A Rocky Road: Bladder Stones in the Augmented Exstrophy-Epispadias Complex Patient.

OBJECTIVE: To determine the rate of stone formation amongst patients of the exstrophy-epispadias complex with augmentation cystoplasty. We hypothesize that bowel segment choice influences the rate of stone formation after bladder augmentation and the rate of complications from bladder stone surgery. METHODS: An IRB-approved institutional database of 1512 exstrophy-epispadias patients was reviewed retrospectively. Patients that had a history of bladder augmentation and were seen at our institution between 2003 and 2023 were included. RESULTS: Out of 259 patients, bladder stones developed in 21.6% (56), of which the bowel segment used was colon in 147 patients and ileum in 100. Stones formed in 19% of colon augments compared to 29% ileal augments, however, this was not statistically significant (P = .07). The most common primary stone component was dahllite, followed by struvite for all augments (Table 1). The median time to stone treatment after augmentation was 4.14 years (0.75-31). Seventy-four percentage of patients had a recurrence that required a second surgery. The median time from first to second surgery and second to third surgery was 1.4 years and 2.22 years, respectively. Bladder stone surgery complications occurred in 14% of patients, vesicocutaneous fistula being the most common, and complications did not differ by augment type. Median follow-up after first stone intervention was 6.07 years (0-19.5). CONCLUSION: The treatment of bladder stones in the exstrophy-epispadias complex remains challenging. Interventions to prevent recurrence are crucial as the majority of patients will require 2 or more stone surgeries in their lifetime.

New classification of the penoscrotal positional anomalies.

BACKGROUND: The aspect of sexual differentiation and the mechanism controlling the position of genitalia, which represents one of the most substantial differences between the sexes, is still poorly understood. Minor cases and some variants of penoscrotal transposition (PST) are unreported, and obvious cases were classified broadly and confused with other unrelated anomalies. METHODOLOGY: Relevant literature published till 2022 were reviewed then organized, recapitulated, and presented in comparison with the findings and data of 65 child diagnosed with PST. So, an integrated comprehensive approach to this uncommon condition enabled a new classification including few unreported variant cases, which were complemented. RESULTS: PST is classified herein into a cephalic or caudal scrotal migration, the cephalic type subdivided into major and minor subtypes the latter type subdivided into bilateral, unilateral or central subtypes. Cases of caudal scrotal regression is an unreported anomaly in which the scrotum located caudally, as constant association with epispadias/exstrophy anomalies leaving a wide distance between the fixed penis and the scrotal sacs. CONCLUSION: PST is not rare as it was believed, it occurs in two directions; cephalic and caudal directions. Scrotal caudal regression anomaly was not described before, as well the PST presented as an inguinal hernia.

A Child With Diphallia, Duplicate Bladder, Bladder Exstrophy, and Anorectal Malformation.

Congenital true diphallia, complete duplicate bladder, bladder exstrophy, and anorectal malformation in a child are uncommon. Here, we present the case of a 3-year-old boy with multiple genitourinary malformation, including true diphallia, complete duplicate bladder, bladder exstrophy, epispadias, and anorectal malformation. Multi-departmental collaborative treatment for complex conditions ultimately achieved an ideal appearance for this patient. All vital signs were stable after the surgery and they remained consistent during follow-up. In such cases, surgical correction is individualized to achieve adequate urinary continence and erection with adequate esthetics.

Radiographic calibration for pubic diastasis assessment in bladder exstrophy-epispadias complex: a phantom study.

