Endometriosis in a pre-pubertal patient with 46,XY difference in sex development: a case report.

INTRODUCTION: Endometriosis typically presents in postmenarchal patients with cyclic and acyclic pelvic pain. However, there are reports of endometriosis in premenarchal patients. CASE: We report a ten-year-old individual with 46,XY DSD who was found to have endometriosis at the time of laparoscopic gonadectomy for gonadoblastoma. CONCLUSIONS: Although rare, endometriosis can occur in 46,XY individuals prior to puberty, highlighting the complex origin of the disease.

Barriers to Transitional Care in Spina Bifida.

The health care needs children with spina bifida evolve over their lifetime; continued, regular contact with appropraitely trained, multidisciplinary providers is crucial to a patient's health and quality of life. Substantial research has been conducted to improve the transition process starting at an early age; however, there continue to be strong barriers to successful transition. This article reviews key aspects of the care of patients with spina bifida, the impact of inadequate transition to adult care, barriers to transition, and offers a potential vision for the future.

Adult urological outcomes for patients with anorectal malformation.

Anorectal malformations (ARM) are rare congenital anomalies characterized by a spectrum of defects resulting in the absence of a normal anal opening with or without fistula. Urogenital involvement is common, and the fistulous tract may terminate in the genitourinary system in males or within gynecological structures in females. Surgical reconstruction occurs early in life and survival of these patients to adulthood is the norm. There has, therefore, been increased focus on their long-term outcomes to better anticipate and treat the sequelae that may impact their health and well-being as this population ages. For urologists, urinary health, sexual function, and fertility outcomes are of particular interest among this population. This article aims to provide a review of urological, sexual, and fertility outcomes for individuals born with ARM with a focus on key issues that may occur later in life to ensure adequate counseling, screening, and treatment.

Long term outcomes in classic bladder exstrophy - The adult picture.

With continued improvements in medical care and surgical reconstruction, more patients with classic bladder exstrophy (CBE) are living into adulthood, than ever before. With improved survival, a greater emphasis on adult issues and improving quality of life (QOL) for these individuals is of increasing importance. This review aims to summarize data on long-term considerations for the adult with exstrophy and to highlight areas of future research and collaboration. Key conclusions are that continence or dryness are achievable alongside the ability to enjoy sexual relationships and a good quality of life.

Considerations and Outcomes for Adolescents and Young Adults With Cloacal Anomalies: A Scoping Review of Urologic, Colorectal, Gynecologic and Psychosocial Concerns.

The objective of this scoping review is to provide a summary of the current literature regarding adolescents and young adults with histories of cloacal anomalies. Preferred Reporting Items for Systematic Reviews and Meta-analysis Extension for Scoping Reviews were used. Data were categorized into four domains-urologic, colorectal, gynecologic/obstetric, and sexual/psychosocial. The current literature has poor study quality and mostly consists of retrospective studies of small cohorts with varying definitions of outcomes. Women with cloacal anomalies are at high risk for urologic dysfunction but can maintain kidney health and achieve social continence with medical and surgical management. Sexual function and adult healthcare transition are areas ripe for improved future research.

Unrepaired cloacal exstrophy in an adult: Medical and ethical considerations.

Cloacal exstrophy, also known as OEIS complex, is a rare condition, comprised of severe congenital anomalies. This case report describes a 24-year-old 46,XY individual who had repair of the omphalocele at birth, but has remained with an unrepaired bladder exstrophy. This case highlights the intersections between medical decision-making, individualized management of complex patients, and ethical considerations for adults lacking capacity.

Achieving goal capacity for continence surgery: A cumulative event analysis of bladder exstrophy patients.

