Simultaneous second-stage Fowler-Stephens Orchiopexy and microvascular testicular autotransplantation in a patient with prune belly syndrome with cryptorchidism.

We present a case of simultaneous second-stage Fowler-Stephens Orchiopexy (FSO) with microvascular testicular autotransplantation for cryptorchidism and in a patient with prune belly syndrome. At 5 months old, the patient underwent laparoscopic bilateral first-stage FSO with the right testicle located 1 cm from the liver and the left slightly more caudal. An ultrasound on postoperative Day 72 following second-stage FSO and microvascular autotransplantation showed patent testicular vasculature. Our experience shows that this combination technique is safe and effective to supercharge the testicle and augment collateral vessels if clinical suspicion for monotherapy failure is high.

Intra-operative Urodynamics: Is the Test an Accurate Representation of the Lower Urinary Tract in Children?

OBJECTIVE: To compare intraoperative UDS results with UDS in the postoperative care unit (PACU) to assess the accuracy and efficacy of intraoperative UDS in children who cannot tolerate ambulatory urodynamic evaluation. METHODS: Pediatric patients undergoing intraoperative UDS at a single institution were enrolled over a 5-year time period (1/2013-8/2018). Urodynamics were performed in the operating room under general anesthesia, then in the PACU after recovery from anesthesia. Electromyographic (EMG) activity during filling, bladder compliance, cystometric bladder capacity (CBC), detrusor overactivity, presence of urinary leak, leak point pressure (LPP), and pressure specific volumes (PSV) at 10, 20, 30, and 40 cm water were compared between studies. RESULTS: Nineteen patients underwent urodynamic evaluation under general anesthesia and met inclusion criteria. Ten patients (52.6%) underwent 2 filling cycles while awake in PACU, resulting in a total of 48 urodynamic studies available for subsequent analysis. Intraoperative urodynamic studies were more likely to have decreased EMG activity during filling (P=<.01), normal compliance (P <.01), and a lower detrusor LPP (P = .03) compared to UDS performed after recovery from anesthesia. Detrusor overactivity was less frequently observed intraoperatively (P <.001) and involuntary detrusor contractions were lower in magnitude than those observed in the PACU. Twelve of the 19 (63%) children had detrusor overactivity that was present only on the UDS in PACU and not intra-operatively. CONCLUSIONS: The results of urodynamic testing performed under general anesthesia should be interpreted with caution, as pediatric patients appear to have improved bladder compliance, lower detrusor LPP and decreased detrusor overactivity when under anesthesia. For this reason, it is preferable to utilize ambulatory urodynamic evaluation to guide patient management and treatment.

The different elements of the Urinary Tract Dilation (UTD) Classification System and their capacity to predict findings on mercaptoacetyltriglycine (MAG3) diuretic renography.

INTRODUCTION: The UTD Classification System risk stratifies postnatal UTD into three groups: low risk (UTD P1), intermediate risk (UTD P2), and high risk (UTD P3). In the original consensus document, a functional scan is not recommended for UTD P1 and is left to the discretion of the clinician for UTD P2 and P3. OBJECTIVE: This study aims to understand which patients with postnatal urinary tract dilation would benefit from a functional study. We investigated how different elements of the UTD classification system predict differential renal function (DRF) and diuretic half-life (T½) on MAG3 scan in infants undergoing evaluation for prenatally detected UTD. STUDY DESIGN: This is a multicenter retrospective chart review of infants 6 months of age or younger evaluated for prenatal UTD, correlating their first MAG3 scan and first postnatal renal ultrasound (RUS). Multivariable logistic regression was used to find UTD elements predictive of DRF < 40% and/or T½ > 20 min. RESULTS: A total of 517 patients met study criteria. Median age at time of RUS and MAG3 renal scan was 48 days (IGR 31-81) and 63 days (IQR 45-98), respectively. DRF < 40% was found in 6% of kidneys with UTD P2 and 35% of kidneys with UTD P3. T½ > 20 min was found in 31% of kidneys with UTD P2 and 79% of kidneys with UTD P3. An abnormal ureter (OR 2.7, 95% CI 1.2-6.0) and parenchymal thinning (OR 16, 95% CI 5.8-41.4) were significant at predicting DRF < 40%. Parenchymal thinning (OR 3.0, 95% CI 1.5-6.1) also predicted T½ > 20 min, as did each cm increase in the anterior-posterior renal pelvic diameter (APRPD) (OR 4.8, 95% CI 3.0-7.7). DISCUSSION: The UTD system discriminates well and correlates with the likelihood of finding adverse features on diuretic renography. Patients in the UTD P3 high-risk category had a significantly higher incidence of decreased differential renal function and delayed drainage than those in UTD P1 and P2. Of the individual components of the UTD Classification system, the presence of parenchymal thinning was the most important factor in predicting both decreased differential renal function and delayed drainage. CONCLUSION: Given the high incidence of poor function and delayed drainage seen in the UTD P3 group, we believe a functional study should be recommended in the evaluation of these patients. Our findings support leaving the performance of a functional study at the discretion of the physician for UTD P2.

