Ambiguous genitalia


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Symptoms

By Mayo Clinic staff

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Illustration showing hypospadias 
Hypospadias

Your medical team will likely be the first to recognize ambiguous genitalia soon after your baby is born.

Babies who are genetically female (with two X chromosomes) may have:

  • An enlarged clitoris, which may resemble a small penis
  • Closed 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
References
  1. Ambiguous genitalia. American Urological Association Foundation. http://www.urologyhealth.org/urology/index.cfm?article=90. Accessed Feb. 14, 2012.
  2. Tanagho EA, et al. Smith's General Urology. 17th ed. New York, N.Y.: The McGraw-Hill Companies; 2008. http://www.accessmedicine.com/resourceTOC.aspx?resourceID=21. Accessed Feb. 16, 2012.
  3. Murphy C, et al. Ambiguous genitalia in the newborn: An overview and teaching tool. Journal of Pediatric and Adolescent Gynecology. 2011;24:236.
  4. Barbaro M, et al. Disorders of sex development. Seminars in Fetal and Neonatal Medicine. 2011;16:119.
DS00668 March 16, 2012

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