What Tests are Used to Diagnose DSDs?

Many times it's clear to see when there’s a gender problem. In other cases, it's not so simple. Most children are diagnosed at birth. Sometimes a DSD is not found until the teen years.

To make a proper diagnosis, and define a child’s gender, there are tests. These include:

  • A physical exam of outer sex organs
  • Blood tests to show your child's chromosomes and hormone levels
  • Ultrasound or MRI tests to see the internal organs
  • A genitogram to view inner sex organs. This includes X-rays and catheterization of the openings between the genitals and anus. This will show the urethra and the size of a vagina, if present. This test is helpful for planning surgery.
    • Dye may be used
  • A biopsy, to test the gonad tissue under a microscope
  • In rare cases, gene probe studies may help
    • For example, studies of the chromosomes with karyotyping will help define a 44XY DSD

Often, very high or low hormone levels are found in the blood. This tells your doctor the cause of the DSD. Once recognized, hormone levels can often be corrected.

A clear diagnosis will help define sexual function and fertility. Also, it will help parents know what to expect at puberty. All of this helps when defining the baby’s gender and finding treatment.