How Do Doctors Diagnose Disorders of Sexual Development (DSD)?

Doctors can diagnose 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.

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Rev. 7/2019. MassGeneral Hospital for Children and Massachusetts General Hospital do not endorse any of the brands listed on this webpage. This webpage 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.