BACKGROUND: Following successful closure of patients with classic bladder exstrophy (CBE), the next major milestone is the establishment of urinary continence. Prior to determining the most appropriate continence surgery, it is imperative to reach an adequate bladder capacity minimum of 100 cc in order to make the decision between bladder neck reconstruction (BNR) or continent stoma, with or without augmentation cystoplasty (AC). OBJECTIVE: To examine the timing of when patients achieve threshold bladder capacity for BNR eligibility. We hypothesize most patients will achieve an adequate bladder capacity (100 cc) by 7 years old when continence surgeries will begin to be considered. STUDY DESIGN: An institutional database of 1388 exstrophy patients was retrospectively reviewed for CBE patients after successful primary bladder closure. Bladder capacities were measured via gravity cystography and data presented as descriptive statistics. The cohort was stratified by location, neonatal (≤28 days) or delayed closure period and osteotomy status. The bladder capacities were categorized to either reaching goal or not and a cumulative event analysis was performed. The event being reaching 100 cc capacity or greater and time being the number of years between bladder closure and attainment of goal capacity. RESULTS: 253 patients met inclusion criteria between 1982 and 2019. The majority were of male gender (72.9%), had their closure performed at the authors' institution (52.5%), within the neonatal period (80.7%), and without an osteotomy (51.7%). 64.9% of patients reached goal bladder capacity. There were no significant differences in those who did or did not achieve goal except for clinical follow up. Cumulative event analysis demonstrated a median time of 5.73 years (95% CI 5.2-6.20) corresponded with a 50% event probability of reaching goal capacity. Cox-proportional hazards showed location of closure was significantly associated with hazards of reaching goal bladder capacity (HR = 0.58, CI 0.40-0.85, p = 0.005). Based on this model, the median time to event would be 5.20 years (95% CI 4.76-5.80) for cases done at the authors' hospital and 6.26 years for those performed at an outside hospital (95% CI 5.77-7.24). CONCLUSIONS: These findings help surgeons counsel families appropriately on the odds of attaining goal capacity at various ages. For those who do not reach 100 cc by five years of age, it helps further characterize the odds of requiring a continent stoma with bladder augmentation and the best timing for reconstructive surgery in order to safely gain urinary continence. Families may also be assured that most patients would have the breadth of surgical options when it comes to continence as more than half of patients reached the bladder capacity threshold.

Management of the urological tract in children with anorectal malformations - a contemporary review.

Anorectal malformations (ARMs) consist of a broad spectrum of congenital anomalies that are associated with an equally wide variety of urological abnormalities, often with increasing incidence as the severity of the ARM increases. The importance of urologic involvement in the care of ARM patients has been noted for decades and is critical from birth to adulthood. Urology must be involved in the initial evaluation and operative care of the child as well as in monitoring and managing issues such as neurogenic bladder, renal disease, and eventually sexual function and fertility. Care of the ARM patient must be done through a multidisciplinary lens, with the urologist as a key player. This review will serve as an update on the management of the urologic tract in children with ARM.

Complications of delayed and newborn primary closures of classic bladder exstrophy: Is there a difference?

