PAG over Pastries
A pediatric and adolescent gynecology review podcast. Started by a fellow for residents, fellows, and others to learn more about PAG topics.
PAG over Pastries
14 - Urogenital Anomalies
Venture into the intricate world of complex genitourinary anomalies with pediatric and adolescent gynecologists Drs. Susan Kaufman and Megan Sumida. Their discussion unravels the challenges and approaches to conditions that fundamentally alter the anatomical landscape for young patients.
Reference
NASPAG Essentials of Pediatric and Adolescent Gynecology: Chapter 25
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What is PAG?
Pediatric and Adolescent Gynecology is a subspecialty of OBGYN (2 year fellowship) focusing on reproductive healthcare for children and young adults. It fills the overlap between general gynecologists and pediatricians. It is a multi-disciplinary field involving work with pediatric endocrinology, dermatology, hematology, surgery, ect. Go to NASPAG.org for more PAG educational resources.
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PAG WebEd cases are a great way to review our podcast content.
This is a 15-year-old patient with a history of anorectal malformation repair and she presents with an inability to insert a tampon. She says that puberty progressed normally and menarche was at 12 years old. She has regular periods with no other issues, and the question is how should you approach your workup, hi?
Speaker 2:everyone. This is the PAG Over Pastries podcast, a 20 to 30 minute podcast about very important topics in pediatric and adolescent gynecology. I'm Susan Kaufman and I'm a pediatric and adolescent gynecologist at Virtua Health in South Jersey.
Speaker 1:I'm Megan Sumida. I'm currently, at the time of this recording, finishing up my fellowship in pediatric and adolescent gynecology at Baylor College of Medicine and Texas Children's Hospital. In the fall, I'm excited to be joining the Stanford PAG team.
Speaker 2:That's great, so exciting. I look forward to seeing what you do there, and today we're going to be talking about complex genital urinary anomalies. The material comes from our Essentials in Pediatric and Adolescent Gynecology, which is a PAG book released by NASBAG, and it's chapter 25, complex Genital Urinary Anomalies, and this was written by Kate McCracken and Shruti Srinivas. Megan, what's your favorite pastry?
Speaker 1:Oh, it's hard to pick one, but I'll go with a fruit tart, especially one that my mom makes.
Speaker 2:Oh, okay, that's great, so let's get started. So what are complex genitourinary anomalies?
Speaker 1:So complex. Genitourinary anomalies include anorectal malformations, cloacal malformations with a single outflow or common channel and urogenital sinus. These are some of the most common ones, and we'll go through them in more detail. Each patient's anatomy is unique and all of these patients face various challenges when it comes to quality of life, bowel habits, urination, sexual function and reproductive health of life, bowel habits, urination, sexual function and reproductive health, so it's important to have experienced, multidisciplinary, multispecialty teams taking care of them. Typically, this involves centers that include pediatric gynecology, pediatric surgery and pediatric urology.
Speaker 2:Okay, so let's start with anorectal malformations. So what is an anorectal malformations? So what is an anal rectal malformation? It is defined by an ectopic anus, but the anatomy is often much more complex. So a vestibular fistula is the most common anal rectal malformation and this is a fistula that has an abnormal anal opening or connection outside of the anal sphincter, complex with the vulvar vestibula of the female genitalia. So that's one type of fistula that is part of the anal rectal malformation group. Other fistulas include a perineal or vaginal fistula. You can also have an imperforate anus without a fistula, where there is absence of a normal anal opening or rectal atresia, when there is a normal anal canal but a stricture proximal to the dentate line, moving on what is a cloacal malformation.
Speaker 1:So first let's take a quick step back to embryology. So we'll want to remember that a fetus has a cloaca or a common channel that contains the urinary tract, female reproductive tract and gastrointestinal tract, and these structures separate in utero around the seventh week of gestation. So a cloaca is when the rectum, vagina and urinary tract failed to separate in utero. So there's only a single outflow system, known as a common channel, instead of three separate tracts. So there's only a single outflow system, known as a common channel, instead of three separate tracts. So in these patients, instead of three openings to the external pelvis there's only one, and we consider it to be a long common channel if it's greater than three centimeters and a short common channel if it's less than three centimeters.