Chemoradiotherapy-induced Cytodifferentiation in Bladder/Prostate Rhabdomyosarcoma With Genetic Downregulation of Myogenin and MyoD1 Gene Expression: A Case Study and Review of the Literature.

Rhabdomyosarcoma is the most common sarcoma diagnosed in childhood and adolescence, arising from the bladder/prostate in only 5%-10% of cases. Treatment-induced cytodifferention of tumor cells into mature rhabdomyoblasts has been reported following chemoradiation and is thought to suggest a more favorable outcome. We report a case of embryonal rhabdomyosarcoma of the bladder/prostate that exhibited extensive cytodifferentiation with downregulation of myogenin and MyoD1 gene expression in rhabdomyoblasts following treatment with chemoradiation therapy. The downregulation of myogenin and MyoD1 expression in rhabdomyoblasts following chemoradiation treatment has not previously been described in the literature and its significant remains uncertain.

Intermediate Follow-up and Management of Previously Reported Malignant Peripheral Nerve Sheath Tumor of the Penis.

Malignant peripheral nerve sheath tumors (MPNSTs) are soft tissue sarcomas that arise from peripheral nerve fibers and primarily occur in the setting of neurofibromatosis (NF1). MPNST arising from the penis is very rare and may require mutilating surgery to achieve surgical cure. We previously reported a case of MPNST involving the penis in a 14-month-old boy treated with neoadjuvant chemotherapy, total penectomy, and adjuvant radiation. Here we report intermediate follow-up of the same patient, describe his subsequent genitourinary reconstruction, and discuss management dilemmas that arise following treatment of penile MPNST.

3-Dimensional Magnetic Resonance Imaging Guided Pelvic Floor Dissection for Bladder Exstrophy: A Single Arm Trial.

PURPOSE: We determined the safety and efficacy of intraoperative magnetic resonance imaging guided surgical reconstruction of bladder exstrophy for the identification of the urogenital diaphragm fibers and the thickened muscular attachments between the posterior urethra, bladder plate and pubic rami. MATERIALS AND METHODS: Institutional review board and U.S. Food and Drug Administration approval was obtained for the use of Brainlab (Munich, Germany) intraoperative magnetic resonance imaging guided navigation of the pelvic floor anatomy during closure of classic bladder exstrophy and cloacal exstrophy at our institution. Preoperative pelvic 3-dimensional magnetic resonance imaging was obtained 1 day before closure in patients undergoing pelvic osteotomies. Intraoperative registration was performed after preoperative planning with a pediatric radiologist using 5 anatomical landmarks immediately before initiation of surgery. Accuracy of pelvic anatomy identification was assessed by 2 pediatric urological surgeons and 1 pediatric radiologist. RESULTS: In 43 patients with classic bladder exstrophy and 4 patients with cloacal exstrophy closed at our institution, Brainlab technology was used successfully to navigate and guide the dissection of the pelvic floor intraoperatively. In all patients there was 100% accuracy in the correlation of gross anatomical landmarks with 3-dimensional magnetic resonance imaging identified landmarks intraoperatively, and all patients had successful closure without any major complications. CONCLUSIONS: Brainlab intraoperative 3-dimensional magnetic resonance imaging guided pelvic floor navigation and dissection is an effective way to accurately identify pelvic anatomy during classic bladder exstrophy and cloacal exstrophy closure. This technology offers a unique opportunity for surgical skill education in this complex reconstructive operation.

