Your medical team will likely be the first to recognize ambiguous genitalia soon after your baby is born. Occasionally, ambiguous genitalia is diagnosed before birth (prenatally). Characteristics can vary in severity, depending on when during genital development the problem occurred and the cause of the disorder.
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:
Mar. 06, 2015
- 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
- Undescended testicles and an empty scrotum that has the appearance of a labia with or without a micropenis
- Ambiguous (uncertain) genitalia. Urology Care Foundation. http://www.urologyhealth.org/urology/index.cfm?article=90. Accessed Feb. 5, 2015.
- Houk CP, et al. Management of the infant with ambiguous genitalia. www.uptodate.com/home. Accessed Feb. 5, 2015.
- Arboleda VA, et al. DSDs: Genetics, underlying pathologies and psychosexual differentiation. Nature Reviews Endocrinology. 2014;10:603.
- Romao RLP, et al. Update on the management of disorders of sex development. Pediatric Clinics of North America. 2012;59:853.
- Rothkopf AC, et al. Understanding disorders of sexual development. Journal of Pediatric Nursing. 2014;29:e23.
- Wick MJ (expert opinion). Mayo Clinic, Rochester, Minn. Feb. 12, 2015.
- Hoecker JL (expert opinion). Mayo Clinic, Rochester, Minn. Feb. 25, 2015.
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