Testing & Diagnosis for Ambiguous Genitalia in Children

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Contact the Department of Urology

  • 1-617-355-7796

How does physician 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
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