Colorectal Quizzes: Episode 39 – Mullerian Anomalies in Patients with ARM

Welcome to our next episode of Colorectal Quiz. I'm Lisa Bokova, Colorectal Research Fellow at Children's National, Washington DC. Today we're going to discuss a case of a Mullerian anomaly in a patient with Chloaiken, and we will start off with Doctor Levitt from Children's National. It's another day. It's another topic. Welcome. The colorectal quiz. I get calls and I know Mark, you do as well about missed gynecologic issues in simple interectal malformation patients. That's our second host, Doctor Frischer, director of the Colorectal Center at Cincinnati Children's Hospital. I'm proud to say that in both Jason and my places here, gynecology is part of the process. I I want to welcome Doctor Leslie Breach, my good friend for many years, who really is, in my view, the first congenital gynecologist. Thank you and Doctor Frischer for inviting your favorite gynecologist to join you. And then I'm very blessed to be working with Veronica Gomez-Lobo, who is her counterpart on this site. Of the country in Washington DC who runs the GOAN program here. We're really blessed to have you all include us in this multidisciplinary care because in other countries, we just had a visiting professor from Korea. She just sees the kids later in life when they have a problem in adolescence or when they're adults and have questions about pregnancy and sexual activity. So today we're going to discuss a case of a 12-year-old female with a history of cloaca, 2 centimeter common channel with neurogenic bladder, UTI, and hydronephrosis. She is also status post tethered cord release, ASD and VSD repair. She underwent a PSAVUP with. Total urogenital mobilization, creation of a malone with assessment of Mullerian structures, and colostomy closure. This story begins today when she presents for her follow-up at puberty. Uh, she has a twin sister, and her twin sister is showing signs of advancing puberty. The patient we're talking about has not yet achieved her period. At what stage of the patient's care are you making the assessment of their anatomy? During the original EUA to assess where the fistula is, we perform a vaginoscopy. The vagina does not have a sphincter, so you need to squeeze the labia around the scope so that the vagina does fill up with water. And what are you looking for? We look to see where the cervix is and if there's one cervix or two cervix. I think before you even start to do that, You really should grab the labia and pull them out so that the vagina opens up just to assure that there isn't a septum that goes all the way out. Because sometimes you can put the scope into one vagina and never realize there's a second vagina there. And then, if you were able to see a cervix in the midline, usually we feel like there might be just one uterine structure. But again, you can have a second vagina that you might be missing and that's why it's so important to look at the entrance of the vagina and assess the perineum very well. What if you see a septum higher up and two cervixes? Then you know what the anatomy is. There's 2 uteruses with 2 vaginas and 2 cervixes. But what if you see 1 cervix and 1 vagina? And you don't really know what the anatomy is. We recently had a patient that we did a vaginoscopy and the ultrasound showed a possibility of two vaginas. We did not find two vaginas. Then we did the PSA from below and we did not find two vaginas. And then she came for her postoperative evaluation and lo and behold, we found the other vagina. And so, anytime the baby is under anesthesia, she should be evaluated. So let us come back to the case we're discussing today. This young lady had a vaginoscopy during initial repair. There was the visualization of a single cervix. And how do you assess the anatomy after the initial repair? When they're in the OR doing the colostomy closure for a cloaca, we will do a vaginoscopy to check the repair, but also look in the abdomen to make an assessment of those reproductive structures, particularly in cloaca. The majority of patients will have duplication, right? So just because you see the one, don't be satisfied. Be thinking, is there another and how can I best assess for that? Is that at this moment, or will there be these opportunities that we're gonna highlight in our conversation as we continue? You know what that reminded me of laparotomy for a gunshot wound. You need to see an entry and an exit. You only see one, you got to be confused. Where's the other one? At the time of the assessment of the cloaca, gynecology was there, was part of the endoscopy, was looking into their orifice that they worry about. So the endoscopy during the, let's go, the newborn colostomy, if they have a hydrocopos, the cloacco repair. Endoscopy for that to prep for the repair. The repair itself, both the perineal view and an abdominal view, if you get that far in the cloacal repair, the colostomy closure, and then if a child needs any other intervention like a malone, which is done laparoscopically or theirs. Costomy needs to be closed or their ureters need to be reimplanted. The third collaborating partner here for these cloacas is obviously urology, so they may need to go to the OR for something. And then if all of that's done and you have a pretty good idea, they turn