Ambiguous genitalia

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Risk factors

By Mayo Clinic staff

Family history may play a role in the development of ambiguous genitalia, because many disorders of sex development result from genetic abnormalities that can be inherited. Possible risk factors for ambiguous genitalia include a family history of:

  • Unexplained deaths in early infancy
  • Infertility, absent menstrual periods or excess facial hair in females
  • Genital abnormalities
  • Abnormal physical development during puberty
  • Congenital adrenal hyperplasia

If your family has a history of these risk factors, consider seeking medical advice before trying to conceive. You may also benefit from genetic counseling.

Certain drugs with hormonal effects, including oral contraceptives, testosterone, anti-epileptic drugs and steroids, can also increase the risk of ambiguous genitalia. If the mother uses these substances during pregnancy, the developing fetus may be exposed to abnormal levels of hormones.

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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