Ambiguous Genitalia | Diagnosis & Treatment

How does a clinician determine the gender of an infant with ambiguous genitalia?

Our physicians, along with you, will consider the following:

  • a pelvic ultrasound (to check for the presence of female reproductive organs)
  • a genitourethrogram to look at the urethra and vagina if present
  • a chromosomal analysis (to help determine genetic sex: 46, XX or 46, XY)
  • fertility potential of a female pseudohermaphrodite
  • size and potential for growth of a penis present in a male pseudohermaphrodite
  • ability of an internal reproductive organ to produce appropriate sex hormones for the gender
  • risk of future health conditions, such as cancer, that may develop in the original reproductive organs later in life
  • the actions of male or female hormones on the fetal brain
  • your opinion or preference

How is ambiguous genitalia treated?

Treatment for ambiguous genitalia depends on the underlying disorder.

  • Assigning the gender is important for treatment purposes and for the emotion well being of the child.
  • Usually, treatment involves performing corrective surgery to remove or create the appropriate sexual organs.
  • Hormone replacement therapy (HRT) could also be a part of the treatment process.

Your care team will determine the appropriate sex assignment. This determination will inform the course of treatment. You, as parents, will be involved every step of the way.

In the past, disorders of sexual differentiation like ambiguous genitalia were seen as medical emergencies that needed to be addressed immediately. Parents were not always involved in the decision-making process, which varied from center to center. In recent years, however, adult patients have formed national advocacy groups that have changed the thinking about how to manage ambiguous genitalia. At the GeMS, families are intimately involved in the life-changing decisions.

What is the long-term outlook for a child with ambiguous genitalia?

Some children born with ambiguous genitalia have normal internal sexual organs that allow them to live a fertile reproductive life. Others may be infertile or experience difficulty conceiving a child. Sometimes there is an increased risk of tumors in the gonads later in life.