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Symptoms
By Mayo Clinic staff
A newborn's genitals are quite small, and what looks "normal" spans a wide range. Your medical team will likely be the first to recognize the signs of ambiguous genitalia soon after your baby is born.
Ambiguous genitals may have various characteristics. Babies who are genetically female (with two X chromosomes) may have:
- An enlarged clitoris, which may resemble a small penis
- An opening where urine comes out (urethral opening) that's anywhere along, above or below the clitoris
- Closing together of the labia, or labia that include folds and resemble a scrotum
- Lumps that feel like testes in the fused labia
Babies who are genetically male (with one X and one Y chromosome) may have:
- A condition in which the narrow tube that carries urine and semen (urethra) doesn't fully extend to the tip of the penis (hypospadias)
- An abnormally small penis with the urethral opening closer to the scrotum
- The absence of one or both testicles in what appears to be the scrotum
- 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.
- Houk CP, et al. Evaluation of the infant with ambiguous genitalia. http://www.uptodate.com/home/index.html. Accessed Jan. 4, 2010.
- Houk CP, et al. Management of the infant with ambiguous genitalia. http://www.uptodate.com/home/index.html. Accessed Jan. 4, 2010.
- 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.
- 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.
- 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.
- 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.
- Crouch NS, et al. Sexual function and genital sensitivity following feminizing genitoplasty for congenital adrenal hyperplasia. The Journal of Urology. 2008;179:634.
