Most of the patients I see have fertility problems, usually infertility or recurrent miscarriages, but I have always been interested in the treatment of birth defects of the female reproductive tract, even if they are unrelated to fertility. One such problem is vaginal agenesis.
About 1 of every 5000 women are born without a vagina. This
syndrome is sometimes called MRKH (Mayer-Rokitansky-Kuster-Hauser Syndrome,
named after some of the people who first described the condition). Women with
vaginal agenesis have normal ovaries (and fallopian tubes), but in most cases
the uterus is very small or absent. They go through puberty like any other
women, but of course they never menstruate. Most of the time, the diagnosis is
first considered around age 16. If you encounter a girl who has not yet menstruated two years after having breast development, this is one diagnosis to consider.
The cause of vaginal agenesis is not known, but there is
probably some genetic factor involved, as women with this disorder sometimes
have a family history of similar problems. I published a paper years ago about
identical twins, one with vaginal agenesis, and the other with a normal vagina
but virtual absence of the lower leg bones (go here to read the abstract of
that paper: http://www.ncbi.nlm.nih.gov/pubmed/12969715).
That case was a dramatic example of the relationship between the development of
the genital tract and the skeleton. Women with vaginal agenesis may also renal
(kidney) and hearing problems.
Diagnosis of vaginal agenesis
Usually, vaginal agenesis is diagnosed by a history and physical exam. I also do a pelvic ultrasound to look for other pelvic abnormalities, and I check to see that both kidneys are present. If there is some question about the diagnosis, a pelvic MRI, a chromosome test, and hormone tests might also be obtained. There are some other conditions that can mimic vaginal
agenesis (like androgen insensitivity, a transverse vaginal septum, and an
imperforate hymen), so if this disorder is being considered,
it’s important to find a doctor who is experienced in making the right
diagnosis rather than just someone who can help the patient make a vagina. I
have to admit that many reproductive endocrinologists are so interested in doing
fertility treatments like in vitro fertilization that they don’t have much interest in (or experience
with) this problem, so if you live somewhere far from me, you may have to search
around to find someone with expertise in dealing with vaginal agenesis. Often
that will be at an academic medical center, but that isn’t true where I live.
Here is what vaginal agenesis looks like (the catheter is in the urethra):
Management of vaginal agenesis
So, what do you do if your doctor has said you have vaginal
agenesis? Of course, you need to learn all you can about the condition. A good
place to start is a Web site put up by Boston Children’s Hospital (http://www.youngwomenshealth.org/mrkh_teen.html).
I'm sure other sources of information exist, but that is the best one I have found. Then, if you live not too far from Birmingham,
Alabama, you should come talk to
me. We’ll do some tests to confirm the diagnosis (and look for related issues
that might need treatment, like a functioning uterine remnant) and talk about
how to fix your problem.
Of course, you don’t have to do anything at all about
vaginal agenesis. I saw a young couple many years ago that presented with
infertility - they didn’t realize the wife was born without a vagina! It was
clear from her exam they were engaging in anal intercourse (and they refused any
treatment.) I have also seen one couple who had managed to dilate the woman’s
urethra by repeated attempts at intercourse. I can’t say that I recommend
either of these options. Basically, there are two ways to treat vaginal
agenesis: use of vaginal dilators, or surgical treatment.
Vaginal dilators are used to slowly create an opening where
the vagina should be. This is done by the woman pressing a dilator into the
vaginal orifice 15-20 minutes at a session twice a day. It usually takes 3 to 6
months to get a functional vagina. The advantage of this technique is that
surgery isn’t needed; the disadvantage is that it takes a long time, and it
doesn’t always work. There have also been some reported cases of vaginal
prolapse (meaning the vagina turns inside out and falls outside the body) among
women who have used dilators to create a vagina. I think it is always best to
try vaginal dilators first, since even if it doesn’t work, it can sometimes make
the surgery a bit easier. If you read through the Web site I listed above, you
may surmise that whoever wrote the material is a strong proponent of vaginal
dilation, even if it takes over a year to get results. I am less enthusiastic,
and if someone comes and says “no dilators, let’s do the surgery”, I’m OK with
that; maybe it’s because I’ve had good results with surgical treatment, and
because I sympathize with women who don’t want to work for over a year to get a
functional vagina. (The twin whose case I published was having intercourse with
her newlywed husband six weeks after surgery.)
There are several surgical options to make a vagina: using a
split thickness skin graft (the McIndoe procedure), using a loop of small or
large intestine, or using a surgically implanted device that provides a
constant tension on the vaginal orifice (the Vecchetti procedure). You can use
a full-thickness skin graft or a flap of tissue freed up from the upper thigh,
but I think this is seldom done, in part because you get hair follicles growing
in the vagina. I think that using a loop of bowel has fallen out of favor, too,
since it is major surgery that requires cutting a loop of intestine. Also, women
who have this procedure are said to have a chronic vaginal discharge from the
intestinal segment that requires a sanitary pad to control. I have only seen
one patient who had a vagina created from a loop of bowel, and I was
unimpressed with the result. The vagina was very short (less than one inch
deep); there didn’t seem to be a bothersome discharge, though, and the couple
didn’t complain about the outcome, so I guess it was OK for them.
The Vecchetti procedure is a fairly recent development from Europe. It requires laparoscopy to insert sutures that
connect a special tensioning insturment mounted on the abdomen to a plastic olive-shaped device installed at the vaginal orifice.The patient typically stays in hospital for 7 to 10 days and then undergoes another surgical procedure to remove the device. This technique
is sort of a ramped-up dilator procedure. The outcomes are supposed to be good,
but since the procedure is still fairly new, we don’t know as much about the
long-term results as some of the other options, and it does involve some surgery. A few years ago I observed several Vecchetti procedures, but in the end I didn’t think it
offered an advantage over what I currently do, which is the McIndoe procedure.
Next post: How to make a vagina using the McIndoe procedure.