BACKGROUND: The assessment of pubic diastasis is important for the surgical planning of patients with bladder exstrophy-epispadias complex. Understanding how the diastasis changes during surgical follow-up may help predict patient morbidity. Radiography can follow diastasis but may be affected by patient and technical imaging factors including body size, imaging protocol, and equipment. Using imaging calibration and anatomic ratios may mitigate differences due to these aspects. OBJECTIVE: Use imaging phantoms to assess the effect of radiographic calibration on measurements of pubic diastasis and an internal anatomic ratio as a child grows. MATERIALS AND METHODS: Radiographic images were obtained of three different sizes of computed tomography phantoms (older child, child, and infant) using three imaging techniques that include the osseous pelvis in children. All phantoms were imaged with abdomen and pelvis techniques. The infant phantom was additionally imaged using a thoracoabdominal technique. These exposures were all repeated with systems from three manufacturers. Linear measurements were made between radiographic markers placed to simulate pubic diastasis and sacral width. A ratio was also created between these distances. Measurements with and without image calibration were made by two pediatric radiologists using rulers placed at the time of image acquisition. RESULTS: There was excellent interrater agreement for measurements, ICC >0.99. Anterior distances were more affected by magnification than posterior ones with a significant difference between uncalibrated versus calibrated anterior distances (p=0.04) and not for posterior ones (p=0.65). There was no difference between radiographic equipment manufacturers without or with calibration (p values 0.66 to 0.99). There was a significant difference in simulated pubic distance between thoracoabdominal and abdomen (p=0.04) as well as pelvic (p=0.04) techniques which resolved with calibration, each p=0.6. The ratio between the simulated pubic diastasis and sacral width differed by phantom size (all p<0.01) and imaging technique (p values 0.01 to 0.03) with or without calibration. However, the numerical differences may not be clinically significant. CONCLUSION: Image calibration results in more uniform measurements that are more accurate than uncalibrated ones across patient size, imaging techniques, and equipment. Image calibration is necessary for accurate measurement of inter-pubic distances on all projection imaging. Small differences in the pelvic ratio likely are not clinically significant, but until there is a better understanding, image calibration may be prudent.

Redo surgery to improve urinary function, sexual function and cosmesis in male patients with exstrophy-epispadias complex complications. Technical principles and pearls based on case scenarios.

The bladder exstrophy-epispadias complex includes some of the most challenging conditions treated by pediatric urologists. They are associated with the need for multiple intricate reconstructive procedures, aimed at restoring the anatomy and function of the bladder, urethra and external genitalia. These patients often endure multiple redo reconstructive procedures to improve urinary function, sexual function and cosmesis throughout the first two decades of life. In this article, we present the 30-year experience of a single surgeon performing redo surgery for males born with epispadias and bladder exstrophy. Through detailed documentation of 6 clinical cases, we highlight technical aspects that may contribute to a successful surgical reconstruction in these patients. The article is focused specifically on patients undergoing redo epispadias repair with or without concomitant continence procedures. We make the case for complete penile disassembly with external rotation of the corpora to correct recurrent dorsal curvature; this approach also allows the surgeon to have access to the proximal urethra and bladder neck after opening the intersymphiseal scar/band. This is useful when additional procedures on the bladder, such as bladder neck tailoring, are necessary. We also highlight the importance of avoiding reverse Byars' flaps when performing skin closure, due to the resulting midline scar. Besides being associated with a poor cosmetic outcome, it can also contribute to recurrent dorsal curvature. The authors advocate for rotational skin flaps to cover the penile shaft. Correction of dorsal curvature and improved cosmesis obtained with complete penile disassembly sometimes comes at the expense of the urethra being left as a hypospadias (figure). This will require further surgeries (usually a 2-stage buccal mucosa graft), much like the treatment of proximal hypospadias. Redo epispadias surgery in males remains a challenge. The systematic approach offered by the case scenarios may help guide surgeons dealing with this difficult condition. Patient with complications after repair of classic bladder exstrophy. A) Stone retrieved from posterior urethra after complete penile disassembly. B) After opening the inter-symphiseal scar, the bladder has been opened and the bladder neck tailored. C) Complete penile disassembly has been completed with corporal bodies and urethra individualized. D,E,F) Final appearance of the repair; abdominal wall was closed with anterior rectus sheath flaps, penile skin was closed with rotational flaps and urethra ended up as a hypospadias.

