Congenital Adrenal Hyperplasia (CAH)
Effects on Girls and Boys
What is CAH like in girls?
Girls and boys with untreated CAH make too much androgen. This starts even before they are born. Since androgen is a male-type hormone, it changes how a baby girl develops. While the internal sex organs (fallopian tubes, ovaries, uterus and upper vagina) develop typically, the external genitals may not look like typical female genitals. This difference in sex development is one of a group of conditions called disorders of sex development or DSD.
We highly recommend visiting these external links before you read further:
- AboutKidsHealth has an interactive picture to help you understand all the parts of female genital anatomy.
- See how the anatomy of the genitals can vary between typical male and typical female appearance (the Prader scale).
Surgery is used to make the genitals look more typical, but it may cause harmful side effects and affect future sexual function and quality of life. The surgery is very delicate, and is not always completely successful. Some women with CAH who had surgery as babies wish they had not had it. This risk of surgery needs to be weighed against concerns over parenting a child with unusual genital appearance.
Take your time to decide about surgery that is elective and not medically necessary. There’s no reason to rush into elective surgery. Talk to your health care team and your family, and be sure you feel very comfortable with your decision. Your child’s health is most important, and elective surgery might not be the best choice. If you are feeling pressure to quickly change the appearance of your daughter’s genitals because of worry about how friends or family may react, seek out advice from members of the health care team and organizations such as the CARES Foundation.
We highly recommend visiting these external links:
- You can find in-depth information about surgery at the CARES Foundation website.
- CAH can cause the clitoris to be enlarged, and surgery can affect its function. Learn about clitoris anatomy.
If you decide on surgery, you will need to decide when to do the procedure. Your medical team and other social supports can help you weigh the options. Find out about the pros and cons of doing surgery early, later, or waiting until your daughter is old enough to decide for herself. If there is no urgent, medical need for surgery, it is okay to continue to think about the options and make a decision later. There is not a right or wrong decision, but it is important to make a choice that fits best for your child and family. In any case, a girl with CAH can lead a normal, healthy life with support and treatment from family and the medical team.
Look again at the animation of the Prader scale, which is a way to describe what a baby’s external genitals look like (try opening it in another window, so you can keep reading). See how at Prader stage 2, the urethra and vagina share a single opening called the urogenital sinus? This single opening can cause urine to backflow into bladder and cause infection. Find out more about this condition in the first article below.
- Surgery Consideration for Girls with Classical CAH—read this information from CARES Foundation .
- Recommended reading on timing of surgeries, from the DSD Guidelines.
If and when you choose surgery, it is important to find a surgeon that you feel comfortable with and trust. You should make sure your surgeon has experience in treating children with CAH. Ask surgeons questions to "interview" them about their experience, and feel free to meet with more than one before you make your selection. Your daughter's other health care providers may be able to recommend surgeons to you.
- DSD Guidelines has information about what kinds of questions to ask.
- "Know your Rights" is offered by Advocates for Informed Choice (AIC). It is a guide for parents on advocating in the health care system for children born with variations of sex anatomy.
- Also in Spanish: Conozca sus Derechos: Una guía para los padres.
Other parents of children with CAH who have, or have not, chosen surgery can also give you advice. How to find them? Try a CARES support group—many states have them. The Magic Foundation can help you find and network with other families affected by CAH. The Parent to Parent Network may also be able help you connect to parents in your area who have gone through a similar decision-making process.
Girls with untreated or poorly-controlled classical CAH often go through puberty very early (called precocious puberty), can develop excessive body and facial hair (hirsutism), a deep voice, and abnormal menstrual cycles (or periods). Unless the amount of androgens produced is brought under control with cortisol replacement, it might not be possible for the woman with CAH to become pregnant. With proper treatment and support, your daughter with CAH will avoid all these problems and can lead a healthy, fulfilling life.
What is CAH like in boys?
Boys born with CAH will look the same as other boys at birth. However, just like girls, without treatment, they may have precocious (very early) puberty. When they grow up, poor control of hormones may cause lower sperm counts, but men with CAH can usually father children.
