To perform a detailed review of the current literature on management of the müllerian system with an understanding of urologic considerations in patients with persistent cloaca. Recent literature has emphasized the co-occurrence of müllerian and urologic anomalies in children with persistent cloaca emphasizing their shared embryologic origins. Review of imaging approaches has emphasized the difficulty in accurately delineating müllerian anatomy pre-pubertally and the importance of follow-up for management of potential sequelae arising pubertally. Important aspects of care are changing such as a shift to using CIC for management of hydrocolpos as well as differing approaches to reconstruction such as timing of vaginal replacement and use of graft materials. However, high-quality literature to guide management of these critical aspects of care are lacking. The müllerian and urologic systems are essential to consider throughout childhood to preserve renal function, maximize reproductive potential and improve quality of life. High-quality studies are needed to guide evidence-based practice.

The Pediatric Colorectal and Pelvic Learning Consortium (PCPLC) is a group of medical providers dedicated to equitably improving the health and quality of life of individuals affected by congenital colorectal disorders and associated urologic, gynecologic, and other anomalies. Using research and medical expertise, the Gynecology Committee within the PCPLC has developed five consensus statements on gynecologic care of patients born with anorectal malformations: Gynecologic Care in Patients with Anorectal Malformations: a Primer and Call to Action, Methods of Gynecologic Evaluation for Patients with Anorectal Malformations, Prepubertal Gynecologic Evaluation and Management of Patients with Anorectal Malformations, Post-pubertal Gynecology Evaluation and Management of Patients with Anorectal Malformations, Long-term Obstetric and Gynecologic Care for Patients with Anorectal Malformations. In this article, we review pubertal trajectory and necessary evaluation of gynecologic structures throughout puberty, as puberty allows for the development of Müllerian structures and can reveal anomalies that can impact menstrual and reproductive function. Gynecologic management in puberty may require anatomic and anticipatory counseling only: however, for many patients gynecologic management may require suppression of menses or operative intervention, all of which will be discussed in detail in this article.

The Pediatric Colorectal and Pelvic Learning Consortium (PCPLC) is a group of medical providers dedicated to equitably improving the health and quality of life of individuals affected by congenital colorectal disorders and associated urologic, gynecologic, and other anomalies. Using research and medical expertise, the Gynecology Committee within the PCPLC has developed five consensus statements on gynecologic care of patients born with anorectal malformations: Gynecologic Care in Patients with Anorectal Malformations: A Primer and Call to Action, Methods of Gynecologic Evaluation for Patients with Anorectal Malformations, Prepubertal Gynecologic Evaluation and Management of Patients with Anorectal Malformations, Post-pubertal Gynecology Evaluation and Management of Patients with Anorectal Malformations, Long-term Obstetric and Gynecologic Care for Patients with Anorectal Malformations. In this article, we will provide an introduction and overview of the subsequent consensus statements while also reviewing the strengths and weaknesses of current research and recommendations for gynecologic care in this population. This article serves as an overview, but also as a call to action for ongoing collaborative clinical care and high-quality research to strengthen care and consensus recommendations going forward.

PURPOSE:Total colonic Hirschsprung disease (TCHD), a severe Hirschsprung disease variant (∼5-10% of cases), is defined by aganglionosis of the entire colon. This study evaluates short-term surgical outcomes and long-term functional results in children with TCHD. METHODS:A cross-sectional retrospective cohort study was conducted on patients with TCHD with at least 4 years of follow-up enrolled at the Pediatric Colorectal and Pelvic Learning Consortium (PCPLC) institutions from 2017 to July 2025. Demographics, surgical details, and functional outcomes-including bowel management, toilet training, and stooling accidents-were collected. RESULTS:Of 75 patients meeting inclusion criteria, 63 underwent a pull-through procedure, with 32 occurring at a PCPLC site; demographics and associated diagnoses did not influence whether patients received pull-through. Among PCPLC patients, the most common procedures were Duhamel (n = 12, 37.5%), Yancey-Soave (n = 8, 25.0%), and Swenson (n = 8, 25.0%), with 59.4% performed laparoscopic-assisted. Four patients required redo pull-through (12.5%), 22 patients (68.8%) had 1 or more additional operations, and 1 (3.1%) had an anastomotic leak. Among non-diverted patients, rates of toilet training ranged from 47.2% at ages 4-7 to 92.9% at 12+ years, although up to 38.5-55.0% of patients continued to have stooling accidents. Common bowel management plans included botulinum toxin injection, fiber, and stool diversion. CONCLUSIONS:Pull-through procedures of patients with TCHD yielded generally favorable early and mid-term outcomes, with most patients achieving toilet training by 8-11 years. However, a subset required re-diversion or redo pull-through, and many continued to experience stooling accidents, highlighting ongoing functional challenges despite specialized colorectal care.