Perioperative Analgesic Management of Newborn Bladder Exstrophy Repair Using a Directly Placed Tunneled Epidural Catheter with 0.1% Ropivacaine.

Effective multimodal analgesia and sedation reduce the postoperative morbidity and mortality associated with newborn bladder exstrophy repair. Epidural analgesia is safe and effective for major surgery in neonates and infants, reducing the need for muscle relaxants, opioids, and ventilator support postoperatively. The risk of epidural catheter colonization typically dictates removal after 3 to 5 days. Tunneling the catheter subcutaneously reduces the risk of colonization, providing prolonged analgesia for patients requiring an extended immobilization to prevent compromise of the repair. In this report, we describe the postoperative analgesic management of an infant undergoing bladder exstrophy repair using a directly placed tunneled epidural catheter with ropivacaine 0.1% infusion. Because of the prolonged infusion, we also monitored plasma ropivacaine levels to preclude systemic toxicity from local anesthetic overdose.

Pediatric surgical complications of major genitourinary reconstruction in the exstrophy-epispadias complex.

PURPOSE: Urinary continence is the goal of exstrophy-epispadias complex (EEC) reconstruction. Patients may require a continent urinary diversion (CUD) if they are a poor candidate for bladder neck reconstruction or are receiving an augmentation cystoplasty (AC) or neobladder (NB). This study was designed to identify the incidence of surgical complications among various bowel segments typically used for CUD. METHODS: A prospectively kept database of 1078 patients with EEC at a tertiary referral center from 1980 to 2012 was reviewed for major genitourinary reconstruction. Patient demographics, surgical indications, perioperative complications, and outcomes were recorded. RESULTS: Among reviewed EEC patients, 134 underwent CUD (81 male, 53 female). Concomitant AC was performed in 106 patients and NB in 11. Median follow up time after initial diversion was 5 years. The most common CUD bowel segments were appendix and ileum. The most common surgical complications after CUD were small bowel obstruction, post-operative ileus, and intraabdominal abscess. There was a significantly increased risk in the occurrence of pelvic or abdominal abscess when colon was used as a conduit compared to all other bowel segments (OR=16.7, 95% CI: 1.16-239) and following NB creation compared to AC (OR=39.4, 95% CI: 3.66-423). At postoperative follow-up, 98% of patients were continent of urine via their stoma. CONCLUSION: We report the largest series to date examining CUD in the EEC population. The increased risk of abdominal and pelvic abscesses in patients who receive a colon CUD and undergo NB compared to AC indicates that while surgical complications following major genitourinary reconstruction are rare, they do occur. Practitioners must be wary of potential complications that are best managed by a multi-disciplinary team approach.

Duplicated pelvic floor musculature and diastematomyelia in a cloacal exstrophy patient.

Cloacal exstrophy is the most severe and rare form of the exstrophy-epispadias complex, presenting with exposed bladder halves extruding through an abdominal wall defect and variable genitourinary, gastrointestinal, musculoskeletal, and neurological defects. The authors report magnetic resonance imaging findings of a neurologically-intact, 24-month-old female with cloacal exstrophy who presented with anterior spinal dysraphism and diastematomyelia and duplicate pelvic floor musculature. The constellation of defects suggests a common genetic, biochemical, and embryological origin for duplication of the bladder, spinal cord, and pelvic floor muscles occurring in the fourth week of gestation.

Impact of pelvic osteotomy on the incidence of inguinal hernias in classic bladder exstrophy.

