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Hormones affect almost every part of the body. When they’re out of balance, the effects can show up in many ways. That’s what happens in congenital adrenal hyperplasia (CAH), a condition that causes hormone changes in the body. These changes lead to different symptoms depending on the type of CAH and the person affected.
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Research published in the Journal of Clinical Medicine suggests that CAH may have a greater impact on women than men because of higher levels of androgens, hormones often called “male sex hormones.” Other hormone changes, such as those involving cortisol and aldosterone, can also cause different CAH symptoms.
CAH can look very different from person to person, depending on the type, severity, and sex. This article explores how CAH affects girls and women from infancy to adulthood.
Babies and children with symptoms of CAH usually have classic CAH, which is the more severe form. Symptoms can be different from those in nonclassic CAH, the milder form. There are two forms of classic CAH. The salt-wasting form causes the body to make very little of both cortisol and aldosterone. The simple virilizing form allows the body to make aldosterone but very little cortisol. Classic salt-wasting and simple virilizing CAH have some differences in symptoms.
Newborn screening tests for classic CAH because without treatment, CAH can be life-threatening.
Newborns with nonclassic CAH usually don’t have symptoms, and newborn screening is designed to detect classic CAH, not nonclassic CAH. Most of these cases aren’t diagnosed until adolescence or adulthood.
An adrenal crisis is a life-threatening condition that can develop when the adrenal glands don’t make enough cortisol. Cortisol helps the body respond to stress. Without enough cortisol, a baby with untreated classic CAH can have an adrenal crisis that may cause shock (too little blood flow to organs), organ damage, or even death.
Infants with salt-wasting classic CAH may develop a salt-wasting adrenal crisis within days after birth. Those with simple virilizing CAH may have an adrenal crisis, but it’s less likely. The signs and symptoms include:
Early diagnosis and treatment of CAH can help avoid an adrenal crisis in babies.
External genitalia that don’t look typical for female infants are a sign of both types of classic CAH, according to Mayo Clinic. Females may have atypical genitalia.
The genitals of female infants with classic CAH may look different. They can include:
Reconstructive surgery for females with CAH can sometimes improve how the genitals work or make their appearance more typical. Some parents choose to wait until a child is old enough to understand the risks and take part in the decision. Families and healthcare teams should talk together about the benefits, risks, and best timing of surgery.
Although the female external genitalia may not appear typical, the internal reproductive organs develop normally. Girls with both classic and nonclassic CAH usually have normal internal reproductive anatomy. This includes having a uterus, fallopian tubes, and ovaries.
Early 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 development to look different during this period of life.
Puberty is when the body changes to become sexually mature. 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 signs of nonclassic CAH in females and may occur in both types of classic CAH.
Symptoms of early puberty with CAH may include:
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 may occur later.
Menstrual periods begin during puberty, often around age 12. Irregular periods may occur in CAH due to high androgen levels. With both types of CAH, periods may occur less frequently than normal or not at all. Irregular periods can continue into adulthood.
Acne is a skin condition that causes pimples when oil and dead skin clog pores and hair follicles. Higher-than-normal androgen levels in both forms of CAH can increase the amount of oil the skin makes, causing acne to develop.
High androgen levels can cause excess facial hair and body hair. Excess or unwanted hair is a possible symptom of all types of CAH.
Androgen is important for normal growth and development in adolescence, but a high level can cause rapid growth in childhood. Rapid growth can also make bones mature faster than usual for a child’s age in both types of CAH.
CAH can look different in adults based on the type and severity of the condition. Some symptoms can also be caused by the side effects of CAH treatments.
Although both kinds of classic CAH and possibly nonclassic 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.
Bone changes may happen in people with all types of CAH, so osteoporosis may be a risk. Osteoporosis causes weak bones and an increased risk of broken bones. Osteoporosis is already more common in females than in males, per Cleveland Clinic.
CAH and side effects of CAH treatments can lead to osteoporosis. In people with CAH, bones may mature faster than normal, so bone strength can peak earlier than usual. Hormone imbalance and long-term use of glucocorticoid medications can also make bones weaker and lead to osteoporosis.
Newer medications may help avoid or limit some of these side effects. In December 2024, the U.S. Food and Drug Administration (FDA) approved a treatment called crinecerfont (Crenessity) for classic CAH. This new medication is designed to lower excess androgen levels, which may allow endocrinologists to reduce the amount of glucocorticoids needed to manage CAH. Lowering glucocorticoid doses to your body’s more natural levels may help reduce side effects.
Infertility is a condition that makes it hard or sometimes impossible to conceive (become pregnant). All types of CAH can contribute to infertility because of several factors, including:
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 may make it more difficult to become pregnant. When pregnancy does happen, it’s usually normal, but requires careful monitoring of the cortisol dose for CAH treatment, including during delivery.
“Body image” means how you see and feel about your body — how it looks and how it works. Studies have found that women with CAH may be less satisfied with their body image, according to the Journal of Clinical Medicine.
The study authors reported that several factors related to CAH can affect body image. Women with either type of 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, which may be more common with both classic and nonclassic CAH, can have a negative impact on quality of life, according to researchers. Glucocorticoid side effects are mainly what contributes to obesity and weight gain in CAH.
Healthcare providers, friends, and family can help support a positive body image, noted the study 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.
If you or your child has symptoms of CAH, talk with your doctor about testing, treatment, and ongoing care. CAH affects hormone levels and can cause different symptoms depending on the type and how severe it is. Seeing an endocrinologist — a doctor who specializes in hormones — can help you understand treatment options and manage long-term effects. Regular checkups are important to make sure medicines are working, support healthy growth, and protect bone and reproductive health.
On CAHteam, people share their experiences with CAH, get advice, and find support from others who understand.
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