When Your Child Has a Disorder of Sexual Development (DSD)

What is a DSD?

When a child is born, the sex (also called gender) can usually be determined by looking at the baby’s sex organs (genitalia). In some children, the sex is not obvious. This is because the child’s genitals didn’t develop correctly.

How do genitalia normally form?

Many steps must happen during development in the womb to determine a baby’s gender.

Beginning at conception, the mother and father’s DNA combine to create a female or male embryo. Each embryo starts out with two gonads and no sexual organs. The gonads eventually become the ovaries in a female and the testes in a male. Other reproductive structures, such as the uterus in females, start forming inside the baby. These structures may be referred to as internal genitalia. Around weeks 6 or 7, the external genitalia (vagina or penis) start to form.

What causes a DSD?

Something likely disrupted the development of your child’s sex organs while in the womb. This doesn't mean that you did something to cause your child’s condition. It's not really known why some children’s genitalia don't form normally. Certain factors may make ambiguous genitalia more likely to occur in some children. Your healthcare provider can discuss with you any factors that may have led to ambiguous genitalia.

How are DSDs diagnosed?

Tests can help your healthcare team collect important information about your child’s development in the womb. This information is vital in helping you decide the most appropriate sex in which to raise your child. Tests may include the following:

• Blood tests to check DNA and measure hormone levels

• MRI to study internal structures, such as gonads

• Ultrasound to take images of internal genitalia

• Genitogram to help identify internal genitalia. This is an X-ray image of your child’s reproductive structures or sexual organs.

Occasionally, surgery and a biopsy are needed in complicated cases.

How are DSDs treated?

Treatment depends on the type of DSD a child has. Some DSDs are treated with surgery. This may involve reconstructing external genitalia or removing internal genitalia. In some cases, more than 1 surgery is needed. Medicine may also be used to treat certain DSDs.

When should surgery be done?

If surgery is needed, your child’s healthcare team will discuss with you when is the best time to operate. In some cases, it's advised to wait until adolescence. This is to give your child more time to grow.

Who will help care for my baby?

Always remember that you're not alone. A team of specialists will help you care for your child. This team will include some or all of these key members:

• Pediatric urologist. This is a healthcare provider who specializes in diagnosing and treating problems of the female and male urinary tract in children.

• Endocrinologist. This healthcare provider specializes in diagnosing and managing conditions related to hormones.

• Reproductive endocrinologist. This healthcare provider specializes in diagnosing and managing hormonal conditions that affect reproduction and development.

• Genetic specialist. This specialist can help determine whether what caused your child’s condition is genetic (runs in your family). This will help you know whether children you have in the future are more likely to have a DSD.

• Psychologist or social worker. These healthcare professionals are specialists who help your child and family cope with emotional, social, and financial issues that may arise due to your child’s condition.

• Primary healthcare provider: This is a healthcare provider who specializes in the general health needs of people.

• Nurses. Nurses care for your child and tend to your child’s needs in the hospital or clinic.

What about my child’s future?

It’s important to talk openly with your child’s healthcare team. Be sure to discuss any questions or concerns you have with them. Common questions include:

• Should I raise my child as a male or a female? Who will help me decide?

• At what age is it appropriate to tell my child about the DSD diagnosis?

• Should my child have surgery? If yes, at what age?

• Will my child need hormone therapy? If yes, at what age should my child start the therapy?

• Will my child ever be able to have sex?

• Will my child be able to have children in the future?

Doing what’s best for your baby

It’s important to be patient regarding the sex of your child. As you now know, many factors can influence a child’s gender. It’s not just the appearance of the external genitalia. So work closely with your child’s healthcare team. They will help you learn more about your baby so you can decide the best sex in which to raise your child. This will help your child live a happy, normal life.

Tips for parents

Keep in mind the following:

• You are not alone. Members of your child’s healthcare team will help guide you.

• Treatment is available. Counseling, medicine, and surgery can help your child live a normal life.

• There are things you can do to help your child get a good start. Ask your child’s healthcare team for suggestions.

Coping

You’re probably feeling many emotions right now. You may feel worried thinking about your baby’s future. You may feel pressure to decide the sex of your child right away. Remember that you have time to make this decision. Most importantly, remember that your child needs to be loved, touched, and comforted. You should also get support for yourself. Support groups are available so you can talk with other parents of children who have DSDs.

To learn more

If you have questions, talk to your child’s care team. Also, look in your local library or bookstore. These online resources can also be helpful:

• American Urologic Association at www.urologyhealth.org/pediatric

• CARES Foundation at www.caresfoundation.org

• American Academy of Pediatrics at www.aap.org