Part of a five-part series on gynecologic care for patients with anorectal malformations (ARM), developed by the Gynecology Committee of the Pediatric Colorectal and Pelvic Learning Consortium (PCPLC). This article reviews the timing and recommended methods of gynecologic screening and management in the prepubertal period.

Key Points

• Early opportunistic evaluation of upper and lower Müllerian anatomy is critical for understanding the gynecologic anatomy.
• Assessment of Müllerian structures allows for risk-stratification and anticipatory counseling of families regarding the risk of menstrual obstruction with puberty. Upper Müllerian structures without discreet outflow tracts are at the highest risk for menstrual obstruction.
• The functional status of uterine structures is difficult to confirm during the prepubertal time frame due to lack of estrogenization. Therefore, in the majority of cases, uterine structures should be left in situ in order to preserve potential fertility.
• Native vaginal tissue should be used for vaginoplasty whenever possible.
• In most cases in which there is no distal vagina for an outflow tract and a native vaginal pull-through is not possible, neovagina creation can be delayed until puberty.
• Clear medical documentation using consistent terminology and periodic caregiver education are critical for long-term gynecologic care.

Introduction

The prevalence of gynecologic anomalies in patients with an ARM differs by diagnosis, ranging from 7–35% in patients with a rectoperineal or rectovestibular fistula, up to 80% in patients with a persistent cloaca. Recommendations and urgency of prepubertal evaluation are therefore categorized by ARM diagnosis. While the pubertal period is when Müllerian anomalies become clinically apparent, the prepubertal period is when primary ARM repairs occur and when patients interface most frequently with the healthcare system. This decade presents many opportunities to begin delineating the anatomy and to counsel families regarding puberty, and sexual and reproductive health.

In the prepubertal evaluation, one main aim is to delineate Müllerian anatomy in anticipation of future menarche, using a combination of direct visualization (exams) and indirect visualization (imaging). Anesthetic events present opportunities to examine the upper and lower Müllerian structures with minimal trauma to the patient. The second aim is to intervene with gynecologic surgery when appropriate; in patients with ARMs that affect the urogenital sinus, or with certain Müllerian anomalies, prepubertal gynecologic surgery may be warranted. If attention to Müllerian structures is neglected, surgical planning becomes suboptimal and informed decisions cannot be made by the caregiver. All patients with ARMs, and the centers that care for them, benefit from coordination with a pediatric and adolescent gynecologist, facilitating thorough evaluation, management, and discussion of future reproductive health starting in infancy.

Evaluation in the prepubertal age group is limited by the lack of estrogenization, which can lead to uncertainty regarding the presence and function of Müllerian structures due to their small size. Despite this, prepubertal evaluation allows risk-stratification for the likelihood of menstrual obstruction and early counseling of families regarding sexual and reproductive health. Management in the prepubertal period should focus on balancing the risk of iatrogenic sterilization, the risks of additional surgery, and the patient's long-term reproductive health.

Evaluation

Ultrasound

Up to the first 6 months of life, a transabdominal pelvic ultrasound (US) may be a helpful screening tool for evaluating upper Müllerian structures, though its utility wanes in the 3–6 month range. During this time, maternal estrogen effects and mini-puberty increase the size of the uterus and cervix, sometimes also stimulating endometrial growth visible as a hyperechoic trilaminar stripe. While useful as part of an initial evaluation, this window is not diagnostic and has limitations; Müllerian anatomy cannot be definitively confirmed until puberty. Ultrasound screening is not recommended between 6 months and puberty, given the limited utility of evaluating Müllerian structures without hormonal stimulation. If resources and timing allow, a prepubertal screening pelvic US can be considered for all patients with ARM between 0 and 6 months of age; if resources are limited, screening could be reserved for those at higher risk of Müllerian anomalies (rectovestibular fistula, rectovaginal fistula, and known urologic anomalies).

