Associations of Genitourinary Anomalies with Reproductive Anomalies

Mullerian anomalies are known to be associated with renal anomalies in 20 percent to 40 percent cases and 30 percent of females with unilateral renal agenesis have reproductive tract anomalies [1]. Females with a known unilateral renal anomaly (including agenesis, dysgenesis, ectopic location, and dysplasia) should undergo evaluation for a concurrent reproductive tract anomaly [2]. By recognizing this association and having an increased index of suspicion, an obstructive phenomenon at menarche can be avoided. Previous reviews also support the association of Mullerian anomalies with anorectal malformations and complete evaluation of the reproductive system of such patients. In a series of 272 patients treated for imperforate anus with a rectovestibular fistula, 5 percent had an associated vaginal septum and 7 percent had an absent vagina [3]. Most pediatric surgical providers are aware of the strong association of gynecologic anomalies with a cloacal anomaly, which is cited in 53 percent to 67 percent of patients who have uterovaginal anomalies [4,5,6]. Gynecologic abnormalities seem to be relatively uncommon in patients with imperforate anus and a rectoperineal fistula. Bladder exstrophy and epispadias complex (BEEC) is usually associated with a normally developed uterus; however, that anatomic configuration of the uterus is distorted due to the angle of the interaction with the bladder. The clitoris is bifid and the vagina tends to be short (5–6 cm) and parallel to the floor when the patient is standing; the cervix is found low down, near the introitus and there may be an intriotal stenosis. The incomplete configuration of the levator ani and the pelvic floor musculature means there is an increased risk of pelvic organ (uterovaginal) prolapse (POP) [7]. Each orifice is moved anteriorly.

The primary urological consideration is the safety of the upper tracts such that all of these patients will require lifelong review and surveillance of their renal architecture and function. Fundamental principles also apply – they need a reservoir to store urine, a continence mechanism, and a means by which urine can be emptied.

In cloacal anomalies, the ability to achieve continence with spontaneous voiding relates to the length of the common channel (CC). A CC longer than 3 cm is more complex to reconstruct and less likely to have continence (i.e., dry and voiding spontaneously) than those with a shorter CC. BEEC or female epispadias involve an open urethral sphincter. Part of the early surgery will be to reconstruct this and close the bladder. Many patients (81 percent) require bladder augmentation with a cystoplasty; 70 percent will require urinary diversion – this occurs at a mean age of 11 years [8]. There are a variety of techniques for urinary diversion including vesicostomy, ureterostomy, ileal conduit (all incontinent stomas), a continent catheterizable channel (Mitrofanoff) with or without cystoplasty, and a ureterosigmoidostomy (ureters anastomosed to a sigmoid/rectal pouch with a dual fecal and urinary stream). All have both advantages and disadvantages with the need for long-term follow-up. These are complex patients and need lifelong care in a specialized center.

Understanding Reproductive Anatomy

It is essential to understand the type of reproductive anomaly and expected effects both on short- and long-term outcomes. Non-obstructive uterovaginal anomalies will not produce acute concerns either in infancy or at menarche, thus management may be deferred until later adolescence or young adulthood. Since possible menstrual obstruction at puberty may lead to catastrophic consequences, obstructive anomalies should be identified and addressed early. In cases with complex genitourinary anatomy, it is essential to fully understand the uterovaginal anatomy to prevent these adverse outcomes. Previous literature has reported a 36 percent to 41 percent rate of menstrual obstruction at puberty [9] with some complex anomalies, such as cloaca. If not diagnosed early, not only can this complication produce significant pain, often requiring urgent surgical intervention, but it can also lead to infertility. In patients with less pelvic anatomic complexity, undiagnosed obstructive phenomenon may have less profound consequences; thus, management could potentially be deferred until postpuberty. However, recent evidence suggests that families may be interested and receptive to learning of these concerns earlier [10]. If patients are undergoing early surgery of the urinary or colorectal systems, uterovaginal anomalies, such as a longitudinal non-obstructive vaginal septum, may be effectively treated in one procedure. This can be accomplished with one anesthetic exposure, with optimal surgical exposure, and without possible psychosocial concerns seen in adolescence.