INTRODUCTION: The authors aim to compare single institutional 30-day complication rates between delayed and neonatal closure of classic bladder exstrophy (CBE). MATERIALS AND METHODS: An institutional database of 1415 exstrophy-epispadias patients was reviewed retrospectively for CBE patients who underwent primary closures at the authors' institution between 1990 and 2020. Patients were identified as having received either neonatal or delayed (at age >28 days) closures. All 30-day complications were recorded, including wound infection and dehiscence, genitourinary and non-genitourinary infections, bowel obstruction, blood transfusions, and others. Descriptive statistics were performed to summarize patient level data. Categorical variables were reported by count and percentages and were compared using Exact Cochran-Armitage trend analysis by decade, or with Fisher's Exact Test and Chi-square test when directly comparing categories and outcomes. Continuous variables were analyzed via Mann Whitney U and one-way ANOVA as appropriate. RESULTS: The cohort included 145 patients: 50 delayed and 95 neonatal closures. The total complication rate was 58% in delayed closures compared to 48.4% for neonatal closures (p = 0.298), with the majority being Clavien-Dindo grade I or II. Excluding blood transfusion, complication rates fell to 26% and 34.7% in delayed and neonatal closures, respectively (p = 0.349). The most common single complication was unplanned post-operative blood transfusion (38% delayed; 26.3% neonatal; p = 0.34), followed by pyelonephritis (2% delayed; 8.4% neonatal), and urinary fistula (6% delayed; 1.1% neonatal). Grade III Clavien-Dindo complications occurred in 2% delayed and 7.4% neonatal groups (n = 1; n = 7 respectively; p = 0.263). A single delayed patient had grade IV complications compared to three neonatal patients (p = 0.66). CONCLUSIONS: Delayed primary closure has become a frequently performed alternative in the modern treatment of bladder exstrophy for patients who do not undergo newborn closure because of prohibitive circumstances or surgeon's discretion. The majority of the complications associated with delayed closure are a low Clavien-Dindo grade and easily managed during the postoperative inpatient hospital stay. Families should be counseled about the possibility of minor, conservatively managed complications and likelihood of a blood transfusion with osteotomy.

The exstrophy experience: A national survey assessing urinary continence, bladder management, and oncologic outcomes in adults.

INTRODUCTION AND OBJECTIVE: The bladder exstrophy-epispadias complex (BEEC) is a rare spectrum of congenital genitourinary malformations with an incidence of 1:10,000 to 1:50,000. Advances in reconstructive surgical techniques have improved clinical outcomes, but there is a paucity in data about disease sequela in adulthood. This is the largest survey to date in the United States exploring the urinary continence, bladder management, and oncologic outcomes in adults with BEEC. METHODS: Respondents were over the age of 18 with a diagnosis of bladder exstrophy, cloacal exstrophy, or epispadias. They were treated at the authors' institution, included in the Association for the Bladder Exstrophy Community (A-BE-C) mailing list, and/or engaged in A-BE-C social media. A survey was created using uniquely designed questions and questionnaires. Survey responses between May 2020 and July 2020 were processed using Research Electronic Data Capture (REDCap). Quantitative and qualitative statistics were used to analyze the data with significance at p < 0.05. RESULTS: A total of 165 patients completed the survey. The median age was 31.5 years (IQR 25.9-45.9). Many patients considered themselves continent of urine, with a median satisfaction score of 74 (IQR 50-97) on a scale from 0 (consider themselves to be completely incontinent) to 100 (consider themselves to be completely continent). There was less leakage among those with a continent urinary diversion compared to those who void or catheterize per urethra (p = 0.003). Patients with intestinal-urinary tract reconstruction, such as augmentation cystoplasty or neobladder creation, were more likely to perform bladder irrigations (p = 0.03). Patients with continent channels were more likely to report UTI than all other forms of bladder management (89.0% vs. 66.2%, p = 0.003). Three (1.9%) patients were diagnosed with bladder cancer. A small portion of patients (27.2%) were given bladder cancer surveillance recommendations by a physician. DISCUSSION: Most patients achieved a satisfactory level of urinary continence, with the highest continence rates in those with a continent urinary diversion. Those with intestinal-urinary tract reconstruction were more likely to perform bladder irrigations, perhaps to avoid complications from intestinal mucous production. The rates of self-reported UTI and were higher in patients with continent channels, but recurrent UTIs were not affected by the type of genitourinary reconstruction. Bladder cancer exists in this population, highlighting the need for long-term follow-up. CONCLUSION: Most BEEC patients achieve a satisfactory level of urinary continence, with the best outcomes in those with a continent urinary diversion. This population requires long-term follow-up with a transitional urologist to ensure adequate oncologic care.

Adrenal pheochromocytoma in a patient with Lynch Syndrome.

