Disorders of Sexual Differentiation | Testing and Diagnosis

How are disorders of sexual differentiation diagnosed?

The 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. 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 you understand the results of the tests. If the child is old enough to be aware of the medical attention he or she is receiving, it’s important to explain what is happening in understandable terms.