Testing & Diagnosis for Disorders of Sexual Differentiation in Children

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Contact the Department of Urology

  • 1-617-355-7796

At Boston Children's Hospital, we know that first step in treating a child with disorders of sexual differentiation (DSDs) is forming an accurate diagnosis. A child can be diagnosed with a DSD as early as the newborn period and as late as adulthood.

How are DSDs diagnosed?

When children with DSDs also have ambiguous genitalia, the disorder can be diagnosed at birth.  If doctors suspect a DSD on the initial newborn exam, pediatric specialists in urology and endocrinology will examine your baby right away.

These tests may include:

  • Pelvic ultrasounds to look for female reproductive structures, such as a cervix, fallopian tubes and a uterus.
  • Blood tests to determine the level of sex hormones in the blood.
  • Gonadal biopsy to assist in gender assignment
  • Karyotyping, a type of analysis that allows doctors to determine the genetic sex of the baby.
  • Genitogram, a type of test that allows doctors to visualize the outline of the reproductive structures.

What happens after a diagnosis has been made?

After a possible DSD is identified, your child’s doctor will explain any medical concerns and make sure that you understand the results of the tests. If the child is old enough to be aware of the medical attention he is receiving, it’s important to explain what is happening in terms he can understand. 

We are grateful to have been ranked #1 on U.S. News & World Report's list of the best children's hospitals in the nation for the third year in a row, an honor we could not have achieved without the patients and families who inspire us to do our very best for them. Thanks to you, Boston Children's is a place where we can write the greatest children's stories ever told.”
- Sandra L. Fenwick, President and CEO

Boston Children's Hospital
300 Longwood Avenue, Boston, MA 02115
For Patients: 617-355-6000
For Referring Providers: 844-BCH-PEDS | 844-224-7337