Lynch Syndrome (LS), or hereditary non-polyposis colorectal cancer, is the most common cause of hereditary colorectal cancer. There are well described extra-colonic manifestations of LS, including gynecologic and upper urinary tract malignancies. Other extra-colonic manifestations of LS are less understood. Here we present an unusual case of a functional adrenal pheochromocytoma in a 31-year old man with LS.

Patient and in-hospital predictors of post-discharge opioid utilization: Individualizing prescribing after radical prostatectomy based on the ORIOLES initiative.

OBJECTIVE: Judicious opioid stewardship would match each patient's prescription to their true medical necessity. However, most prescribing paradigms apply preset quantities and clinical judgment without objective data to predict individual use. We evaluated individual patient and in-hospital parameters as predictors of post-discharge opioid utilization after radical prostatectomy (RP) to provide evidence-based guidance for individualized prescribing. METHODS: A prospective cohort of patients who underwent open or robotic RP were followed in the Opioid Reduction Intervention for Open, Laparoscopic, and Endoscopic Surgery (ORIOLES) initiative. Baseline demographics, in-hospital parameters, and inpatient and post-discharge pain medication utilization were tabulated. Opioid medications were converted to oral morphine equivalents (OMEQ). Predictive factors for post-discharge opioid utilization were analyzed by univariable and multivariable linear regression, adjusting for opioid reduction interventions performed in ORIOLES. RESULTS: Of 443 patients, 102 underwent open and 341 underwent robotic RP. The factors most strongly associated with post-discharge opioid utilization included inpatient opioid utilization in the final 12 hours before discharge (+39.6 post-discharge OMEQ if inpatient OMEQ was >15 vs. 0), maximum patient-reported pain score (range 0-10) in the 12 hours before discharge (+27.6 OMEQ for pain score ≥6 vs. ≤1), preoperative opioid use (+76.2 OMEQ), and body mass index (BMI; +1.4 OMEQ per 1 kg/m2). A final predictive calculator to guide post-discharge opioid prescribing was constructed. CONCLUSIONS: Following RP, inpatient opioid use, patient-reported pain scores, prior opioid use, and BMI are correlated with post-discharge opioid utilization. These data can help guide individualized opioid prescribing to reduce risks of both overprescribing and underprescribing.

Contemporary Assessment of the Most Cited Clinical, Basic Science, and Guidelines Papers in Urology: A Reference for Urology Journal Club.

OBJECTIVE: To perform bibliometric analysis of the top cited articles in urology as a guide for journal club article selection. METHODS: Bibliometric citation analysis was performed using Scopus. Tables illustrating the top cited clinical, basic science, and guidelines/position statements papers were constructed. Linear regression was used to determine association between h-index and number of citations. RESULTS: A total of 3,188,861 publications from 1788 to 2020 were analyzed. The top 100 cited clinical papers from 1788 to 2020, top 100 cited contemporary clinical papers from 2000 to 2020, top 25 cited basic science papers, and the top 25 cited guidelines/position statement papers were reported. Median number of citations in the top 100 cited clinical papers was 1463 (interquartile range 1186-1821). Memorial Sloan Kettering Cancer Center (12), Johns Hopkins University (6), and Harvard University (6) contributed the most top cited clinical papers in urology. Urologic oncology was the most represented subspecialty in both clinical (75%) and basic science (96%) papers. First author and last author h-index were found to correlate with the number paper citations in the top 100 cited clinical papers from 1788 to 2020 (first author ß:5.3, P= .003, last author ß:4.5, P= .03). Only 7% of the most cited clinical papers in urology were from female first authors, which was not statistically significantly different from those reported in prior publications published in 2009 and 2013. CONCLUSION: Contemporary citation analysis of indexed manuscripts in urology may serve as a valuable educational tool for urologists and trainees.

Gender Representation Among Plenary Panel Speakers at the American Urological Association Annual Meeting.