age 12, and now you got to make sure once again. That things are OK and intervene if necessary. It is known that cloaca patients are at risk of menstrual obstruction in the future. How can we assess this risk in a particular patient? We'll also try to attempt test menstruation where we'll do what we call saline perturbation or to put some salt water through the system to do the first period to assess that things flow well. We would just put dye at the entrance of the cervix and see if it would come out on the tubes. This procedure had been stumbled on over the years to ensure that there wasn't a risk in the future of an obstructive phenomenon. Perturbation can basically be performed either in a retrograde fashion or in an antigrade one. Could you please tell us more about it? And we as GA had said that something called chromo perturbation to be able to assess the patency of the fallopian tubes using what we would call sort of a retrograde perturbation. So at the cervical area to put dye through the system and to be able to see that all is open. So a modification of that when in the abdomen uses an opportunity to integrate perturbation by using a small feeding tube in the distal aspect of the fallopian tube. And then in an anti-grade fashion instill the saline to ensure that that side of the Mullerian system was completely open. Are there any risks associated with this procedure? A gentle perturbation carries relatively low risk. The other thing that can be done is a hysteroscopy. So if you have a small enough cystoscopy equipment, sometimes you can go into the cervix and look at the uterine cavity, and that gives you an idea because you would see whether there's one or two osteia. And should we be looking at gynecologic anatomy in other patients with anorectal malformations, like those with vestibular or perineal fistula? Yes, there is an increase in the association of Mullerian anomalies in all patients with anorectal malformations. The closer the vagina and rectum are together, the higher the chances that there is an anomaly. So cloaca is the highest association of Mullerian anomalies, followed then by rectal vestibular and then the least being perineal fistula, which is still Slightly above the rest of the population in this particular case, the patient had a cloacal repair, a PSA or VUP, all from below, so there was no investigation of the abdomen because there was no opportunity to do so. But I think then you alluded to the fact that at the time of the colostomy closure, you had an opportunity to look inside the. Abdomen and luckily, you were working with a surgeon that said, hey, gynecology buddy, we're looking into the abdomen. Would you like to join me? We should be very careful to not have a Mullerian black box because you don't want a 12 year old that's in trouble. How do we avoid that black box from a workup standpoint? This is a case that was managed by an interdisciplinary team that had a gynecologist assessing these uterine bodies, but you will see along the way, it still wasn't 100% clear until the blossoming of puberty. So it can take longitudinal assessments over time and the blessing of the pixie. Dust of puberty to make it clear to us. The one thing you did do here is you knew of the possibility, checked, and then you intervened. Jason, you remember Fred Reichmann used to say it's much easier to stay out of trouble than to get out of trouble. So, what opportunities have we got to open the black box of Mullerian anomalies? You might get a clue prenatally. Sometimes you see uh hemivaginas even on a prenatal ultrasound or MRI. We've had situations where the ultrasound said there were 2, and we can't find 2, and then we said we better keep looking cause there should be 2. I want to make a point too about what's happening hormonally. So when babies are first born, they're under the influence of Mom's hormones, and then they go through a mini puberty. And that's a great time to look at the Mullerian structures because they get really, really small after that, once the hormones are gone. The reason that this declares itself in puberty is because the hormones kick in again. But again, an ultrasound after birth is very valuable because the Mullerian structures are more visible. You could get some really helpful imaging during the neonatal period because of the hormonal exposure from the mother's hormones. And then you lose that opportunity really, basically till puberty, where imaging is a little tougher and maybe MRI is a little more helpful, but then they have to get sedated. We all wanna be cost-saving, but we could get the ultrasound at a couple of days or a week of life, but we're really not gonna use that information now, so we don't need to get it, but we might have lost an opportunity there. So, do we ever need a MRI in a 3 or 4 year old to make a Mullerian assessment. I can't tell you how many girls I've had who've been told they don't have a uterus when they're 7 years old, who then at 13 get a period. So, do not diagnose an absent uterus when somebody's 7 years old. Ultrasound is extremely good. and MRI is extremely bad because the structures. They're very tiny. All you really want to know is there anything dilated? And at that age, there's nothing really dilated except to the point that you just made is in the very early