Ambiguous Genitalia

Definition:  A congenital physical abnormality where the outer genitals do not have the typical appearance of either sex. (See also genetics) 

Considerations:  The genetic sex of a child is determined at conception. The egg cell (ovum) contains a chromosome called the X chromosome. Sperm cells contain either an X chromosome or a chromosome. These determine the child's genetic sex.  Thus, it is the father who "determines" the genetic sex of the child. An infant who inherits the X chromosome from the father is a genetic female (XX pattern) and one who inherits the Y chromosome is a genetic male (XY pattern). 

The reproductive organs and genitals associated with a "female" or a "male" arise from the same initial (fetal) tissue. If the process that causes this fetal tissue to become "male" or "female" is disrupted, ambiguous genitalia can develop.  Ambiguous genitalia are those in which it is difficult to classify the infant (by physical examination) as male or female. The extent of the ambiguity varies, and the infant can look very much like a "normal" infant of the opposite sex.

In very rare instances, the physical appearance may be fully developed as the opposite of the genetic sex (for example, a genetic male may have normal female appearance).  Typical ambiguous genitalia in genetic females include an enlarged clitoris that has the appearance of a small penis. The urethral opening can be anywhere along, above, or below the surface of the clitoris. The labia may be fused, resembling a scrotum. The infant may be thought to be a male with undescended testicles.  In a genetic male, findings of ambiguous genitalia include a small penis, less than 2 to 3 centimeters (0.8 to 1.2 inches) that may appear to be an enlarged clitoris (the clitoris of a newborn female is normally somewhat enlarged at birth). The urethral opening may be anywhere along, above, or below the penis; it can be placed as low as on the peritoneum, further making the infant appear to be a female. There may be a small scrotum with some degree of separation, resembling labia. Undescended testicles commonly accompany ambiguous genitalia.  Uncertain or mistaken sex is not a physical threat to life, but can create social upheaval for the child and the family. 

Common causes:

  • pseudohermaphroditism 
  • true hermaphrodism (very rare) 
  • mixed adrenal dysgenesis 
  • congenital adrenal hyperplasia (usually genetic female appears male) 
    chromosomal abnormalities including - Klinefelter's syndrome (XXY) or XXX syndrome (also called triple X or super female) 
  • maternal ingestion of certain medications (particularly androgenic steroids) 
  • lack of production of specific hormones, causing the embryo to develop with a female body type regardless of genetic sex 
  • lack of testosterone cellular receptors 

Note: There may be other causes of ambiguous genitalia. This list is not all inclusive, and the causes are not presented in order of likelihood. The causes of this symptom can include unlikely diseases and medications. Furthermore, the causes may vary based on the specific characteristics of the symptom such as location, quality, and associated complaints. 

Home care: Because of the potential social and psychological effects of this condition, the decision to raise the child as a male or female should be made early after diagnosis, preferably within the first few days of the infant's life although future research may change this way of thinking.

As with any procedure we perform, your child's safety and well-being our #1 priority.  As always, feel free to contact us with any question that you have.  We would be happy to answer it for you.