All patients with a persistent cloaca need a pelvic US at birth to assess for hydrocolpos and evaluate upper Müllerian structures; hydrocolpos may warrant early intervention in patients with hydronephrosis or urinary obstruction. Although uterine structures may be small with suboptimal visualization, this initial screening US can provide useful anatomic information for this highest-risk group. For patients presenting outside the 6-month window, routine screening US is unlikely to be beneficial, though a review of any renal or bladder imaging already performed for upper Müllerian structures posterior to the bladder is worthwhile.

Physical Exam

Non-cloaca ARM without fistula: Gynecologic structural differences are expected to occur at a rate similar to the non-ARM population. An external genital exam with labial traction is recommended. If a discrete and orthotopic urethral meatus and vaginal introitus are seen, vaginoscopy is not necessary, as typical gynecologic anatomy is expected. If a vaginal introitus is not identified, an exam under anesthesia and possible cystovaginoscopy should be performed to ensure a patent vaginal outflow tract and to rule out a urogenital sinus. If a vagina is not identified, Müllerian structures should be examined opportunistically at the time of other intra-abdominal operations, such as colostomy creation or take-down. The absence of a lower vagina raises concern for Müllerian agenesis, an obstructive uterovaginal anomaly, or imperforate hymen, requiring anticipatory guidance and close monitoring at puberty to prevent a prolonged undiagnosed menstrual obstruction.

Non-cloaca ARM with fistula: In infants with a rectoperineal, rectovestibular, or rectovaginal fistula, we recommend, at minimum, an external genital exam with labial traction, often performed while the patient is awake in the office or prior to hospital discharge. If typical external anatomy is seen (separate urethral and vaginal openings), an opportunistic cystovaginoscopy at the time of posterior sagittal anorectoplasty (PSARP) should be considered to assess for a vaginal septum and the number of cervices. Cystovaginoscopy has the highest yield in ARMs with an increased incidence of Müllerian anomalies, such as rectovaginal and rectovestibular fistula — in a large patient database, 30% of patients with a rectovaginal fistula and 16% with a rectovestibular fistula had a gynecologic anomaly, compared to about 8% with a rectoperineal fistula (where cystovaginoscopy may be less useful if time and resources are limited). If there is no discrete vaginal opening on external exam, cystovaginoscopy should be performed prior to or at the time of PSARP to rule out vaginal atresia; if a vaginal opening is not identified on cystovaginoscopy, diagnostic laparoscopy should follow to evaluate intra-abdominal Müllerian structures. The absence of a vaginal opening places the child at high risk for menstrual obstruction at puberty. Visualization of upper Müllerian structures confirms they are present, but functional status — the ability to make menstrual blood or gestate a pregnancy — cannot be determined at this stage; if no structures are visualized, they may truly be absent or simply too small to see prior to hormonal stimulation, and these patients should still be considered at risk for obstruction until pubertal evaluation confirms otherwise.

VACTERL or ARM with urologic anomalies: The VACTERL association consists of three or more of: vertebral anomalies, anorectal malformation, cardiovascular anomalies, tracheoesophageal fistula, and renal and limb anomalies. Patients with VACTERL and ARM are at high risk of a gynecologic anomaly — up to 44% in some cases, especially with a urologic anomaly — leading some to suggest VACTE(G)RLS as an updated acronym. Patients with an ARM and a urologic anomaly, even without full VACTERL association, still have a 41% risk of a gynecologic anomaly. If a patient has an ARM and one or two other VACTERL anomalies (particularly a renal anomaly), an opportunistic cystovaginoscopy is recommended; if no vagina is identified, opportunistic identification of the upper Müllerian structures should be performed, given the high risk of menstrual obstruction.