BEEC psychosocial screening at Royal Manchester Children's Hospital.

INTRODUCTION: Bladder Exstrophy and Epispadias Complex (BEEC) is associated with psychosocial difficulties. Screening questionnaires, alongside consultation with a clinical psychologist, can help identify children/young people for further assessment and track trends over time to improve service delivery. OBJECTIVE: To screen paediatric BEEC patients for a range of general psychosocial difficulties in a multi-disciplinary out-patient clinic setting and compare these results with our previous study and against published norms. STUDY DESIGN: The current service evaluation collected data at outpatient BEEC clinic appointments between 2016 and 2022 (2016-2022 sample). Children aged 4-5, 10-11 and 14-15 years and their parents/proxy were asked to complete two standardised psychosocial questionnaires: Paediatric Quality of Life Inventory (PedsQL 4.0 Generic Core and Family Impact Module) and the Strengths and Difficulties Questionnaires (SDQ). 79 children (CYP) and 93 parent/proxy (P/P) responses were recorded. The sample included paired CYP and P/P responses for the PedsQL (n = 67) and SDQ (n = 35). The mean age for CYP was 9.9 years (SD 3.99, range 2-17), 69.8% (n = 120) of responses for male children. RESULTS: The percentage of total CYP scores falling within the 'At Risk' category on the PedsQL increased in the 2016-2022 sample compared to our 2015 sample, indicating the prevalence of greater difficulties. Differences between P/P and CYP responses on both the PedsQL and SDQ favoured CYP. Age, gender, and diagnosis appeared to influence certain questionnaire responses, depending on respondent (CYP or P/P). A significant difference between P/P and CYP in the emotional domain of the PedsQL for those aged 13-18 was observed (p = 0.020), with P/P reporting greater difficulties, but this was not seen in the younger age ranges. Physical Health on the PedsQL were significantly lower for children with a cloacal exstrophy diagnosis, in comparison to bladder exstrophy and epispadias. P/P SDQ scores for boys were significantly higher in several domains. CONCLUSIONS: The results demonstrate the need for psychosocial screening, providing benchmarking for psychosocial difficulties within this patient group. Results indicate that patients accessing our clinic are reporting a higher level of challenge across psychosocial domains in recent years reflected by the percentage within the 'At Risk' category for psychosocial difficulty. Linked questionnaire data with condition specific information and surgical history would improve service evaluations. CYP reaching clinical thresholds are offered further psychological assessment within the service.

Ileo-caecal doughnut bladder augmentation in children with exstrophy- epispadias complex- a study of 100 cases.

