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Ambiguous genitalia
Definition:
A birth defect where the outer genitals do not have the typical appearance of either sex. (See also genetics) Alternative Names:
Genitals - ambiguous Text Continues Below
Considerations:
The genetic sex of a child is determined at conception. The mother's egg cell (ovum) contains an X chromosome, while the father's sperm cell contains either an X or a Y chromosome. These X and Y chromosomes determine the child's genetic sex. Normally, an infant inherits one pair of sex chromosomes -- one X from the mother and one X or one Y from the father. Thus, it is the father who "determines" the genetic sex of the child. A baby who inherits the X chromosome from the father is a genetic female (two X chromosomes). A baby who inherits the Y chromosome from the father is a genetic male (one X and one Y chromosome). The male and female reproductive organs and genitals both arise from the same tissue in the fetus. If the process that causes this fetal tissue to become "male" or "female" is disrupted, ambiguous genitalia can develop. This genitalia makes it difficult to classify the infant as male or female. The extent of the ambiguity varies. 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 developed the appearance of a normal female. Typically, ambiguous genitalia in genetic females (babies with two X chromosomes) has the following features: - An enlarged clitoris that has the appearance of a small penis.
- The urethral opening (where urine comes out) 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.
- Sometimes a lump of tissue is felt within the fused labia, further making it look like a scrotum with testicles.
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