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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.

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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.

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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.

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.

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. 

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

Height

Body weight

Fertility

Cognitive development (intelligence)

How does CAH affect gender behavior?

Key terms to know:   

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.

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References

Written and compiled by Kyla Boyse, RN and Talyah Sands.  Reviewed by David E. Sandberg, Ph.D.

May 2011

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