PURPOSE:Unlike colonic atresia, concomitant jejuno-ileal atresia (JIA) and Hirschsprung disease (HSCR) is an under-recognized association. We used a multi-institutional patient registry to describe the incidence, clinical characteristics, management, and outcomes of patients with both conditions. METHODS:We performed a retrospective review of patients with HSCR in the Pediatric Colorectal and Pelvic Learning Consortium (PCPLC) registry. Additional data was collected from participating sites regarding atresia management and outcomes. RESULTS:Of 1459 eligible patients with HSCR, 15 (1.0%) also had JIA. Median age at initial surgical consult and atresia diagnosis was 1 day (IQR 0.5-3.0 and 0.0-3.0, respectively). Median age at HSCR diagnosis was 58.5 days (IQR 16-147.5) compared to a median of 7 days (IQR 3.0-60.0) for patients with HSCR alone. Most patients had ileal atresia (N = 10, 66.7%), and total colonic HSCR (N = 9, 60.0%), although HSCR segment length was not consistently related to atresia location. After primary atresia surgery, 46.7% (N = 7) of patients had a complication within 30 days. At one year, 53.3% (N = 8) of patients required ongoing nutritional support, 55.6% (N = 5) had short bowel syndrome, 80.0% (N = 12) had at least one readmission, and 100% a reoperation. Twelve patients (80.0%) have undergone pull-through. CONCLUSION:Patients with both small intestinal atresia and HSCR demonstrated a higher likelihood of delayed HSCR diagnosis and an increased incidence of total colonic HSCR. A high index of suspicion is critical for timely diagnosis and management of this under-recognized population.

Purpose The Child Opportunity Index (COI) measures the quality of resources available to a child based on their neighborhood. Children with congenital colorectal conditions are often managed at a limited number of specialty centers, and many families travel substantial distances for care. We compared the COI of patients who traveled with those who did not. Methods This retrospective cohort study evaluated patients enrolled in the Pediatric Colorectal and Pelvic Learning Consortium (PCPLC) registry with a valid ZIP code, which was used to determine COI. Travel was defined as living at least 50 miles (straight-line distance) from the PCPLC center where care was received. Groups were compared using Fisher’s exact test and the Cochran-Armitage trend test. Results Of 6258 included patients, 3804 (60.8%) did not travel and 2454 (39.2%) traveled. Patients who traveled were more likely to be from low-COI (21.7% vs 15.8%), moderate-COI (26.9% vs 20.7%), and rural (38.3% vs 9.8%) neighborhoods, whereas those who did not travel were more likely to be from very high-COI neighborhoods (28.2% vs 18.3%) (all p < 0.001). Conclusion Patients who traveled for specialty colorectal care more often resided in low- or moderate-COI and rural neighborhoods. Screening for resource support is essential to avoid healthcare disparities across communities.

PURPOSE:To describe short-term complications following cloaca repair and evaluate their relationship with cloaca complexity. METHODS:A prospective institutional registry of patients evaluated for persistent cloaca from 2020 to 2025 was used to identify patients undergoing primary repair at our institution. Early complications (prior to scheduled examination under anesthesia at 6-12 weeks) were graded by Clavien-Madadi scale to determine complication rate, severity, setting and type. RESULTS:Among 104 patients evaluated, 53 met inclusion criteria, undergoing cloacal reconstruction at median age of 0.7 years (IQR 0.6-1.5). 40% had complex cloaca (common channel ≥3 cm, 21/53) and 55% underwent urogenital separation (29/53). Median operative time was 307 min (ΙQR 206-414). Median length of stay was 4 days (IQR 2-7). Patients with complex cloaca had higher usage of urogenital separation (86%[18/21] v. 34%[11/32], p = 0.001) with longer operative time (445 v. 238 min, p < 0.001) and hospital stays (7 vs 2 days, p = 0.002). 39 complications occurred in 24 patients (45%). Patients with complex and moderate anatomy had similar complication rates (57% v. 38%, p = 0.16). Most complications were ≤Clavien-Madadi 3a (31/39, 79%) and occurred at similar rates in the intra-operative, inpatient and post-discharge settings. Most were related to surgery (34/39, 87%) with 38% of all complications (15/39) involving the genitourinary system (injury, infection or retention). Transfusion was the only complication associated with complex anatomy (33% v. 0%, p = 0.001). CONCLUSION:Early complications occurred in nearly half of patients following cloacal repair. Most events were minor and frequently involved the genitourinary system. These data can inform counseling, management and surgical techniques. IRB APPROVAL:Pro00015991.