Persistent cloaca: Persistent cloaca is one of the rarest ARMs and warrants treatment in a skilled center with a multidisciplinary team. US should be performed at birth in all cases to assess for hydrocolpos and resulting hydronephrosis. Gynecologic consultation should be considered, when possible, at the time of the initial diversion colostomy for external genital examination and intra-abdominal inspection of Müllerian structures; findings should be clearly documented, ideally with intra-operative photos, given the difficulty of definitive identification. Cystovaginoscopy in the immediate neonatal period has limited utility and potential harm, but should be performed at the time of the cloacagram in preparation for definitive repair, with attention to the length of the common channel, urethra, and vagina, the presence of a vaginal septum and cervical mucus, and the number of cervices. In most cases these measurements will be congruent with cloacagram findings; where they are discordant, cloacagram length measurements may be more accurate, given the potential for distortion during vaginoscopy from fluid distention. Colostomy take-down is another opportunity to evaluate the upper Müllerian structures if not previously visualized. If a patient had their definitive repair elsewhere and requires a corrective reconstructive procedure, an opportunistic genital exam and cystovaginoscopy at the time of the corrective operation is recommended to evaluate the perineal body, vaginal introitus caliber, and lower Müllerian anatomy, allowing for ongoing counseling regarding the status of the repair and potential complications such as introital stenosis prior to puberty.

Risk of Müllerian Anomaly by ARM Diagnosis

DiagnosisRisk of Müllerian anomalyNon-cloaca ARM7–35%CloacaUp to 80%Non-cloaca ARM without fistula5%Rectoperineal fistula8%Rectovestibular fistula16%Rectovaginal fistula30%ARM with VACTERL40%ARM with VACTERL and renal anomaly44%ARM with one other VACTERL-associated anomaly32%ARM with renal anomaly41%

Management

Management of Hydrocolpos

For infants presenting with hydrocolpos, most families can be taught clean intermittent catheterization (CIC) to allow adequate urinary drainage prior to primary cloacal repair. Hydrocolpos that is not adequately drained can lead to progression of hydroureteronephrosis, kidney damage, vaginal inflammation and scarring, and, rarely, vaginal perforation resulting in peritonitis. An US should be performed 1–2 days after initiation of CIC, and at periodic intervals, to confirm adequate drainage and improvement of hydroureteronephrosis. In the early days of life, CIC should be performed every 2–3 hours; as the neonate grows, spontaneous drainage may increase and CIC frequency may decrease. Vaginostomy or interventional radiology-guided transabdominal drain placement can be considered if self-catheterization or spontaneous drainage are not feasible, potentially at the time of the initial diverting colostomy. Tubeless vaginostomy is often preferred over indwelling catheters, which can increase the risk of ascending infection, clogging, or dislodgement. In many cases, hydrocolpos may be divided by a longitudinal vaginal septum, requiring care to ensure adequate drainage of both cavities, which may necessitate incision or perforation of the septum, or bilateral drains if using interventional radiology-guided placement.

Management of Uterine Concerns

While a "functional uterus" is medically defined as one with endometrium that produces menstrual blood, functionality to a patient includes the ability to menstruate, conceive, gestate, and deliver. This functionality is difficult to discern at prepubertal evaluation due to the small size of the structures and lack of hormonal stimulation. The presence of a cervix is usually indicative of a uterus that menstruates and can gestate a pregnancy. In general, it is recommended to leave uterine structures in situ whenever possible, even with concern for an obstructed outflow tract, to preserve the option for future fertility and future evaluation as hormone-sensitive structures enlarge with puberty. Non-urgent operations (such as resection of uterine remnants) can be deferred until the patient can be part of shared decision-making, consistent with general recommendations for patient bodily autonomy. Removal of prepubertal uterine structures should be approached with extreme caution and in coordination with gynecology, as prepubertal visualization is often inaccurate and has permanent effects on fertility — one study of 41 post-pubertal patients with persistent cloaca found that 6 of 10 patients thought to have Müllerian agenesis (with or without atrophic uterine remnants) later demonstrated uterine function at puberty. A rudimentary intraoperative appearance does not always mean the structure is absent or non-functional.