OBJECTIVE: To examine trends in the representation of women in plenary panels at the American Urological Association (AUA) Annual Meeting. METHODS: A review of all plenary sessions from AUA Annual Meetings during 2017-2019 was performed. The number and proportion of invited moderators and panelists by gender were recorded and analyzed by the topic of each plenary session. We performed descriptive analyses and tested temporal trends in gender representation. RESULTS: A total of 168 plenary panels were held at the AUA meetings, 62 panels in 2017, 51 panels in 2018, and 55 panels in 2019. Overall, 59% of panels were all-male panels (61% in 2017, 67% in 2018, and 49% in 2019) with exclusively male moderators and panelists. There was no significant change in the proportion of all-male panels during the study period (P = .20). Among the 168 panels, 153 (91%) had a male moderator, and 107 (64%) had only male panelists. Seventy-five unique female speakers accounted for 90 (12%) of the 742 total panel speaking roles. There was significant variation in the proportion of female speakers among 6 plenary topics (P = .03); the overall proportion of all-male panels was highest for sexual medicine sessions (14 of 18 panels, 78%) and lowest for female pelvic medicine sessions (5 of 19 panels, 26%). CONCLUSION: Female representation in plenary panels at recent AUA Annual Meetings did not significantly change, with the majority of panels composed entirely of male speakers. Continued evaluation of these trends may inform efforts to achieve gender equality at national urology meetings.

Clinical Restaging and Tumor Sequencing are Inaccurate Indicators of Response to Neoadjuvant Chemotherapy for Muscle-invasive Bladder Cancer.

BACKGROUND: Standard of care for patients with muscle-invasive bladder cancer (MIBC) includes neoadjuvant cisplatin-based chemotherapy (NAC) followed by consolidative therapy with either chemoradiation or radical cystectomy (RC). Some patients experience robust pathologic responses to NAC, and these have been reported to associate with somatic mutations in specific gene pathways including DNA damage response genes. OBJECTIVE: To evaluate the ability of post-NAC clinical restaging, with or without tumor sequencing, to predict final RC pathologic staging. DESIGN, SETTING, AND PARTICIPANTS: We reviewed our institutional review board-approved institutional database to identify patients with MIBC who underwent NAC followed by RC from 2003 to 2016. Following NAC prior to RC, cystoscopy was performed routinely, with resection of residual visible tumor and/or tumor base (transurethral resection [TUR]). For patients with pre-NAC tumor tissue available, tumor sequencing was performed. Outcome measurements and statistical analysis: Clinical restaging and tumor sequencing were evaluated for their ability to predict the final pathologic stage accurately at RC using chi-square or Fisher's exact test. RESULTS AND LIMITATIONS: A total of 114 patients underwent restaging TUR following NAC and prior to RC. The diagnostic accuracy of post-NAC clinical restaging including TUR was poor, with 32% of patients being downstaged falsely when compared with their final RC pathology. Forty-nine patients had sequencing of pre-NAC tumor tissue, of whom 32 showed at least one mutation of interest. However, NAC responses and rates of false downstaging did not differ significantly according to tumor mutation status. CONCLUSIONS: This study highlights the inaccuracy of post-NAC clinical restaging TUR with or without adjunctive tumor mutation analysis, to assess pathologic residual disease accurately. Caution must be taken when performing post-NAC restaging, especially when considering conservative management strategies such as active surveillance on this basis. Patient summary: Several groups are evaluating whether certain patients, whose bladder cancer responds well to upfront chemotherapy, may be able to forego cystectomy safely. We demonstrate that currently available staging tools and tumor DNA sequencing cannot identify such patients reliably and accurately.

Delaying primary closure of classic bladder exstrophy: When is it too late?

