid growth in childhood. Rapid growth can also make bones more developed than usual for a child’s age.

CAH Symptoms in Adults

CAH can cause different symptoms in adults based on the type and severity of the condition. Some symptoms can also be caused by the side effects of CAH treatments.

Shorter-Than-Expected Adult Height

Although CAH can cause rapid growth in childhood, it can ultimately result in a shorter-than-expected adult height. The fast growth can end prematurely, leading to a short stature as an adult. Glucocorticoid medications (such as hydrocortisone) that are used to treat classic CAH can also suppress growth.

Although CAH can cause rapid growth in childhood, it can ultimately result in a shorter-than-expected adult height

Osteoporosis

Osteoporosis is a condition related to CAH that causes weak bones and an increased risk of fractures (broken bones). Osteoporosis is already more common in people assigned female at birth than in those assigned male at birth, according to Cleveland Clinic.

CAH symptoms and side effects of CAH treatments can lead to osteoporosis. Because bones can be more developed than typical for one’s age with CAH, bone mass also can peak earlier than usual. Hormone imbalance and long-term use of glucocorticoid medications can also weaken bones and lead to osteoporosis.

Infertility

Infertility is a condition that makes it difficult or impossible to get pregnant. CAH can contribute to infertility because of several factors, including:

• Increased androgen and progesterone hormones
• The effects of genital surgery
• Irregular menstrual periods

Overall, people with CAH have fewer pregnancies than those without CAH. Some people with nonclassic CAH may not know they have the condition until they try to become pregnant. Having a more severe form of CAH (such as classic CAH) may make it more difficult to get pregnant. When pregnancy does occur, it’s usually normal but does require careful monitoring of the cortisol dose for CAH treatment, including during delivery.

Body Image Issues

“Body image” refers to how you see and feel about your body, including how your body works, your shape, and your gender identity. Studies have found that women with CAH may be less satisfied with their body image, according to a 2022 study in the Journal of Clinical Medicine.

The study authors reported that several factors related to CAH can affect body image. Women with classic CAH who have atypical genitalia may experience unfair treatment regarding their gender. Additionally, they may be less satisfied with romantic relationships and have fewer partnerships. Having a deep voice, excess facial and body hair, or adult acne may also affect body image.

Obesity (a higher body weight), another factor that’s common with CAH, can have a negative impact on quality of life, according to the researchers. Excess androgen levels and glucocorticoid side effects can contribute to obesity and weight gain in CAH.

Health care providers, friends, and family can help support a positive body image, noted the authors. The benefits of receiving this type of support in childhood and adolescence can last into later life, helping to improve quality of life for those living with CAH.

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.