Ambiguous genitalia

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Definition

By Mayo Clinic staff

Ambiguous genitalia is a rare condition — usually obvious at or shortly after birth — in which an infant's external genitals don't appear to be clearly either male or female. In ambiguous genitalia, a baby's genitals may not be well formed, or the baby may have characteristics of both sexes. In a baby with ambiguous genitalia, the external sex organs may not match the internal sex organs.

Ambiguous genitalia can be very distressing for families. Your medical team will determine the cause of ambiguous genitalia and provide information and counseling that can help guide decisions about the baby's sex.

References
  1. Baskin LS. Abnormalities of sexual determination & differentiation. In: Tanagho EA, et al. Smith's General Urology. 17th ed. New York, N.Y.: McGraw-Hill; 2008. http://www.accessmedicine.com/content/aspx?aID=3131473. Accessed Jan. 4, 2010.
  2. Houk CP, et al. Evaluation of the infant with ambiguous genitalia. http://www.uptodate.com/home/index.html. Accessed Jan. 4, 2010.
  3. Houk CP, et al. Management of the infant with ambiguous genitalia. http://www.uptodate.com/home/index.html. Accessed Jan. 4, 2010.
  4. Cunningham FG, et al. Fetal growth and development. In: Cunningham FG, et al. Williams Obstetrics. 23rd ed. New York, N.Y.: Mc-Graw Hill; 2005. http://www.accessmedicine.com/content.aspx?aID=6037835. Accessed Jan. 4, 2010.
  5. Kajbafzadeh A-M, et al. Detubularized pedicled vaginal onlay flap urethroplasty: A new method for hypospadias repair of ambiguous genitalia. The Journal of Urology. 2008;180:2159.
  6. Hackam DJ, et al. Pediatric surgery. In: Brunicardi FC, et al. Schwartz's Principles of Surgery. 9th ed. New York, N.Y.: Mc-Graw Hill; 2010. http://www.accessmedicine.com/content.aspx?aID=5029784. Accessed Jan. 4, 2010.
  7. Diamond DA. Sexual differentiation: Normal and abnormal. In: Wein AJ, ed. Campbell-Walsh Urology. 9th ed. Philadelphia, Pa.: Saunders Elsevier; 2007. http://www.mdconsult.com/das/book/body/177172771-6/935283878. Accessed Jan. 4, 2010.
  8. Crouch NS, et al. Sexual function and genital sensitivity following feminizing genitoplasty for congenital adrenal hyperplasia. The Journal of Urology. 2008;179:634.

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Jan. 29, 2010

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