INTRODUCTION:We evaluated whether Trisomy 21 (T21) affected bowel management use, ability to toilet train for stool, and rates of Hirschsprung-Associated Enterocolitis (HAEC) in children with Hirschsprung disease (HD). We hypothesized that T21 would be associated with increased rates of HAEC, bowel management program (BMP) use, and delayed toilet training for stool. METHODS:Children with HD in the Pediatric Colorectal and Pelvic Learning Consortium (PCPLC) database who underwent primary pull-through were included and stratified by T21 status: HD only versus HD + T21. Children requiring a redo pull-through, initially managed with a stoma, or those who had inadequate follow-up were excluded. HAEC episodes, toilet-training status, and BMP data recorded during individual PCPLC sites' clinical visits were analyzed. RESULTS:339 children with HD and 48 with HD + T21 were included. No significant differences in patient demographics, age at diagnosis, transition zone, age/weight at pull-through, type of pull-through, or child opportunity index (COI) were identified. No significant differences in BMP or number of HAEC episodes were found. Children with HD + T21 were less likely to be toilet trained at their 4-7-year visit (22.2% vs. 52.6%, p = 0.002) and their 8-11-year visit (22.2% vs. 80.9%, p < 0.001). On multivariable regression, T21 independently predicted lower odds of toilet training for stool at age 4-7 years. CONCLUSIONS:Children with HD and T21 have delayed toilet training but have similar bowel management needs and HAEC rates to children with HD only, suggesting that differences in continence outcomes are not explained by increased enterocolitis burden or greater bowel management intensity. LEVEL OF EVIDENCE:Level 3 - Retrospective Comparative Study.

The Pediatric Colorectal and Pelvic Learning Consortium (PCPLC) is a group of medical providers dedicated to equitably improving the health and quality of life of individuals affected by congenital colorectal disorders and associated urologic, gynecologic, and other anomalies. Using research and medical expertise, the Gynecology Committee within the PCPLC has developed five consensus statements on gynecologic care of patients born with anorectal malformations: Gynecologic Care in Patients with Anorectal Malformations: A Primer and Call to Action, Methods of Gynecologic Evaluation for Patients with Anorectal Malformations, Prepubertal Gynecologic Evaluation and Management of Patients with Anorectal Malformations, Post-pubertal Gynecology Evaluation and Management of Patients with Anorectal Malformations, Long-term Obstetric and Gynecologic Care for Patients with Anorectal Malformations. In this article, we review the clinical, radiologic, and surgical methods used in the evaluation of the gynecologic system. The goal of this manuscript is to equip providers with technical tips and tricks for evaluating the gynecologic system. We will cover basic and advanced methods of gynecologic evaluation as well as options for evaluation in high versus low resource settings to increase accessibility of gynecologic evaluation for all patients.

INTRODUCTION:There is no consensus for the optimal surgical approach for total colonic Hirschsprung disease (TCHD) and few studies report functional outcomes for the ileoanal Swenson pull-through (IAPT). METHODS:A single-center retrospective review identified patients with TCHD who underwent IAPT between 1/2020 and12/2023. Complications and functional outcomes were reviewed descriptively. RESULTS:25 patients (64 % male) underwent IAPT at a median age of 1.6 years (range 0.6, - 15.6; IQR, 0.9-7.0) with a median follow-up of 16 months (range, 1-39; IQR, 3-26). Four patients required readmission within 30 days and 8 within 1 year. One patient required readmission for Hirschsprung's associated enterocolitis (HAEC) within 30 days and Four within 1 year. One patient had an unplanned return to the operating room. At 1 month, 48 % (12/25) reported ≥14 stools/day and 20 % (5/25) had 1-7 stools/day. Among patients with at least 1 year follow up only 14 % (2/14) reported ≥14 stools/day and 57 % (8/14) reported 1-7 stools/day. At 1 month, 48 % (12/25) reported severe or active perianal excoriation; by 1 year, no patients reported severe or active perianal excoriation. One patient underwent elective ileostomy creation due to a high stooling frequency. Overall, 64 % (16/25) underwent anal botulinum toxin injection for withholding, 16 % (4/25) required treatment for small intestinal bacterial overgrowth, and 12 % (3/25) required treatment for proctalgia fugax. CONCLUSION:Patients with TCHD who undergo IAPT have low perioperative complication rates, and most achieve manageable stooling patterns without severe or active perianal excoriations by at least 1 year after IAPT. Approximately two-thirds of patients may require botulinum toxin treatment for non-relaxing sphincters. IRB APPROVAL:STUDY00000962. STUDY TYPE:Single institution. LEVEL OF EVIDENCE:IV.

