Disorders of Sexual Development: Diagnosis and Treatment

How do doctors diagnose disorders of sexual development?

Doctors can diagnose disorders of sexual development (DSD) in one or more of the following ways:

• Physical exam. In the beginning, doctors will do a careful physical exam of your child’s body and genitals.
• Family history. The doctors will ask the mother and father about other children in the family with similar problems and any exposures to chemicals before birth.
• Check the development of your baby’s chromosomes (pieces of genetic material). Chromosomes are usually checked with a blood test or a cheek scraping (when doctors gently swipe a cotton swab against the inside of your baby’s cheek and check it under a microscope).
• Blood tests to check different blood chemicals related to adrenal gland development and development of the sex glands. This can help identify conditions like congenital adrenal hyperplasia (CAH), which may require rapid treatment.
• Imaging tests to check the anatomy of the outside and inside genitals. This can include X-rays, ultrasounds or a special exam by a trained doctor.
• Genetic testing can check all the genes in the body and see if any are likely to have caused DSD. Results from genetic testing can take days to months to come back, depending on the test type or results.

What are chromosomes and how do they work?

Chromosomes are pieces of genetic material that contain all the information needed to control development and body function throughout life. Most girls have 2 X chromosomes (XX) and 46 chromosomes in total. Most boys have one X and one Y chromosome (XY) with 46 chromosomes in total. The X and Y chromosomes are called sex chromosomes. The other chromosomes are called autosomes. If there is a problem in how the sex chromosomes or other autosomes develop, doctors can often find these through genetic testing.

How do doctors treat disorders of sexual development?

Treatment for DSD is based on what is causing the condition. You and your family are an important part of your baby’s care team. Doctors will talk with you about your baby’s condition and their sex of rearing. The sex of rearing is the sex assigned to your baby before they go home. The care team can help you make the decision about your baby’s sex. This does not have to be a permanent decision. As babies grows up, they can learn how to express their gender identity.

Many babies grow up to be comfortable with their sex of rearing. However, some babies with DSD decide they might be more comfortable with a different gender when they are older. Emotional and psychological support from you and your baby’s care team is important no matter what decisions are made.

Depending on the reason for DSD, some people may not be fertile because their bodies cannot make eggs or sperm. However, this does not interfere with the ability to lead a good life, to marry (if wished), adopt children (if wished) or have children by other means. If you have questions or concerns about your baby’s fertility when they are older, please ask the care team.

About your baby's care at Mass General for Children

When babies with DSD are born, it takes a well-organized team of doctors and other medical providers to understand why DSD has happened and provide the best care possible. In some cases, people with DSD receive diagnoses long after birth. At Mass General for Children (MGfC), our team-based, family-centered approach can help manage your baby’s condition and help them have the best possible life. Throughout their life, your baby might see many specialists, including endocrinologists (hormone doctor), geneticists (genetics doctors), specialized surgeons (who can help treat physical genital differences), psychiatrists, psychologists (mental health doctors) and social workers. At MGfC, you and your family are also important members of the care team.

The sex determined by the chromosome is also important. Babies who have XX chromosomes usually have different reasons for DSD than those who have XY chromosomes. Based on your baby’s test results, they can help develop a care plan.

Rev. 7/2019. Mass General for Children and Massachusetts General Hospital do not endorse any of the brands listed on this handout. This handout is intended to provide health information so that you can be better informed. It is not a substitute for medical advice and should not be used to treatment of any medical conditions.