INTRODUCTION: With current trends towards delaying the closure of classic bladder exstrophy (CBE), bladder growth rate or ultimate capacity may be impacted. OBJECTIVE: To examine consecutive bladder capacities in CBE patients who had primary closures at differing ages and determine whether there is an optimal age for closure, with reference to bladder capacity. STUDY DESIGN: A retrospective review was performed using an institutional database. INCLUSION CRITERIA: CBE, successful neonatal (i.e. ≤28 days old) or delayed (i.e. >28 days old) primary closure, at least three consecutive bladder capacities or two measures taken 18 months apart, and first bladder capacity measured ≥3 months after closure. Only capacities prior to continence surgery and before 14 years of age were considered. Two cohorts were created: neonatal and delayed closure. To account for repeated measurements per patient, a linear mixed model evaluated effects of age and length of delay on bladder capacity based on closure cohort. Individuals in the delayed closure group were further stratified into quartiles to assess for detriment to the bladder based on length of delay. RESULTS: The cohort included 128 neonatal and 38 delayed patients. Median age at closure for the delayed group was 193 days (IQR 128-299). Based on univariate analysis, for the first three capacity measurements, the delayed group had significantly lower capacities despite having a similar median age when the measurements were taken. Linear mixed effects model showed significantly decreased total bladder capacity in delayed closure compared to neonates. The 2nd and 4th quartile groups had the most significant decreases in capacity. DISCUSSION: Time points for the most significant decline appear after the 2nd and 4th quartiles, representing 4-6 months and beyond 9 months, respectively. From this, the authors theorize that the appropriate time to close an exstrophy patient is as early as possible (1st quartile), or, if a delay is needed for growth of a bladder template, then between 6 and 9 months (3rd quartile). There may be a detriment to growth rate, however, statistical power may be lacking to discern this. Study limitations include the single-centered, retrospective design. However, results described here fill an important deficit in the knowledge of managing CBE. CONCLUSIONS: All patients in the delayed bladder closure group demonstrated a decline in bladder capacity compared to the control neonatal closure group, with significant differences in the 2nd and 4th quartiles. Thus, closing the bladder prior to nine months of age is recommended.

Outcomes of inflatable penile prosthesis insertion using a neotunica allograft in neophalluses of patients on the bladder exstrophy-epispadias complex spectrum.

BACKGROUND: Men born on the bladder exstrophy-epispadias complex (BEEC) spectrum may undergo neophallus reconstruction with a variety of free flaps, most commonly radial forearm. In order to achieve erectile function, a penile prosthesis may be inserted following neophallus construction. OBJECTIVE: In this study, we sought to describe the perioperative and clinical outcomes of inflatable penile prosthesis (IPP) insertion into neophalluses of patients along the BEEC spectrum. STUDY DESIGN: Using a prospectively maintained institutional BEEC database, patients who had undergone both neophallus creation and IPP placement were identified for this study. Surgery was performed by two surgeons with expertise in IPP implantation. Operative details and postoperative outcomes and complications were collected with review of the medical record. RESULTS: Overall, there were a total of 13 men who underwent neophallus reconstruction with subsequent IPP placement. Of these men, 76.9% (10/13) had experienced successful primary closure in childhood. One patient had corporal loss secondary to complete primary repair of exstrophy (CPRE) following a failed primary attempt. The average age at IPP placement was 23.2 years (SD ± 5.06). Mean OR time (n = 11) was 244.8 min (SD ± 46.2). 76.9% (10/13) of the cases used AlloDerm™ as a neotunica albuginea for support of the IPP. Three patients (23.1%) experienced complications all of which required revision surgery. Two of these complications were erosions in patients for whom AlloDerm™ was not used in the initial IPP placement. DISCUSSION: The results of this study suggest that IPP placement in neophalluses of males on the BEEC spectrum have low perioperative and postoperative morbidity with successful outcomes. While the rate of complications is notably higher in this group compared to the native penis IPP literature, the use of AlloDerm™ or other allograft materials may help to narrow this gap. CONCLUSIONS: IPP placement in neophalluses of men on the BEEC spectrum is successful in the majority of cases. Complications may be reduced with the use of AlloDerm™ in initial placement.