The timing of an accurate assessment of reproductive anatomy is recommended before or during the definitive repair of any complex genitourinary anomaly. This can be performed preoperatively using radiologic modalities or optimally under coincident anesthesia at the time of definitive surgical repair of the anomaly. The multidisciplinary surgical team should be prepared to undertake any necessary surgical intervention such as vaginal septum resection or resection of atretic Mullerian remnants, if diagnosed. Conveniently, in many complex malformations such as BEEC or cloaca, an exam under anesthesia with both cystoscopy and vaginoscopy is often undertaken for the benefit of surgical planning. Such examination may allow definitive information about adequate outflow. Assessment of the internal reproductive anatomy may also be performed whenever an intra-abdominal procedure is performed. Since patients with complex pelvic anatomy often undergo multiple intra-abdominal procedures such as creation and takedown of a colostomy or urinary diversion procedures, these may be additional surgical opportunities to assess and document internal reproductive anatomy. However, since in many cases the reproductive anatomy was not evaluated at any of these early opportunities, this assessment can be performed later, with the combination of laparoscopy at the time of creation of an appendico-vesicostomy (a continent catheterizable channel) as indicated for bladder management. Some patient may need complex bowel management – these tend to be confined to neuropathic patients, cloacal exstrophy, and some cloacal anomalies. This may include the formation of an antegrade continent enema (ACE) channel or colostomy/ileostomy. Any reconstructive surgery may represent another opportunity for assessment. The goal is to have as much information as possible regarding reproductive anatomy so that a definitive plan can be in place for implementation on or around the onset of menarche. Accurate knowledge of the reproductive anatomy allows both parents and providers to adequately prepare well ahead of anticipated pubertal changes and arrange necessary surveillance or planned interval procedures.

During either a laparoscopy or laparotomy, the uterus/uteri should be identified and location(s) within the pelvis documented. The insertion of the Fallopian tubes into the uterine body should be recorded, in addition to the communication of the Fallopian tubes with the ovaries. Documentation of patency of the Mullerian system should also be considered. Pediatric feeding tubes can be used to cannulate the distal aspect of each Fallopian tube; gentle compression of the fimbriae around the tube allows the antegrade instillation of saline through the Fallopian tube, uterus, cervix, and vagina of the Mullerian system bilaterally (Figure 9B.1). This assessment of patency can provide reassurance regarding the future outflow of menstrual products. Initially described during open laparotomy procedures, this assessment of the Mullerian system may also be performed during laparoscopy. Antegrade instillation of saline may be performed using laparoscopic instrumentation with the same pediatric feeding tube (Figure 9B.2).

Figure 9B.1 Saline perturbation of the Fallopian tube performed during an open laparotomy during reconstructive surgery as a child to confirm patency of the reproductive tract for future menstruation.

Figure 9B.2 Saline perturbation of the Fallopian tube performed during a laparoscopy for another indication prior to the onset of puberty to confirm patency of the reproductive tract for future menstruation.

Hydrocolpos

The most significant gynecologic concern during infancy is the presence of hydrocolpos. Hydrocolpos involves the accumulation of fluid, likely urine, within the vagina causing distension of the vagina or hemivaginas. Secondary obstruction of the urinary tract can occur with the development of hydroureter and/or hydronephrosis. The definitive etiology of hydrocolpos is unclear; however, it seems to occur more commonly in females with vaginal duplication, a complex cloaca (CC; particularly in cases with a long CC), or patients with urogenital sinus anomalies (also referred to as posterior type cloaca by some expert surgeons). In the literature, the incidence of hydrocolpos in cloaca patients has been between 28 percent and 34 percent [11]. In a previous review of 645 patients with cloaca, data regarding hydrocolpos were available for 638 patients and data regarding reproductive anatomy were available for 622 patients. Uterovaginal duplication was a statistically significant association in cloaca patients with hydrocolpos [12].