INTRODUCTION:Persistent cloaca occurs in approximately 1 in 25,000 live births. Among patients with cloaca, the absence of a vaginal connection to the common channel represents a rare phenotype with distinct anatomic and management considerations. We describe the urologic, gynecologic, and surgical characteristics of this patient subset. METHODS:We performed a retrospective analysis of a single-institution cohort of patients with persistent cloaca managed at a quaternary-care children's hospital between 2019 and 2025. Patients were eligible if they underwent primary cloacal repair by our multidisciplinary team and met all three diagnostic criteria for absent vaginal-common channel fistula: no hydrocolpos on imaging, no identified vaginal opening on cystoscopy or cloacagram, and no visible lumen between müllerian and cloacal structures identified intraoperatively. RESULTS:Of 51 patients who underwent primary repair, 6 (12%) met criteria for absent vaginal-common channel fistula. All met criteria for VACTEGRLS association. Common channel length ranged from 1.1 to 7.0 cm and urethral length from 0.5 to 2.2 cm. Urologic anomalies were nearly universal: five patients (83%) had a solitary functional kidney and four (67%) had vesicoureteral reflux. All underwent posterior sagittal anorectoplasty (PSARP) for rectal repair with the common channel repurposed as the neourethra. Five (83%) underwent diagnostic laparoscopy during which the müllerian structures were examined but left in situ. At last follow-up (median 17.5 months, range 4-35 months), three patients (50%) had volitional voiding and three (50%) required assisted bladder emptying via vesicostomy or Mitrofanoff. CONCLUSION:Persistent cloaca without a vaginal-common channel fistula represents a rare but clinically distinct phenotype characterized by severe urologic anomalies. Recognition of this phenotype is essential for surgical planning and long-term urologic and gynecologic surveillance. Because there was no connection between the vagina and the urinary tract, delaying management of the müllerian structures did not adversely affect the urinary tract.

The Pediatric Colorectal and Pelvic Learning Consortium (PCPLC) is a group of medical providers dedicated to equitably improving the health and quality of life of individuals affected by congenital colorectal disorders and associated urologic, gynecologic (GYN), and other anomalies. Using research and medical expertise, the Gynecology Committee within the PCPLC has developed five consensus statements on gynecologic care of patients born with anorectal malformations: Gynecologic Care in Patients with Anorectal Malformations: A Primer and Call to Action, Methods of Gynecologic Evaluation for Patients with Anorectal Malformations, Prepubertal Gynecologic Evaluation and Management of Patients with Anorectal Malformations, Post-pubertal Gynecology Evaluation and Management of Patients with Anorectal Malformations, and Long-term Obstetric and Gynecologic Care for Patients with Anorectal Malformations. In this article, we discuss considerations for long-term gynecologic care including preventive screening, fertility and sexual function as patients transition care from the pediatric to the adult setting. Recommendations for GYN care are based on patient-specific anatomy as well as desires for fertility potential and sexual function. Patient autonomy and shared patient-provider decision-making are the cornerstone of long-term GYN care in this population.

PURPOSE OF REVIEW:To synthesize current practice patterns, expert consensus, and evidence-informed recommendations for the evaluation and management of patients with anorectal malformations (ARMs). RECENT FINDINGS:Adoption of standardized, anatomy-based classification systems has improved consistency in reporting and enabled more robust multiinstitutional research. Increasing centralization of care within multidisciplinary colorectal centers has enhanced coordinated evaluation across multiple surgical subspecialties. Early, comprehensive screening for associated anomalies - particularly renal, spinal, and Müllerian abnormalities - remains critical, though gaps in detection persist. Initial management strategies emphasize ensuring effective bowel decompression through dilation, diversion, or selective primary repair. Surgical management continues to evolve, with growing evidence supporting selective single-stage repair in low malformations and utilization of emerging techniques aimed at minimizing morbidity while preserving function. Contemporary data highlights the importance of risk-stratified, longitudinal urologic surveillance given the high prevalence of renal and bladder dysfunction, particularly in patients with high fistula insertion or persistent cloaca, upper urinary tract anomalies and/or clinically significant spinal dysraphism. SUMMARY:Optimal neonatal management of ARM includes comprehensive screening for associated anomalies, early multidisciplinary involvement, and individualized decision-making regarding timing and approach to repair, ideally within experienced, high-volume centers.