Speaker 2:Have you seen any newborns with cloaca?
Speaker 1:I have In our fellowship. We have our complex colorectal pelvic health clinic where we take care of anorectal malformations, and a lot of times these are diagnosed at birth, and so patients are involved in the multidisciplinary clinic from very early on in life.
Speaker 2:Can they ever be diagnosed in utero?
Speaker 1:They sometimes are diagnosed in utero, particularly if there is an outflow obstruction, so you can have urine that is collecting not only in the bladder but also like in the vagina or in the uterus if they're connected, and that can cause various problems. So sometimes there'll be cystic structures, for example in a fetus, and that might be a sign that there's something abnormal there.
Speaker 2:And they can also be diagnosed in utero if there are other anomalies, and one of the anomalous situations that can be associated with anal rectal malformations is Bactrel syndrome, and Bactrel syndrome stands for vertebral anomalies, imperforate anus, cardiac anomalies, deformities of the trachea and esophagus, renal abnormalities, limb abnormalities. So if any of these are seen on ultrasound, then it may lead to the suspicion of an anal rectal malformation when they are diagnosed. What role does a pediatric and adolescent gynecologist play in the diagnosis and treatment of these patients?
Speaker 1:For patients with bacterial associations or abnormalities or if that's suspected, then there's further workup. That's done for all of those systems that you discussed after the baby is born. But the role of the pediatric gynecologist is important at several time points in the child's life. I think it's really important in the beginning to help diagnose anatomy, to help families understand kind of what the future holds for the child. It's important at time of puberty when we start talking about periods. It's important a little bit farther down the line if they're interested in tampons, if they have questions about their sexual function and questions about reproduction. Early on it's important to identify anatomic structures and usually an exam under anesthesia is needed, ideally with a multidisciplinary team, so with all the teams present urology, pediatric surgery and pediatric gynecology. So it'll include close inspection externally and with labial traction, as well as vaginoscopy or cystovaginoscopy with the multi-specialty team.
Speaker 2:So I would imagine that infants are having exams under anesthesia to define their anatomy and then, depending on what's repaired, at what stage of life, there may be multiple exams under anesthesia and possibly multiple surgeries.
Speaker 1:Exactly yes, Because the other thing is, as the child gets older, they may not want or be comfortable with pelvic exams, especially if they've had a lot of exams and a lot of surgeries as a child growing up. So it's one important to do it under anesthesia so that we can get a good look and do a vaginoscopy and things like that. But two because we want the child to be comfortable and we want to make sure we're doing trauma sensitive care always.
Speaker 2:Right, absolutely. So tell me a little bit about a newborn that is born with a cloaca. How is that handled?
Speaker 1:So during the initial exam, when we're trying to diagnose what the anatomic structures are, we want to figure out the relationship between the urethra, vagina and rectum. So it's not always quite as simple as all three come together and have one common channel. So we want to figure out the length of the common channel, if there's a cloaca, and, from a gynecology perspective, we want to see if we can figure out the number of services the patient has, if they have more than one, the presence or absence of a vaginal septum, things like the lengths of the urethra and vagina, and so this will help with preoperative surgical planning prior to reconstruction, and it can also help us provide anticipatory guidance and counseling for puberty, menstruation, sexual health, fertility. You know, of course, if we're talking about babies, that's very far in the future for them, but parents often actually have questions about those types of things because they want to make sure they're able to see a healthy, happy future for their child and what challenges might come up.
Speaker 2:Right. So initially the initial surgery may be managed by the pediatric surgical team. Correct, especially if there's an anal imperforation and they need to do a colostomy or another type of plastic repair in order, initially, for meconium to pass but then for the infant to be able to have normal bowel movements into childhood. There's a common procedure called a posterior sagittal anal rectoplasty, and this can be done in isolation or it can be combined with a vaginal urethroplasty to mobilize the vagina and the urethra as well. Are surgeries on the vagina and urethra often done in infancy or is it more focused on the colorectal part of the anomaly in your experience?