The treatment of choice for persistent hydrocolpos is drainage of the vagina with vaginostomy, which can be performed with other medically indicated procedures, such as creation of a colostomy. A pigtail catheter can be placed transabdominally that should be left in place until the definitive surgical repair of the genital anomaly. Other techniques have not been shown to be effective in decreasing risk for infection, including sepsis, or persistent inflammation that may adversely affect mobilization at the definitive surgical repair [13]. If a vaginal septum is present with two hemivaginas, a window within the septum is needed to allow adequate drainage of both hemivaginas, with a single tube. When creating the window, attention should be paid to the location of the cervix on each side of the septum. Most such cervices are located very close to the septum at the superior aspect and often at the similar levels of the vagina. Trauma or damage to the cervix even in infancy has the potential to increase the risk of cervical insufficiency as an adult woman. Cervical insufficiency is a recognized cause of mid-trimester pregnancy loss [14]. Vesicostomy may be necessary in select cases, when a patient has a solitary kidney, a cloaca with an extremely long CC, or high insertion of the vagina in patients with a persistent urogenital sinus or evidence of renal insufficiency. Unification of the two hemivaginas and resection of a vaginal septum may be addressed at the definitive surgical repair for most patients undergoing complex pelvic reconstruction.

Vaginal Septum

During infancy and childhood, the presence of a longitudinal non-obstructing vaginal septum has no clinical ramifications. However, as young women enter puberty and become menarchal, they may desire to use tampons for menstrual hygiene. The presence of a vaginal septum prevents effective use of a tampon for menstrual flow and may, in adult women, cause painful vaginal intercourse. The definitive surgical repair of the urogenital anomaly may allow desirable surgical exposure and access for the opportunity to resect the distal aspect of the septum and unify the distal vagina. The advantages of resecting the septum at the definitive repair include a single anesthetic exposure, optimal surgical exposure, and the ability to effectively use tampons for menstrual hygiene beginning at menarche, if desired.

Risk of Obstructive Menstruation

Effective menstruation requires adequate uterine development, with the presence of endometrium within the uterine body and a patent outflow tract. Underdeveloped structures may have variable amounts of endometrium, but if present, they require an adequate outflow tract. Confirmation of the patency of the reproductive tract before menarche has been recommended as an important technique to avoid obstruction, pain, and risk to reproductive organs and fertility. If young women reach puberty without such an assessment, clinical and ultrasound follow-up is recommended on a regular basis to follow menstrual frequency, adequacy, and possible signs or symptoms of obstruction (cyclic followed by persistent lower quadrant or pelvic pain). In young adult women, established methods, such as retrograde instillation of contrast material using fluoroscopy can provide beneficial information (hysterosalpingogram).

Parents, primary care providers, and other members of the medical team should be counseled regarding expectations and precautions. Ultrasound surveillance of the reproductive structures should be considered as an adjunct for early detection of signs of obstruction. With pelvic ultrasounds beginning about 6 to 9 months after the onset of breast development and continuing every 6 to 9 months through menarche, unexpected obstructive complications can be avoided. The actual images should be reviewed with special attention to endometrial thickness in the uterine body (bodies). If an obstruction to menstrual flow is detected by visualization of a thickened endometrium with hematometra and/or hematocolpos, hormonal suppression should be initiated immediately to minimize adverse sequelae.

Hormonal suppression of endometrial stimulation and menses prevents continued accumulation of obstructed menstrual products. It allows symptom relief and resolution of inflammatory changes, and it increases the potential for salvage of reproductive structures. After inflammatory changes have resolved and retained menstrual fluid has been drained and/or resorbed, surgery may be performed to establish an adequate outflow tract or resect atretic structures.

Patients with cloacal exstrophy may be at even greater risk of concerns at the time of puberty and menstruation. There is a well-known association of uterovaginal duplication in girls born with cloacal exstrophy [18]; however, the uteri and vaginas can be widely spaced, even at opposite sides of the separated pelvis. In this situation, it is not uncommon to fail to recognize the existence of one side of the Mullerian system at the time of definitive repair, leaving a risk of obstruction at menarche and the need for more surgery in an already tenuous abdomen and pelvis. Unilateral surgical resection of an atretic Mullerian structure may avoid future problems if a well-developed hemiuterus with a patent outflow tract is present on the opposite side. This is especially important in patients with cloacal exstrophy, as they will likely have more a complex surgical abdomen with possible bladder augmentation/neobladder, continent cathererizable bladder access (Mitrofanoff), and an appendicostomy or permanent stoma for bowel management. Subsequent takedown and replacement of these continent conduits during surgery for the reproductive tract can potentially put the continence mechanism and integrity of these quality-of-life improving interventions at risk.