stage when they're still under mom's hormonal effects. I think there's still a lot of MRI's being done that aren't necessary. Of course, if they have symptoms and they're 12 years old, then MRI is an awesome modality to see what's dilated. This little girl had a malone created at age 4, and so at age 4, you can imagine there is no hormone stimulation. Let us hear what was happening in the OR. If you are listening from the Stay Current app, you can pull up the photos that are gonna be described. So when we took a look, look at the first image in the Stay Current app. We saw a beautiful image on the right that shows the right-sided Mullerian structure, you see the fallopian tube and right ovary. But you do see some adhesions, particularly on the left, likely from the previous colostomy, but you see, there's a mallerian structure on the left. Doesn't seem to progress as far down in the pelvis, but definitely see the tube and ovary there under some adhesions. So when I was there, we couldn't really make a good assessment and we tried again to do our saline perturbation at that time. But I think the question becomes, are we traumatizing the distal fallopian tube? Under the prepubertal state. And so we said, great, we have more information. We know there's only one cervix, but we see there's these two bodies and are they communicating or not. Then she, she returns to us, right? 12 to 13. Her sister is well into puberty and she was getting a Botox procedure. We thought, great, another chance to take a look. And Veronica mentioned earlier the role of something called hysteroscopy, taking a scope and going into the uterus which most Pediatric surgeons, I would not recommend doing that. But in this situation, being a gynecologist, the patient is puberally stimulated, we put a small scope into the uterus itself and did what's called a hysteroscopy because we wanted to find out was there any connection that we could learn between those two Mullerian structures. Have a look at the second picture illustrating hysteroscopy findings. We see the cervix which is deviated. Slightly to the patient's right at the top of the vagina. And when we go through the cervix and into the uterine body, we could only see one ostear opening into the fallopian tube. So that small intervention at the time of her Botox procedure told us right there that those two uterine bodies are not communicating into that one cervix. There is one tube opening, that means there is a unicornuate uterus on one side. So that other side is not communicating. And if there is endometrium within that non-communicating horn or part, that's a problem. So that's why then we said, hey, let's get the post pubertal MRI. Look at the MRI pictures. You can see in the pelvis, the right-sided Mullerian structure, which is really a right unicornate uterus, which is gorgeous. It has endometrium, the most beautiful looking cervix I've seen in a while on that right side. So we know that side is the one that's communicating to the vagina. But over on the left, there is a non-communicating muscle structure with the dark color and the lighting up white endometrium, which means That's a brewing period that has no way out. Look at the axo images. You can see the same thing on these coronal images again, showing the right sided unicornal structure, and you can see an arrow with the image pointing to sort of less well-formed, no cervix scene structure on the left that is the danger structure. With that information, then, we spoke to family about the idea that there is a unicornate uterus, one side open, patent will allow All the menstrual flow to come when it would happen, but that there was this left-sided, non-communicating Mullerian remnant, this Mullerian horn that we call it, the uterine horn or what I call a shack, because we don't want to keep a shack around. We want a house with a nice front door leading down the sidewalk of the vagina and out of the curve. We need that for patent flow. This shack needed to be removed. Interestingly enough, remember this is a young lady who has a wonderfully functional malone through her umbilicus, and that is typically where a lot of times we would do the approach, but this is the left upper quadrant insertion of the skull, and she had a laparoscopic resection of that left valerian remnant. Have a look at the 4th photo in the attachments. We kept this beautiful right-sided unicornum uterus with Nay's mature, beautiful fallopian tube. With fimbria and a beautiful ovary. And then we look on the left, look at the next intraoperative photo and we see this non-communicating left-sided uterine remnant. The tube is a little bit also adhesive, but you see the ovary above it and there's another view that you can see. It's a little more prominent. You see that it's kind of protruding because it has that endometrium that's not gonna be able to get out and go anywhere. So we're gonna wanna resect that but preserve that beautiful ovary. See over there on the left. The blood supply, we don't wanna compromise that. But we also were able to keep this beautiful, functional appendiceal alone, which we can see in the last photo. And you prevented her from having severe pain because these uterine horns, it's so much worse than the other obstructive anomalies. They get severe pain and because these can