Speaker 1:It may vary from institution to institution and sort of is a topic of debate. I mean, really the necessary things like for the child to survive is for them to be able to pass meconium, for them to be able to have bowel movements. So that's why the colostomy is done very early. So even if we're not reconstructing anything yet, we at least need a way for them to pass feces actually. And then another key component of early cloaca management is kidney protection. So because the vagina is a really stretchy, low resistance potential space, which is kind of what I referenced before, we can see this even in a fetus.
Speaker 1:Urine can collect in the vagina and create hydrocopose or like fluid in the vagina, and it can actually get so large that it can compress abdominal or pelvic structures, including the ureters. Then you have obstruction that can lead to hydrourator or hydronephrosis, which can be harmful to the kidneys. So whatever we're doing, we also have to make sure there's a way for the urine to come out, and that's also an essential part of the early newborn life. And there's various ways you can decompress a hydrocopos. Sometimes you can put a catheter in the common channel or you can place a vaginostomy which is like a tube into that vagina.
Speaker 2:Once the child has some early corrective surgery and as the child ages and moves towards puberty, do we need gynecologic involvement?
Speaker 1:Assuming normal growth, the timing and tempo of puberty should be similar to that of their peers who do not have an anorectal malformation. But what's different, of course, in these patients is that they were born without a vaginal opening at the perineum. So gynecology should follow patients. I think it's important to be involved at least in patient counseling early on. And then gynecology also becomes really important once patients near or enter puberty, because outflow tract obstructions can occur and malaria anomalies can be undiagnosed until those reproductive tract structures grow during puberty. And we'll discuss malaria anomalies in a separate episode. But I did want to mention that the likelihood of a gynecologic anomaly increases with increasing anorectal malformation complexity, so, for example, with increasing anorectal malformation complexity. So, for example, 68% of patients with a cloacal malformation may have a gynecologic anomaly, versus 5% if they just had a rectoperineal fistula. So it is important for gynecology to be part of the team, particularly as patients get closer to starting to have periods.
Speaker 2:Absolutely, and the obstructions associated with the cloacal abnormalities can be congenital or develop as a consequence of previous surgeries, such as vaginal stenosis, which can lead to blockage of menstrual flow.
Speaker 1:Right, we want to make sure our gynecologic assessment as they're getting closer to puberty includes a detailed menstrual history, as with all pediatric gynecology, that they've already started periods. We want to do our pelvic imaging. We can do our exams in office or under anesthesia if needed, and then we never want to forget our sexual history and confidential, age-appropriate adolescent interviews, as we do with any adolescent patient. You know, I think it's an easy component to forget in these complex patients when they're in a multidisciplinary clinic, particularly with specialties that may not be asking those questions. But you know we are pediatric and adolescent gynecologists at heart, and so we want to be doing the best we can to take care of the patient as a whole. You know, as they're going through puberty and with their peers, they might have a lot of questions about how they're different and how dating might be different and how their family might be different and things like that too. So it's important that we're talking to them confidentially and making sure their concerns are addressed.
Speaker 2:Right, Absolutely. And these teenagers want to be normal and so more normal care or common care that we can provide to them. It makes them feel just like their peers and that they're getting the same care as their peers. When they do go on to become pregnant, most of these young women should be delivered by cesarean section, especially if they have had complex surgeries as infants, children, teenagers, so that there is no damage to all the surgical correction that has been done.
Speaker 1:Right, as the kids get older and they start to understand more of their own medical history, we really want to make sure these patients understand what happened to them and what surgeries they had done, because when they go off into the world and they're seeing an adult gynecologist or an OBGYN or whoever it is, people might not know what happened to them and so they're going to have to advocate for themselves and that, hey, I had this type of surgery. I should not be trying to have a vaginal delivery, things like that.
Speaker 2:Yeah, and that is so important because I have seen teenagers or young adults who had complex anomalies, had surgery, didn't have a full understanding of what they were born with in terms of anatomy and didn't have their surgical records Right. Sometimes you can't track down those surgical records, so I wish that every gynecologist and every other pediatric specialist involved in the care of these patients would be mindful and make sure that these folks get their surgical records as they move on to different levels of care.