Objective:The posterior rectal advancement anoplasty (PRAA) is a novel approach for females with rectoperineal fistulas in which the distal fistula tract lies within the anterior limit of the anal sphincter complex. PRAA eliminates the risk of vaginal injury and perineal body dehiscence while allowing for an appropriately sized and centered anal opening. This study aims to examine the complications and outcomes following PRAA. Methods:A retrospective, single-institution study was performed of female patients with an anorectal malformation with a rectoperineal fistula between January 2020 and December 2023. PRAA was performed when the rectoperineal fistula was located within the anterior extent of the anal sphincteric ellipse. We assessed time to first feeding, length of stay, and early stooling patterns and complications. Results:Twelve patients underwent PRAA at a median age of 171 days with a median follow-up of 5 months. None were previously diverted with an ostomy. There was no incidence of vaginal injury, wound dehiscence, rectal prolapse, or anal stricture. All were able to resume feeds immediately and were discharged home on postoperative day 1. On follow-up, all patients were stooling spontaneously, and nine (75%) were utilizing daily laxatives. Conclusion:The PRAA, specifically in female patients with rectoperineal fistula within the anterior limit of the sphincters, eliminates the risk of vaginal injury and perineal body dehiscence. This technique decreases the risk of rectal prolapse and anal stricture and allows patients to return to their regular diet and home quickly, after only 1 postoperative day. It can be done without the need for a colostomy. Longer-term data are needed to continue to explore functional outcomes.

Patient-reported outcomes have become an important metric for assessing quality of life and long-term clinical status. The Pediatric Colorectal and Pelvic Learning Consortium (PCPLC) evaluates the quality of life of patients with congenital colorectal diagnoses through the PCPLC Patient (and Parent) Reported Outcome Measures (PROMs) study. We sought to identify how socioeconomic disparities affect the enrollment rates of our patient population in the PROMs study. A multicenter, retrospective study of children evaluated at sites participating in the PCPLC PROMs study was performed. We evaluated associations of the participants’ demographic information with screening, enrollment, and consent for the PROMs study. Of the 3505 participants enrolled in the PCPLC, 724 patients were eligible for the study. Demographics and enrollment practices varied by site. Hispanic ethnicity (p = 0.015) and public insurance (p = 0.013) were independently associated with lower enrollment, stratifying by site. Race was not independently associated with enrollment. These results suggest that enrollment of participants into the PROMs study may be preferential for certain demographic groups, regardless of PCPLC site location and independent of demographic composition at each site. Further investigation is needed to develop strategies to ensure equitable screening and enrollment.

INTRODUCTION:Concurrence of Hirschsprung disease (HD) and anorectal malformation (ARM) is rare, but early diagnosis is important for proper management. The aim of this study was to define the expected histological findings of rectal fistulae in ARM and to identify findings that may raise suspicion for concurrent HD. METHODS:Eighty-six patients with ARM from a single institution were studied. Pathology reports as well as randomly selected fistula specimens were evaluated for the presence of ganglion cells at a single institution. An additional query of the Pediatric Colorectal and Pelvic Learning Consortium database was performed to examine clinical features of patients with HD and ARM. RESULTS:Patients represented the spectrum of ARM, with perineal fistula being the most common. Ganglion cells were present in 78 of 86 (91%) specimens, hypoganglionosis in 5 of 86 specimens (6%), and absent in 3 of 86 (4%) specimens. Of the patients with absence of ganglion cells in their fistula specimens, 2 of 3 (66%) also carried a diagnosis of Trisomy 21. Within the Pediatric Colorectal and Pelvic Learning Consortium database, we identified 12 patients with both ARM and HD out of 1726 ARM subjects (0.7% of ARM patients). Among this group of patients, 33% (n = 4) had chromosomal anomalies. CONCLUSIONS:The majority of fistula specimens from patients with ARMs contain ganglion cells. Absence of ganglion cells in patients with ARM should prompt suspicion for HD. This association may be more common in patients with chromosomal anomalies.