AIM: The small bladder in failed exstrophy needs to be augmented and also accommodate bladder neck surgery, ureteric re-implantations and a catheterizable channel. We present a novel method of ileocecal bladder augmentation providing a non-implanted, un-detached appendicular channel, rendered non refluxing by an ileal "fundoplication". The colonic segment could receive ureteric reimplantation when bladder plate is unsuitable. MATERIALS AND METHODS: Operative technique: Bilateral cephalo-trigonal reimplantation and bladder neck surgery is done. The ileocecal segment is isolated and arranged as a ring (doughnut) around the un-detached appendix which is made to pass behind the terminal ileum, through the ileal mesentery and then in front of the ileum as it exits as a catheterizable channel. The bowel segment is opened on the antimesenteric aspect except for the retro appendiceal ileal segment. The opened ileo-caecum is reconfigured as a de-tubularised augmentation pouch while the retro appendiceal ileal segment is wrapped around the appendix like a fundoplication. The colon segment may receive the ureteric reimplantation if required. CASE MATERIAL: 100 children (mean age 6.3 years) with failed exstrophy underwent doughnut augmentation (3 neobladders) in 2006-2021. Ninety eight were incontinent, with 30 open/dehisced bladder plate, 48 units were hydronephrotic (HUN), 105 ureters were refluxing (VUR) and eGFR was subnormal in 20 children. 79 children underwent YDL bladder neck plasty and 23 underwent bladder neck closure (primarily in 18). Three infants with HUN did not undergo bladder neck surgery. 126 ureters were reimplanted into the bladder, 44 into the colon segment while 30 were not reimplanted. RESULTS: 95 children are continent on CIC, which was gradually introduced starting with once or twice daily change of indwelling Mitrofanoff catheter leading to regular 3-4 hourly CIC as the child became confident. The appendicular channel was easily catheterizable without any leak in 95, had minor issues in 4 while one necrosed and replaced by a gastric tube. HUN recovered (25/48) or stabilized with a significant reduction in the grade of hydronephrosis (p = 0.001). VUR resolved in 90% of bladder reimplants, 85% of colonic reimplants and 70% of non-reimplanted ureters. In the 20 children with compromised renal function eGFR improved (71-106 ml/m2/min) significantly (p = 0.036) at follow up (mean 5 years). Urodynamics study (N = 33) showed a mean capacity of 95% of expected bladder capacity (EBC) with end filling pressure less than 25 cm of water (Mean end filling cystometric pressure = 15 cm of water). Complications included adhesive intestinal obstruction (N = 16) and bladder calculi (N = 12). CONCLUSION: The doughnut ileocecal augmentation provides a easily catheterizable, non-refluxing, appendicular channel, not requiring isolation of the appendix nor its reimplantation into the bladder. The colonic segment can provide a bed for ureteric reimplantation. Dryness with a good capacity bladder and preserved upper tract is achieved.

Bladder exstrophy-epispadias complex: The effect of urotherapy on incontinence.

INTRODUCTION: Achieving urinary continence is a key goal in children born with the bladder exstrophy-epispadias complex (BEEC). Unfortunately, this goal is only moderately achieved despite sometimes extensive surgical treatment. Undergoing repeated hospitalization and operations may consequently have a negative impact on quality of life. We therefore believe that other, conservative treatment options should be explored in an earlier stage of incontinence treatment in BEEC patients. As part of this, an intensive urotherapy program based on was offered to patients with persistent incontinence after reconstructive surgery for BEEC. OBJECTIVE: The aim of this study is to evaluate the benefits of intensive urotherapy on incontinence after reconstructive surgery in children with BEEC. STUDY DESIGN: A retrospective chart study was performed including all children who were enrolled in an intensive urotherapy program because of persistent incontinence after reconstructive surgery for BEEC. Urotherapy consisted of a ten-day inpatient training program based on cognitive behavioral therapy, with intensive follow-up by experienced urotherapists. Main outcome measurement was continence, expressed as the percentage of children that achieved complete continence (good result; 100% dry) or 50-99% decrease of wet days a week (improved result) after treatment. RESULTS: Data of 33 patients with a mean age of 10.6 years were analyzed. In 61% of cases (20/33) an improved or good result was reported on incontinence after urotherapy. Children with classic bladder exstrophy more often achieved a good or improved result (13/16; 81%), compared to children with epispadias (6/16; 38%). The only patient with a cloacal exstrophy completed treatment with an improved result. From the group of patients with persistent incontinence, 75% (12/16) reported that the complaints were socially acceptable at the end of follow-up. DISCUSSION: By following our intensive urotherapy program the majority of patients achieved complete continence or improved incontinence. In addition, our results show that the inpatient training program has a positive impact on acceptance in cases of persistent incontinence. The urotherapists offer individualized care and clear guidance, which we deem essential elements of successful treatment. Considering that repeated surgery may impede progress and offers no guarantee of continence, we recommend giving preference to conservative treatment options. CONCLUSION: Our results show that 37% (12/33) of patients with BEEC who were enrolled in our intensive urotherapy program because of persistent incontinence after reconstructive surgery, achieved complete continence after urotherapy and 63% (21/33) still experienced some degree of incontinence. 75% of patients who did not achieve complete continence, described the remaining incontinence as socially acceptable. These findings strongly support counselling patients with BEEC to consider conservative treatment before opting for further surgery.

