How are disorders of sex differentiation (DSD) diagnosed?

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How are disorders of sex differentiation (DSD) diagnosed?

Some DSDs are discovered in the infant at birth because of noticeable signs, such as undescended testicles or an abnormal or unclear genital. When that happens, the doctor may order a few tests to confirm the diagnosis. The tests may also help the doctor to determine if there are any other medical problems that may need to be treated immediately.

Tests may include the following:

  • Medical history of the family and of the mother’s pregnancy
  • Physical examination of the child’s body, including genitals and buttocks
  • X- and Y-probe test to determine sex based on chromosomes
  • Ultrasound imaging
  • Hormone level tests and hormone stimulation test
  • Urine test
  • Exploratory surgery (done very rarely)

In other cases, DSDs may not be noticed early because there may be no obvious signs. Parents may start to have concerns only when they do not notice any puberty changes in an older child. Some children may mature into adulthood with a DSD that neither doctors nor parents noticed.

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