In some instances, antegrade saline pertubation can allow for assessment of tubal, uterine, cervical, and vaginal patency. Patients and families should be counseled on the location and number of uterine structures left in situ, as these will need close monitoring in the peri-pubertal time frame. In cases of a unicornuate uterus with a contralateral uterine remnant, the atrophic or non-functional remnant can be resected at the time of primary repair or other intra-abdominal operations, once the diagnosis is confirmed (a developed unicornuate uterus, a second lateral remnant, and a patent single vagina with a single cervix connected to the unicornuate uterus). Definitive management of a uterine remnant in this specific instance, where the contralateral side is patent and well-developed, can decrease the need for additional operative procedures while maintaining the prospect for future fertility.

Management of Vaginal Concerns

Prepubertal evaluation of Müllerian structures is especially valuable in discussing potential vaginal procedures, helping guide the timing and approach for vaginal reconstruction while balancing the benefit of a single surgery in infancy against patient autonomy, shared decision-making, and the risk of additional vaginal reconstructions due to complications or sequelae of the index prepubertal surgery.

For patients who require vaginal reconstruction, a vaginal pull-through with native vagina should be performed at the time of the initial ARM repair whenever possible — native vagina is preferable to graft tissues in all instances. Vaginal pull-through or neovagina creation should only be considered at the time of other reconstructive procedures, not as stand-alone operations in the prepubertal age group. If no upper Müllerian structures are present, vaginoplasty should be delayed until puberty; even in suspected Müllerian agenesis, surgeons should remain vigilant to avoid injury to any potential Müllerian structures, which may be too small to identify at this age. Families should be counseled on the limitations of prepubertal evaluation and the risk of an obstructive anomaly not diagnosed until these hormone-sensitive structures grow with puberty.

Patients with suspected Müllerian agenesis with an atrophic uterine remnant (without identifiable connection to the vaginal introitus) can undergo delayed vaginal reconstruction, with neovagina creation postponed to a more age-appropriate time given the uncertain menstrual and gestational potential. Neovagina reconstruction using bowel at this age can be associated with significant discharge, neovagina prolapse, vaginal stenosis, redundant neovaginal length, inflammatory bowel disease, diversion colitis, and reduced ability to perform cancer screening; because of these risks, prepubertal blind-ending bowel neovaginal reconstruction has generally fallen out of favor. Delaying neovagina creation preserves patient bodily autonomy and shared decision-making as the patient matures, and leaves open other vaginoplasty options as operative techniques (including minimally invasive and image-guided approaches) continue to advance and potentially reduce pelvic and perineal scarring.

Some surgeons propose that, in patients with the condition historically known as "rectovestibular fistula with absent vagina" (rectovestibular fistula and Müllerian agenesis), a remnant of the rectovestibular fistula may be left in situ, if appropriately located, to serve as a neovagina and allow for future vaginal dilation if needed. For patients with an ARM (other than cloaca) who have distal vaginal agenesis with upper Müllerian structures present, neovagina creation can generally be delayed until puberty. Except in these scenarios of suspected Müllerian agenesis, patients with a persistent cloaca typically undergo vaginal reconstruction at the time of cloaca repair, given the close proximity of gynecologic and urologic structures and to mitigate future urologic risks. If the vagina, uteri, and cervix/cervices are all present, a vaginal pull-through procedure should be performed if possible; if there is too large a gap between native vaginal tissue and the intended introitus location, a bowel interposition graft should be considered to reduce the risks of anastomotic separation, future menstrual obstruction, and additional surgery in a scarred site.

Currently, intestinal grafts remain the recommended and preferred tissue type for neovagina creation at the time of primary repair, though societal, socioeconomic, and future-surgical-risk factors may influence timing decisions in some cases. Immediate post-operative dilation is generally not required after bowel neovagina creation, though patients are at risk of future vaginal stenosis and many will require additional reconstruction or dilation later. Other tissue types (buccal mucosa, split-thickness skin graft, peritoneum, allograft) have been used in the non-ARM population but are not routinely used for patients with a cloaca at the time of primary repair in the prepubertal age group, given the need for post-operative stent placement and vaginal dilation. When vaginoplasty is performed, approximating the uterine remnants to the apex of the neovagina is recommended to allow for future identification, as they may develop into functional uteri during puberty despite a rudimentary appearance.