Bilateral Obturator Osteotomy: A Novel Osteotomy for Bladder Exstrophy Closure.

BACKGROUND: Abdominal and pelvic closure remains a challenge during bladder exstrophy initial repair. We aimed to report on the feasibility and results of a novel technique of bilateral obturator osteotomy. METHODS: Retrospective study of prospective collected data of children who underwent single-stage delayed bladder exstrophy closure combined with RSTM (Radical Soft Tissue Mobilization) for BEEC (Bladder Exstrophy Epispadias Complex) by the same team at different institutions between December 2017 and May 2021. When pubic approximation was not feasible at the end of the procedure, bilateral obturator osteotomy was performed through the same approach, consisting in bilateral divisions of the ilio-pubic rami, ischio-pubic rami, obturator membrane, and detachment of the internal obturator muscle. Pubic bone fragments were approximated together on the midline. Immobilization in a thermoformed posterior splint was indicated for 3 weeks. The main outcome criterion was the bladder dehiscence rate at 6 months, assessed by physical inspection. Secondary outcome criteria included neurovascular obturator pedicle injury, analyzed during orthopedic physical examination, wound or bone infections, gait acquisition, reported by parents and evaluated during medical examination, and vascular penile impairment, judged by penile and glans coloration. RESULTS: 17 children (11 males, 6 females) were included, at a median age of 2 months [1-33]; and representing 29% (17/58) of the children with bladder exstrophy who underwent the same surgical approach during the time of study. There was no postoperative bladder dehiscence with a median follow-up of 34 months [6-47]. No complication was observed. Pelvic X-rays showed bilateral normal ossification process. Neither gait abnormality, nor clinical indication of obturator nerve deficiency was observed during follow-up. CONCLUSION: When pubic bones approximation is not possible, bilateral obturator osteotomy is a useful adjunct in bladder exstrophy closure, feasible by the pediatric urologist through the same approach, and not requiring external fixator. LEVEL OF EVIDENCE: IV.

Male epispadias repair: Outcomes at three sites prior to the establishment of a multi-institutional collaboration.

INTRODUCTION: Epispadias, which occurs on the more mild end of the Bladder Exstrophy Epispadias Complex (BEEC) spectrum, presents still with a wide range of severity in boys, from mild glanular epispadias to penopubic epispadias with severe urethral and bladder neck defects. Surgical management ranges from isolated epispadias repair to epispadias repair with bladder neck reconstruction (BNR) with or without pelvic osteotomies. OBJECTIVES: We aimed to evaluate outcomes in epispadias treated at three institutions prior to formation of a formal collaboration. In addition, we sought to delineate outcomes based on anatomic severity at time of diagnosis, and initial procedure performed in cases of penopubic epispadias. METHODS: IRB approved databases were retrospectively queried at three institutions for patients who underwent repair of epispadias between 1/1993 and 1/2013. Degree of epispadias, age and technique at initial repair, and self-reported continence status at last follow-up were recorded. Continence was categorized as: wet, intermediate (dry 2-3 h), or dry, while also distinguishing those who void and those who require clean intermittent catheterization (CIC). Those not seen since 1/1/2015, younger than 10 years at last follow up, or in whom continence data were not recorded were excluded. RESULTS: A total of 48 boys were identified; 36 met inclusion criteria. The epispadias cohort consisted of 8 glanular epispadias (GE) (22%); 8 penile epispadias (PE) (22%), and 20 penopubic epispadias (PPE) (56%) with a median follow-up of 11.3 years (3.2-26.2 years). Overall, 33 of 36 (92%) boys void per urethra. Within the group that voids, 19/33 (58%) are completely dry, while 6/33 (18%) are wet. Among patients who underwent initial epispadias repair without concurrent or subsequent bladder neck reconstruction, continence rates were: GE 63% (5/8); PE 75% (6/8); PPE 71% (5/7). Among the 9 boys with PPE who underwent initial epispadias repair with concurrent BNR, 22% (2/9) were dry with no further surgeries. Overall, 8/20 (40%) of boys with PPE void with complete dryness. DISCUSSION: This multi-center retrospective review of continence in epispadias demonstrates that even some boys with glanular and penile epispadias can have challenges with continence, and boys with penopubic epispadias may remain wet despite careful preoperative assessment of bladder neck functionality and concurrent BNR. CONCLUSION: Continence outcomes in boys with all degrees of epispadias can be variable. Even boys with more distal defects may have significant bladder neck deficiency. And those with the most severe form of epispadias may require bladder neck reconstruction to achieve continence.

