Starting a Family When You Have Congenital Adrenal Hyperplasia

Congenital adrenal hyperplasia (CAH) is a genetic condition that can affect people of any sex. This is a rare condition that can require lifelong treatment. If you or your partner has CAH and you are thinking about starting a family, there are several important things to consider.¹

Overview of congenital adrenal hyperplasia (CAH)

CAH is a genetic condition that affects the adrenal glands. These glands produce hormones that are vital for regulating many functions in the body, including hormones that affect:¹

• The body's stress response
• Blood pressure
• Sexual development

People with CAH lack an enzyme responsible for making 1 or more of these hormones. As a result, they have hormone imbalances that need careful management. Treatment for CAH consists of taking steroids to replace the hormone(s) the body cannot make.¹

Understanding health and infertility risks

CAH comes in 2 main forms: classic and nonclassic. The classic form is more severe and is usually diagnosed at birth. The nonclassic form is milder and may not be diagnosed until later in life.^1,2

Both classic and nonclassic CAH may cause infertility. But with proper medical treatment, people with CAH may be able to conceive and have children. Some can conceive and have children naturally. Others will need the help of fertility treatment.^1,2

Men with CAH may experience infertility due to hormonal imbalances. Women with CAH may have a hard time getting pregnant due to:^2,3

• Irregular menstrual cycles
• Reduced estrogen levels
• Difficulties with vaginal intercourse, due to genital abnormalities

People with CAH may face other health challenges when considering pregnancy. For example, the risk of mood disturbances, gestational diabetes, and miscarriage may be slightly higher for those with CAH than the general population.^2,3

Managing CAH during pregnancy

If you are pregnant and have CAH, you still need to take your prescribed medicine to manage hormone levels. But you may need to switch to a different type of steroid that is safer to take while pregnant, such as hydrocortisone or other corticosteroids. Your doctor will guide you on the correct dosage. You will be closely monitored to see if any adjustments to medicine are needed. This helps keep both mother and baby healthy.^2-4

Pregnancy can put extra strain on the body. Research shows that people with CAH who are pregnant may have a greater risk of developing gestational diabetes. If this is the case for you, talk to your doctor about managing your blood sugar.^2-4

Regular checkups with your healthcare team are essential during pregnancy to ensure you and your baby are doing well. Your team may include:

• An obstetrician
• An endocrinologist
• A genetic counselor

Genetic counseling and family planning

Genetic counseling is a valuable resource for anyone with CAH who is thinking about starting a family. A genetic counselor can help you understand the chances of passing CAH on to your children and explain the different options for testing and family planning.^2,3

If both parents are carriers of the CAH gene, there is a greater chance that the baby will inherit classic CAH. Genetic testing can help determine the risk for future children.^2,3

In some cases, couples may choose fertility treatment with genetic testing to help reduce the risk of having a child with CAH. Genetic counseling can help you make informed decisions about your family’s future.^2,3

Prenatal management of CAH

Prenatal testing can be done to determine if a baby has classic CAH. This can be done by taking samples of the cells around your growing baby (amniocentesis or chorionic villus sampling). Early diagnosis can help parents and doctors plan for the baby's care.^1,2