be very small, sometimes people have a hard time identifying them. When you do take out one of those aretic systems and you preserve the ovary, what do you do to the tube? So if somebody doesn't need their tube and you're there, they can just be taken out. Not only are you preventing ectopic pregnancies, but you're preventing ovarian cancer. So more recently, it's come out that what we used to think was ovarian cancer, serous cystadenocarcinoma, is actually coming from the tube. How you remove a fallopian tube and save an ovary, because that is no picnic, and these structures are relatively small. So, you know, the main blood supply are the ovarian vessels. So you wanna be protecting those at all costs, but there are definitely many vessels that you find in the basosalpinx, so we're gonna wanna be close to the fallopian tube itself and you wanna progress down to the uterine body, stay close to the fallopian tube, but the ovarian vessels are the highest priority. If the tube is here, the ovary is gonna be underneath it and the blood supply is gonna be coming from the side. And so if you're above Of the ovary close to the tube on the mesosalphinx, then you can remove the tube fairly easily. Oftentimes in patients with renal anomalies on the side of the Mullerian anomaly, we use stents that can be placed to help protect also the ureter which can be in that admixture of near the ovarian vessels then going down into the pelvis. And so it's important also to consider the blood supply to ovary as well as the ureter. This patient happened to have Two normal kidneys, but oftentimes we'll find these remnants and these anomalies on the side of the pelvic kidney or absent kidney. As we've progressed to doing some of the work laparoscopically, reproductive endocrinology colleagues remind us to be very gentle and careful with the fallopian tubes, not to want to cause any trauma that could be subsequently associated with hydrosalpinxx or scarring of the tube. And what is the reproductive potential of this patient? With this uterine horn, they should have normal reproductive potential. She's got this beautiful tube that doesn't seem to be damaged by her previous surgery, but there is a higher rate of premature deliveries. And here are some take-home points. We emphasize the importance of suspecting Mullerian anomalies in patients with anal rectal malformation. An early delineation of that anatomy is extremely important, particularly prior to the onset of puberty, so that we don't run into those emergent and more catastrophic situations where we have an obstruction. But as you progress along the journey of caring for your patient with an ARM, there are some pit stops that you can make along the way in those opportunities. The original repair, colostomy creation, colostomy closure, other surgeries like creation of them alone. But let's say that those other opportunities aren't utilized, then there are imaging techniques, and we have emphasized that maybe a postpubertal MRI might have a role, but really those prepubertal. MRI's are not as helpful, and if there is imaging, it's early on under mom's hormonal stimulation and seems like we favored the ultrasound as a team. Some of these cases are really a longitudinal progression of deciphering that anatomy and having sort of red flag patients where you suspect that there could be something more and all you see is one cervix. If you keep an eye out for this, you're preventing this child a lot of pain. The different abnormalities of the Mullerian system are associated with different issues with pregnancy, and the families will want to know that too. Our nurse Debbie did a project that talked a lot about how the awareness for parents very early on in their care of their child with an anorectal malformation was very reassuring to understand their reproductive anatomy, but they really signed on as a partner to say at puberty is the time we really have to know. Any patient with an anorectal malformation has to go through a process we have and probably many others have similar, where we will not take that patient to the operating room or schedule an appointment in clinic without our gynecology and neurology, seeing if they want that opportunity to either be in the operating room or have a clinic visit. That helps to avoid an extra anesthetic for these patients. It is important to remember. That Mullerian anomalies are associated not only with cloeas. 10% of vestibular fissures have an absent vagina. Well, you may see more complicated situations. This hasn't been evaluated perfectly well with a huge sample size, but the numbers that I use is 5% of vestibulars have a septum and 1%, which might be high, have distal vaginal atresia. And from before perineal, it's much, much more uncommon. you can have a septum in a perineal and you can have distal vaginal atresia as well, but you will not be complete as a pediatric surgeon without a gynecologist you complete me. Jason, thank you for, uh, suggesting this phenomenon. Topic. Thank you, Leslie Breach from Cincinnati Children's and Veronica Gomez Lobo from Children's National Hospital, our two partners. Awesome. Thank you so much. Thank you, everyone. Thank you for joining us this week. This is Lisa Bokova from Children's National. We hope you enjoyed it. Tune in with us next time.