The true pelvic volume change with various corrective osteotomy techniques for exstrophy-epispadias complex spectrum: the value of computer-assisted virtual surgery.

Pelvic osteotomies are essential to approximate widened symphysis pubis in the exstrophy-epispadias complex, yet it is unknown which osteotomy type has the greatest effect on pelvic volume. We therefore used virtual surgery to study pelvic volume change with anterior, oblique, and posterior iliac osteotomies. Preoperative CT scans of two cloacal and one classic bladder exstrophy patients were used. Simulations were free-hand or constrained to keep minimal strain in the sacrospinous SSL and sacrotuberous STL ligaments. Changes in inter-pubic distance, pelvic volume, SSL and STL strains were measured. Mean pelvic volume decreased by 10% with free hand compared to 23% with constrained simulations ( P  = 0.171) and decreased by 7% with posterior, 17% with diagonal and 26% with horizontal osteotomies ( P  = 0.193). SSL and STL were strained by 20% and 26%, respectively, with free-hand simulations. A statistically significant moderate positive correlation was found between the decrease in inter-pubic distance and reduction in pelvic volume (r = 0.6, P  = 0.004). Mean pelvic volume decreased 0.05, 0.37 and 0.62% for each mm of pubic symphysis approximation with posterior, diagonal and horizontal osteotomies, respectively. Differences in effect on pelvic volume were identified between the osteotomies using virtual surgery which predicted residual diastasis in actual cloacal exstrophy surgical reconstructions. Oblique osteotomies are a compromise, avoiding difficulties with posterior osteotomies and excessive pelvic volume reduction with horizontal osteotomies. Understanding how osteotomy type affects pelvic morphology with virtual surgery may be an effective adjunct to pre-operative planning in exstrophy spectrum.

Bladder Neck Surgery is not Routinely Needed to Achieve Urinary Continence in Patients with Primary Epispadias.

BACKGROUND: This study aims at investigating the continence outcome in primary epispadias patients treated at a tertiary center. The authors hypothesized that additional continence procedures following primary epispadias repair is not routinely needed. METHODS: Patients treated for primary epispadias at the authors' institution between 2007 and 2019 and toilet trained, were identified from a prospective maintained database. Males underwent chordee correction, urethroplasty and glanuloplasty. Females underwent genitoplasty with reduction urethroplasty. If continence was not achieved by 4-5 years of age, pelvic floor muscle (PFM) biofeedback therapy was performed. Other continent procedures were discussed with family/patient if still incontinent. PRIMARY OUTCOME: urinary continence. SECONDARY OUTCOMES: PFM biofeedback therapy, continence surgery, hydronephrosis. Type of epispadias, age at repair and follow-up presented as median was also reported. RESULTS: Thirty-three patients (29 males) were included. Twelve had penopubic epispadias, 13 glanular/penile, 4 duplicated urethra, 4 females. Median age at repair: 2 years (IQR 1-3), at follow-up: 8 years (IQR 6-10). Daytime continence: 100 % in penile/glanular; 33 % in penopubic and 75 % in duplicated urethra. Nighttime continence: respectively 92 %, 50 % and 100 %. 24 % of males were intermittently incontinent. All patients except one voided urethrally. One patient underwent bladder neck closure, ileocystoplasty and Mitrofanoff. One girl achieved daytime continence, 2 were intermittently incontinent, one continuously incontinent. All were enuretic. 38 % of boys and 100 % of girls had biofeedback therapy. None had hydronephrosis/renal impairment. CONCLUSIONS: Most children with primary epispadias can achieve social urinary continence spontaneously or with the support of PFM biofeedback therapy. Other continence procedures should be reserved for patients who do not attain satisfactory continence. LEVEL OF EVIDENCE: Treatment study - level IV.