Some young men with classic forms of CAH develop adrenal rest tumors on the testes. These are also called testicular adrenal rests or testicular tumors of adrenogenital syndrome (adrenogenital syndrome is another name for CAH). They are more likely to occur in boys with salt-wasting CAH, who don’t receive the correct amount of hormone replacement. Boys with CAH should start having careful testicular exams and an ultrasound of the testes starting around puberty.
- Find out more about fertility and testicle problems in boys with CAH
With treatment and support from family and the medical team, your son with CAH can lead a healthy, fulfilling life.
What are the other medical effects of CAH?
Early sexual development
- Excess male hormones can cause puberty to begin early for children with CAH
- Treatment is available for these symptoms (talk to your child's doctor about the options)
- Learn more about early puberty:
- Too many androgen hormones can cause a child with CAH to experience a growth spurt at an early age
- Child may be tall during childhood if they do not get proper treatment
- Excess androgen makes the growth plates close earlier, causing the child to stop growing. Then, as an adult, they will be shorter than would be expected based on parents’ heights
- Treatment with growth hormone can increase growth rate and height for some children, although this use has not been approved by the Food and Drug Administration.
- Excess cortisol affects appetite and metabolism, making it easy to gain weight
- Healthy eating and regular physical activity can help keep weight under control
- A member of your child’s health care team can guide you on how to manage your child's diet and weight
- Find out more about overweight children and how families can help their children reach and maintain a health weight.
- Girls' menstrual periods may be irregular because CAH affects the ovaries (when control is not optimal)
- Not all girls with CAH who get treatment will have normal periods
- Men and women with CAH can still have children
- Taking medication as recommended by an endocrinologist will help protect against decreased fertility
Cognitive development (intelligence)
- Boys and girls with CAH who receive good care early in life, will have normal intelligence.
- An adrenal crisis (if the child gets ill or injured and cannot produce enough hormones to adequately respond to the situation) can affect an infant’s brain
- An adrenal crisis can be life-threatening
- If crises are severe, and happen often, and do not receive treatment, they can cause developmental delay
- In an adrenal crisis, immediately seek emergency medical attention
- If medical care is delayed, give the child an injection of cortisol (see emergency instructions)
- Keep these emergency instructions handy
How does CAH affect gender behavior?
Key terms to know:
- Gender Identity: The gender that a person identifies with. It is usually the same as one’s biological sex; when it is not same, it can cause distress.
- Gender Roles: Expectations in society for how people should act based on their biological sex. These may be very stereotyped and reflect the common view of the society. Gender role refers to a range of behavior or interests—being more or less masculine or feminine. For example, a girl may like to roughhouse and play with trains. We might call her a “tomboy,” because she doesn’t fit the typical female gender role. Gender roles change over time in society. For example, not that long ago, few women became medical doctors; today, the majority of students entering medical schools are women.
- Sexual Orientation: Being attracted to the same or the opposite sex, or both. For example, a person could be homosexual (gay or lesbian), heterosexual (straight), or bisexual (attracted to both men and women).
Every child is unique, with their own personality. In CAH, the exposure to high levels of androgens can influence girls’ behavior (gender role). It is common for girls with CAH to play more with typical “boy” toys or act like "tomboys" Almost all girls with CAH, however, still have a gender identity of girl or woman.With the right support, children with CAH can grow up happy and healthy regardless of their gender identity, gender roles or sexual orientation. Health care for CAH should include professionals who can give psychological and emotional support to the family and, as they get older, to the child. Having a chronic medical condition can be a stressor for all involved.
Related pages on YourChild:
- Disorders of Sex Development (DSD) (for caregivers of girls with CAH)
- Children with Chronic Conditions
- Early Puberty
- Developmental Delay
Related YourChild podcasts:
- Disorders of Sex Development Podcast Part 1 (for caregivers of girls with CAH)
- Disorders of Sex Development Podcast Part 2 (for caregivers of girls with CAH)
- Early Puberty Podcast
- Growing Up Short in a Tall World Podcast
Written and compiled by Kyla Boyse, RN and Talyah Sands. Reviewed by David E. Sandberg, Ph.D.