If a bowel neovagina is created, families should be counseled on potential long-term consequences, including diversion colitis, inflammatory bowel disease, and gastrointestinal malignancy in the bowel neovagina — the earliest reported case of gastrointestinal carcinoma in a bowel neovagina occurred seven years after vaginoplasty. It is recommended to screen with flexible sigmoidoscopy beginning five years following vaginoplasty, with more frequent evaluation as indicated by findings, symptoms, and risk factors, performed in conjunction with gastroenterologists or colorectal surgeons.

Resection of a longitudinal vaginal septum at the time of ARM repair can be considered in select cases (such as cloacal repair or when other intravaginal surgery is needed). If the septum is not resected in infancy, the family should be counseled regarding possible future resection, usually after thelarche, to prevent difficulty with tampon use and dyspareunia. The management of post-operative vaginal stenosis should be delayed until puberty; dilation or reconstruction for stenosis is not indicated in the prepubertal age group, as it does not pose issues at this age, and waiting allows for assessment of patient readiness, shared decision-making, and a reduced frequency of postoperative re-stenosis.

Counseling

During childhood, discussion of pubertal expectations (timing and tempo of puberty, anticipated body changes, effects of hormones on gynecologic structures) and known or unknown gynecologic anatomy should occur at regular intervals in an age-appropriate manner. Repeated interactions ensure information is heard multiple times in varying ways; visual aids and a teach-back approach can support this process and confirm mutual understanding between patients, caregivers, and clinicians. Acknowledging and preparing for puberty also signals to families that gynecologic structures and reproductive health are not an afterthought.

Given the high prevalence of Müllerian anomalies and the significant quality-of-life impact of obstructive anomalies, all patients with ARMs should be counseled on the risk of an obstructive Müllerian anomaly and alerted to the need for prompt evaluation of concerning symptoms (primary amenorrhea with severe pain, significant dysmenorrhea, or purulent discharge), especially in the peri-pubertal time frame. When there is high suspicion for an obstructive anomaly, these anticipatory concerns should be discussed during infancy and continued as the patient approaches puberty. Anatomy counseling should occur regularly and include multiple forms of education: visual aids, plain-language discharge instructions, and closed-loop/teach-back verbal communication. Clinicians should clearly document a patient's high risk of future menstrual obstruction to heighten awareness for other providers unfamiliar with ARM care; ongoing education and continued vigilance can prevent a delay in diagnosis.

Fertility discussions can begin at the time of initial evaluation, acknowledging that more information will be gathered as the patient grows and technology advances. When a uterine anomaly is identified or suspected, there is generally no indication for metroplasty or other reconstructive uterine surgery to normalize the uterus's appearance, as this does not improve fertility outcomes except in specific cases of recurrent pregnancy loss. Families should be counseled on the number and location of the uteri and potential fertility implications, and caregivers should be reassured that patients with an ARM have normal ovaries and ovarian function; despite the young age of the patient, fertility concerns are often at the forefront of caregivers' minds.

Thorough documentation and communication about which patients would benefit from opportunistic exams (genital exams, cystovaginoscopy, or laparoscopy/laparotomy) helps streamline multidisciplinary care.

Conclusion

Most patients with an ARM undergo extensive colorectal and urologic evaluation in early childhood, involving frequent clinic appointments, multiple modes of imaging, and at least one surgical procedure. This high-volume interaction with the healthcare system presents many opportunities to gather critical information regarding gynecologic structures and to counsel patients and caregivers about long-term gynecologic care and expectations. Through upper and lower Müllerian anatomy identification, the goal is to educate caregivers on reproductive anatomy, optimize surgical decision-making, and prepare the patient and family for puberty and long-term reproductive health care.