["Epidemiology, diagnosis, treatment and follow-up of the bladder exstrophy-epispadias complex"]. / "The making of " ­ die neue S3-Leitlinie "Epidemiologie, Diagnostik, Therapie und Nachsorge des Blasenekstrophie-Epispadie Komplexes".

The development of the new S3 guideline "Epidemiology, diagnosis, treatment and follow-up of the bladder exstrophy-epispadias complex" was funded by the German Innovation Fund of the Federal Joint Committee (G-BA). Despite the relatively low level of evidence of the identified literature, a systematic approach and consistent evaluation of the literature enabled the formulation of a large number of evidence-based recommendations across a variety of topics. In addition, a patient guideline is under development in order to disseminate the guideline recommendations and to enhance self-management and understanding among patients and their relatives. A needs analysis had been carried out in order to adequately assess the topics that are most important for patients and relatives. Upon completion of the German guideline, an English translation in cooperation with the e­UROGEN network is planned.

Ensuring our exstrophy-epispadias complex patients and families thrive.

Individuals with bladder exstrophy-epispadias complex (EEC) need long-term integrated medical/surgical and psychosocial care. These individuals are at risk for medical and surgical complications and experience social and psychological obstacles related to their genitourinary anomaly. This care needs to be accessible, comprehensive, and coordinated. Multiple surgical interventions, reoccurring hospitalizations, urinary and fecal incontinence, extensive treatment regimens for continent diversions, genital differences, and sexual health implications affect the quality of life for the EEC patient. Interventions must include psychosocial support, medical literacy initiatives, behavioral health services, school and educational consultation, peer-to-peer opportunities, referrals to disease-specific camps, mitigation of adverse childhood events (ACEs), formal transition of care to adult providers, family and teen advisory opportunities, and clinical care coordination. The priority of long-term kidney health will necessitate strong collaboration among urology and nephrology teams. Given the rarity of these conditions, multi-center and global efforts are paramount in the trajectory of improving care for the EEC population. To achieve the highest standards of care and ensure that individuals with EEC can thrive in their environment, multidisciplinary and integrated medical/surgical and psychosocial services are imperative.

Long-Term Management of Problems in Cloacal Exstrophy: A Single-Institution Review.

INTRODUCTION: Cloacal exstrophy (CE) is the most severe malformation of the exstrophy-epispadias complex. This study aims to discuss long-term sequela in a single major institution with a high volume of CE patients. MATERIALS AND METHODS: A prospectively maintained database of 1490 patients on the exstrophy epispadias spectrum (145 cloacal exstrophy) from 1974 to 2023. The patient database was reviewed for CE patients >10 years of age for genitourinary, gastrointestinal, orthopedic, and psychosocial outcomes. RESULTS: A total of 63 patients (43.4%) with ≥10 years of follow up were included for analysis. Thirty-nine (61.9%) patients were 18 years or older. Twenty-two (34.9%) patients were female and 39 (61.9%) male, 14 of whom were gender converted at birth. Two female patients conceived naturally and delivered via cesarean section. No male born CE patients had biological children. Catheterizable channels were common (45/63, 71.4%) and most (88.9%) were continent. Gastrointestinal diversion was managed mostly by colostomy (37/63, 58.7%). Three out of five (60.0%) patients who underwent PSARP were continent of stool. Twenty-two (34.9%) patients were wheelchair-bound. Psychosocial diagnoses included 52.4% (33/63) patients with anxiety/depression and 27.0% with chronic pain. Out of 56 patients evaluated by physical therapy, 75% were independent in ADL performance. Of patients older than 18, 79.5% (31/39) had attended college and 82.1% (32/39) were gainfully employed. CONCLUSION: Advances in critical care, nutrition, gastrointestinal, orthopedic, and urologic management have resulted in survival rates approaching 100% among patients with CE. While these children face long-term sequela spanning various organ systems, many lead independent and fully-functional lives. TYPE OF STUDY: Prognosis Study. LEVEL OF EVIDENCE: Level IV.