Speaker 1:I have heard of other institutions where they make like a pediatric and adolescent gynecology passport for patients who were born with anatomy that's different and had some sort of reconstructive surgery. So it has like what organs I was born with that's different and had some sort of reconstructive surgery. So it has like what organs I was born with, what was different, what surgeries I had, and maybe they can take a picture of it to keep it on their phone, because probably they won't physically be able to remember where a card is. But I think it's a nice way for them to be able to communicate with their healthcare providers in the future.
Speaker 2:That's really great. I like that idea. I will have to keep that in mind for the future. So, moving on from anal rectal malformations, let's talk about urogenital sinuses. So what is a urogenital sinus or urogenital malformation?
Speaker 1:Going back to embryology again, a fetus will start with a cloaca. That part separates out. The next thing to separate out is the urogenital sinus. This is where the urethra and the vagina open into a common channel without the associated anorectal malformation. So the rectum is separate, but the urethra and the vagina are now connected and this separation is supposed to happen sometime between the 6th to 12th week of gestation. So this is often a feature we'll see in patients with CAH or congenital adrenal hyperplasia and ambiguous genitalia. What happens with CAH is the female fetus is exposed to excess androgen and then can be born with clitoral enlargement and a UG sinus. These patients still have normal internal genitalia development, so the uterus and the ovaries are still there.
Speaker 2:And when are these anomalies diagnosed, or, in other words, what stage of life?
Speaker 1:Typically these are diagnosed, especially if they have ambiguous genitalia. It can be diagnosed at time of birth. So I know for a lot of families it can be distressing to be told the baby is a girl. And then the baby comes out with significant clitoral enlargement and people even on labor and delivery might say it's a boy and then the whole situation becomes very confusing for families.
Speaker 2:And there's a classification for urogenital sinus anomalies and that is called the Prater classification from one to five. So one I would imagine, from one to five, so one, I would imagine is the least complicated anomaly and that's clitoral hypertrophy only. Class two is clitoral hypertrophy with urethral or vaginal orifice present but very close to each other. Class three is clitoral hypertrophy with a single urogenital orifice, so both the vagina and the urethra are one opening on the perineum. Class four is a penile clitoris, which is extreme clitoral enlargement associated with complete fusion of the labia majora. And class five is complete masculinization of the external genitalia, but without testes, because they do have XX chromosomes and they do have uteruses, ovaries and tubes. So what happens to these babies when they're born? And there is confusing genitalia and suspicion of the urogenital sinus.
Speaker 1:The way we are able to clarify anatomy is similar to patients with an anorectal malformation, where we do an exam under anesthesia, and this includes a cystoscopy and vaginoscopy, and we want to do measurements including lengths of the common channel, the length and width of the clitoris, the location of the vagina with respect to the bladder neck and the perineal meatus, and the external genitalia appearance, and all of this should be done while working very closely with pediatric urology as well. So this is another place where we have a multidisciplinary team.
Speaker 2:Right. But unlike anal rectal malformations with anal obstruction or some other obstruction to the passage of feces, it's an urgent surgery to correct that. Correction of urogenital sinus without obstruction of urine flow is a non-urgent surgery, even if there's significant clitoromegaly.
Speaker 1:This is another kind of point where different institutions manage these things differently. But it's true, if they're asymptomatic meaning they're able to urinate, they're not having recurrent UTIs, they're not having any concerning symptoms. It's not an urgent surgery and it's not something that needs to be operated on at a very young age.
Speaker 2:It takes a lot of shared decision-making as to when surgery should be carried out.
Speaker 1:It really does and some parents feel that they want to do surgery immediately on their very young child because explaining to daycare, to family, to anyone changing diapers that the anatomy might look different than other children is really difficult for the parents. But that always is an important discussion to be had because when we talk about risks and benefits and advocating for our patients, you know we shouldn't be treating social discomfort of the parents. We really should be treating medical necessity for the child.
Speaker 2:Absolutely, and there has been a lot of talk by people who are members of this community that they would have preferred to make decisions about surgery themselves as they got a little older, so that's a controversial area. What is the long-term management of patients with urogenital sinus, both pre-construction, post-construction, and how does a pediatric and adolescent gynecologist take care of these patients?
