I was born without a uterus and fallopian tubes. I do have ovaries (nonfunctional). I believe the tubes started to form, then stopped. I cannot conceive a child, of course. What is my condition called? Anything you can tell me would be appreciated.

ù Kelly

There are many conditions in which the upper vagina, uterus and tubes do not form. It is important that you see a reproductive endocrinologist for a careful evaluation to better understand your particular situation. I would first check the FSH level, which indicates whether there is functioning gonadal tissue. If the FSH is normal, I would assume that the condition is due to an isolated failure of organ formation. Women who lack a uterus but have with normal ovaries and a normal FSH level may wish to consider IVF with a surrogate mother. On the other hand, if the FSH is high, that indicates a problem with the gonads (testicles in men, ovaries in women).

We also need to find out which chromosomal instruction set you were given to start with. I would order chromosomal testing to determine whether your body got the right genetic message to form ovaries. If your chromosomal analysis reveals a 46XX pattern -- the normal pattern for females -- you likely had ovaries that for an unknown reason failed to develop. This is called gonadal dysgenesis and mullerian agenesis (developmental failure of the female internal genitalia).

Occasionally the genes get things backwards. Some women actually have a 46XY chromosomal pattern -- a genetic combination that would normally produce a male. The most common of these abnormalities is androgen insensitivity syndrome (AIS). Women with AIS have testicles inside their abdomens; like men's testicles, these organs make normal to high levels of male hormones. In normal male fetuses, these hormones block the development of the uterus and fallopian tubes and trigger the development of male external genitalia. But in some fetuses, due to a genetic error, the cells do not respond properly to one of these hormones. A uterus and fallopian tubes do not form, but development of the external genitalia proceeds along the female pathway -- producing a woman with AIS.

In other conditions, called disappearing testicle syndrome or 46XY gonadal dysgenesis, the testicles may function briefly -- long enough to suppress formation of the uterus and fallopian tubes -- but then disappear or fail to grow and produce the hormones necessary to trigger the formation of male genitals. Without that signal, the external genitals proceed to develop along the female path.

Women with these male genetic patterns typically do not know anything is unusual until they fail to start menstruating. However, if your chromosomal studies show a 46XY pattern, the gonads should be removed after puberty, as there is a risk that they will develop cancer over time.