Thursday, January 24, 2013

Treatment of Vaginal Agenesis - Part 1

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: 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 ( 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.