What is Testicular Feminization?
Testicular feminization is a genetic disorder present from the moment that a child is conceived, however it may go completely unnoticed until the child reaches puberty. Essentially, the child will be genetically male, having both X and Y chromosomes. However, there will be a defect on the X chromosome in group Xq11-q12, in a gene specifically called Androgen Receptor. The result is that the fetus's body is completely unresponsive to the androgens, or male hormones, that the body produces. This causes a complete lack of outward sexual characteristics, either male or female. The child, when born, is always mistaken for a girl as it will have a small pouch opening that is identical to a vagina. However, this opening is closed at the back, and the child possesses no uterus or fallopian tubes. It has no penis and the testes are often located in the base of the abdomen. As a result, such people with this disorder are always sterile. This disorder is only detected when the child fails to experience a menstrual cycle and mammary growth, though all other physical features will appear feminine such as the hair, physical size and tone of voice.
How is Testicular Feminzation Inherited?
This disorder is passed on through a defective X chromosome donated by the mother. The mother does not experience this disorder as she possesses two X chromosomes; the functional one takes over and does the job of both in causing the growth and development of appropriate sexual characteristics. When the mother has a male child, there is a 50 percent chance that the child will receive the defective chromosome and be subject to this disorder. When the mother has a female child, there is also a 50 percent chance that the child will receive the defective chromosome. However, as the daughter will have another X chromosome donated by the father, she will not display signs of this disorder whether she carries the defective gene or not. Those daughters who do indeed have the defective gene are then able to pass it on to their own children, though it will only ever manifest itself in males and be carried by females. Males with this disorder are inherently sterile, thus being incapable of passing the disorder on to further generations.
Can Testicular Feminization Be Treated?
There is no real effective form of treatment; each individual case must be assessed on its own merit due to the psychological implications of the situation. Remember that the child was likely raised as a girl and brought up to act like a girl. Sometimes people with testicular feminization identify with being female, meaning they inherently think of themselves as women. However, others always think of themselves as male, despite the fact that they are seen and treated by others as female. As the body does not respond to androgen, hormone therapy is useless, and growth of sexual characteristics cannot be stimulated artificially. The only form of treatment is largely cosmetic, sexual reassignment. Those who feel they better identify with being female will have sex-change surgery to look more like a woman. Typically this involves breast implants and the sculpting of a more normal looking vagina, though this is completely ornamental and serves no purpose as it will not contain the nerves that allow someone to experience sexual pleasure. Those who have sex-change surgery to appear to be male have a more difficult time of it. They will not be able to grow facial or body hair ever, and will have to consciously work to deepen their voices. It also takes a series of surgeries for doctors to grow and sculpt tissue into the appearance of a penis and scrotum.
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