Prenatal Presentation of a Covered Cloacal Exstrophy Variant; Early Diagnostic Challenges Within the Broad Spectrum of the Exstrophy-Epispadias Complex.

There is a broad range of variant phenotypes that can occur within the bladder exstrophy and epispadias complex spectrum. Accurate prenatal detection helps prepare families and to coordinate subspecialty resources. Here, we present the case of a patient with prenatally diagnosed patient with covered cloacal exstrophy variant along with four additional cases illustrating the nonlinear spectrum from isolated epispadias to cloacal exstrophy. Given the rarity of these variants overall and of each subtype within the spectrum, there is a need for long-term multi-institutional outcomes data to improve detection, characterization, and prognostication for these patients.

Urethro-urethrostomy for urethral duplication (Type IIA1) in a 3-years-old boy: Surgical approach.

INTRODUCTION: To report a novel maneuver of end-to-side urethro-urethrostomy for managing Type IIA1 urethral duplication (UD). MATERIALS AND METHODS: A 3-years-old boy was referred to our institute for abnormal appearance of genitalia. Physical examination revealed an epispadiac meatus on the dorsum of the penile shaft, in addition to the orthotopic meatus at the tip of glans. He can void through both urethrae with continence (grade I). Voiding cystourethrography and the cystoscopy confirmed the Type IIA1 UD with two urethrae arising independently from the bladder neck. A novel maneuver of end-to-side urethro-urethrostomy transferring the dorsal urethra through the corpus cavernosa and anastomosing it to the posterior wall of the ventral urethra was successfully performed. RESULTS: The urethral catheter was removed 2 weeks postoperatively. Neither urethral stricture nor fistula was noticed. After 1 year of followed-up, the boy can void fluently with continence (grade I). The Qmax was 10.4 ml/s. CONCLUSION: Our maneuver of end-to-side urethro-urethrostomy for managing Type IIA1 UD was safe and effective, especially for the continent cases with the ectopic meatus on the penile shaft.

De novo variants identified by trio whole exome sequencing of bladder exstrophy epispadias complex.

Bladder exstrophy epispadias complex (BEEC) encompasses a spectrum of conditions ranging from mild epispadias to the most severe form: omphalocele-bladder exstrophy-imperforate anus-spinal defects (OEIS). BEEC involves abnormalities related to anatomical structures that are proposed to have a similar underlying etiology and pathogenesis. In general, BEEC, is considered to arise from a sequence of events in embryonic development and is believed to be a multi-etiological disease with contributions from genetic and environmental factors. Several genes have been implicated and mouse models have been generated, including a knockout model of p63, which is involved in the synthesis of stratified epithelium. Mice lacking p63 have undifferentiated ventral urothelium. MNX1 has also been implicated. In addition, cigarette smoking, diazepam and clomid have been implied as environmental factors due to their relative association. By in large, the etiology and pathogenesis of human BEEC is unknown. We performed de novo analysis of whole exome sequencing (WES) of germline samples from 31 unrelated trios where the probands have a diagnosis of BEEC syndrome. We also evaluated the DECIPHER database to identify copy number variants (CNVs) in genes in individuals with the search terms "bladder exstrophy" in an attempt to identify additional candidate genes within these regions. Several de novo variants were identified; however, a candidate gene is still unclear. This data further supports the multi-etiological nature of BEEC.