Speaker 1:So bladder continence is really important, and this is really why the pediatric urology aspect of the team is important, because typically we're able to maintain continence regardless of the approach, and patients report a good quality of life. From a gynecology standpoint, we want to make sure we're discussing their future sexual health, reproductive health, fertility, similar to post-operative changes discussed with our cloacal reconstructions. Patients with UG sinuses that were corrected can have vaginal stenosis or obstructive issues. I don't think we mentioned this earlier, but stenosis is when the opening to the vagina or part of the vagina is strictured or smaller, scarred down than it should be, and so it can be managed with everything from less extreme, like vaginal dilation that patients can do on their own. We can also do surgery. We can use grafts, things like that, to try to help correct stenosis, but of course, that's a conversation between patients and their providers as well.
Speaker 2:Right, and it's also something that should take place later in the teenage years. It does not have to be treated in childhood, as long as there's no obstruction of urine flow and no obstruction of menstrual flow. Absolutely, and because CAH is a hormonal problem as well, we have to make sure that these patients follow up with their endocrinologist and continue on their hormone or steroid therapy, whatever they're receiving.
Speaker 1:The other really important team member is the psychologist or the psychiatrist. So psychosocial issues should always be assessed and addressed regularly with providers, and ideally providers who have experience working with this population, because these are pretty rare conditions and it is really complicated. So ideally we want our patients working with psychologists who are at least familiar with the concepts that we're talking about and feel comfortable talking about these things.
Speaker 2:Absolutely, because we don't want these people to feel shamed, we don't want them to feel stigmatized and we want them to lead as normal a life as possible. So absolutely.
Speaker 1:These are really complicated conditions to sort of wrap your head around and they're pretty rare to see in person. But it's important to have multidisciplinary teams to make sure we're doing as good of a job as we can with trauma, sensitive care and that we really are working with the families and the patients to make sure we're doing what is best for them and making sure all of their voices are heard.
Speaker 2:Right, absolutely Making sure that they understand their anomalies as they get older and they're old enough to understand. Make sure they have their medical records and hopefully other gynecologists have an understanding of these anomalies, because these patients are going to walk into the offices of adult gynecologists an understanding of these anomalies because these patients are going to walk into the offices of adult gynecologists. We don't want any stigma there. We don't want somebody saying, oh my God, I have no idea what this is or how to handle it or what happened to you. We want everybody to have a really good, even if basic, understanding of these issues.
Speaker 1:Right, and I think that's part of the beauty of this podcast. You know we are covering some topics that are rare and very subspecialized, but we're bringing information to a wider audience and, even if you're not comfortable being the physician taking care of these surgical problems, it's important for all of us to understand as many conditions as we can so we can relate to our patients and, if needed, refer them appropriately.
Speaker 2:Absolutely so. In conclusion, our 15-year-old patient with a history of an anal rectal malformation presents with the inability to insert a tampon. Puberty progressed normally. Menarche occurred at age 12. She has regular menses without any severe cramps or other issues. We can assume there are no obstructions, and certainly we can always check for that, if we need to, with an ultrasound. And so how would we manage this patient when she cannot insert a tampon?
Speaker 1:We always want to get our detailed history and, as we talked about, including a medical and surgical history and, if we're able to, ideally this would include operative reports to understand her anatomy and reconstruction. We would want to do a careful exam, possibly even an exam under anesthesia, and it's likely that if she's had an anorectal malformation that was repaired, she probably has some sort of stenosis that's secondary to postoperative changes. But we also want to do a pelvic floor assessment, like we would with any patient with pelvic pain, and we also want to assess her sexual and reproductive health concerns and her future goals.
Speaker 2:Okay, so that concludes our discussion today about complex urogenital anomalies. I thank everybody for listening. You can find this podcast on the NASPAC website and you can find this podcast on anywhere you enjoy listening to your podcasts, like Apple and Spotify and so on. We'd love for everybody to go on the NASPAC website and fill out a survey so that we can learn about how you heard about this podcast and what you think about it. And if you want to provide any feedback to us, you can email us at PAG over pastry that's capital P-A-G over pastries at gmailcom and check out our other podcasts. So, megan, thank you so much for doing this podcast today and thank you everybody for listening.
Speaker 1:Thank you, Susan, for having me.
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