BACKGROUND/PURPOSE: The high prevalence of inguinal hernias in the bladder exstrophy population is well documented. The authors' aim is to determine whether pelvic osteotomy reduces the incidence of primary and recurrent inguinal hernias in patients with classic bladder exstrophy. METHODS: Using an institutionally-approved database, patients who underwent immediate or delayed primary bladder closure between 1974 and 2012 were identified and stratified by the use of pelvic osteotomy at the time of closure. Data were analyzed using Fisher's exact test and multivariate logistic regression analysis. RESULTS: One hundred thirty-six patients were identified with a median follow up of 8years. The incidence of inguinal hernias following closure was 25% in the osteotomy group versus 46% in the non-osteotomy group (p=0.017). Osteotomy was associated with a significant decrease in recurrence of inguinal hernias amongst patients who underwent previous repair (17% versus 47%, osteotomy versus non-osteotomy, p=0.027) and the development of primary inguinal hernias in whom initial groin exploration was negative (20% versus 39%, p=0.029). Osteotomy and female sex were associated with a decreased rate of inguinal hernia development after bladder closure while age at closure was not. CONCLUSIONS: Pelvic osteotomy at the time of exstrophy closure decreases the likelihood of primary or recurrent inguinal hernia development.

Urologic complications of major genitourinary reconstruction in the exstrophy-epispadias complex.

OBJECTIVE: To present the authors' experiences with urologic complications associated with various techniques used to create a continent stoma (CS), augmentation cystoplasty (AC), and neobladder in the exstrophy-epispadias complex (EEC) population. METHODS: Retrospective review of medical records of patients who underwent CS with or without bladder augmentation were identified from an institutional review board-approved database of 1208 EEC patients. Surgical indications, tissue type, length of hospital stay, age, preoperative bladder capacity, prior genitourinary surgeries, postoperative urological complications, and continence status were reviewed. RESULTS: Among the EEC patients reviewed, 133 underwent CS (80 male, 53 female). Mean follow-up time after initial continent stoma was 5.31 years (range: 6 months to 20 years). Appendix and tapered ileum were the primary bowel segments used for the continent channel and stoma in the EEC population. The most common stomal complications in this population were stenosis, incontinence, and prolapse. Seventy-nine percent of EEC CS patients underwent AC primarily done with sigmoid colon or ileum. Eleven patients (8%) underwent neobladder creation with either colon or a combination of colon and ileum. Bladder calculi, vesicocutaneous fistula, and pyelonephritis were the most common non-stomal complications. Stomal ischemia was significantly increased in Monti ileovesicostomy compared to Mitrofanoff appendicovesicostomy in classic bladder exstrophy patients (p = 0.036). Furthermore, pyelonephritis was more than twice as likely in colonic neobladder than all other reservoir tissue types in the same cohort (OR = 2.53, 95% CI: 1.762-3.301, p < 0.001). CONCLUSIONS: To the best of the authors' knowledge, this is the largest study examining catheterizable stomas in the exstrophy population. While Mitrofanoff appendicovesicostomy is preferred to Monti ileovesicostomy because it is technically less challenging, it may also confer a lower rate of stomal ischemia. Furthermore, even though ileum or colon can be used in AC with equally low complication rates, practitioners must be wary of potential urologic complications that should be primarily managed by an experienced reconstructive surgeon.

Initial bladder closure of the cloacal exstrophy complex: outcome related risk factors and keys to success.

PURPOSE: This study examines a large single-institution experience with cloacal exstrophy patients, analyzing patient demographics and surgical strategies predictive of bladder closure outcomes. METHODS: One hundred patients with cloacal exstrophy were identified. Complete closure history including demographics, operative history, and outcomes was available on 60 patients. Twenty-six patients with a history of failed initial bladder closure were compared to 34 with a history of successful initial bladder closure. Univariate logistic regression analysis was used to compare the two groups. RESULTS: Median follow up time after initial closure was 9years (range: 13months-29years). A 1cm increase in pre-closure diastasis resulted in a 2.64 increase in the odds of initial closure failure (p=0.004). Protective strategies against failure included delaying closure (per month) (OR=0.894, p=0.009), employing pelvic osteotomies (OR=0.095, p<0.001), and applying external fixation (OR=0.024; p=0.001). Among patients who underwent osteotomy (31% of patients in the failed group, 82% in the successful group), a longer delay between osteotomy and closure (OR=0.033; p=0.005) was also protective against failure. CONCLUSION: Patients with a large diastasis are more likely to fail initial closure. Delaying initial closure for at least 3months, performing pelvic osteotomy, and using an external fixation device post-operatively are strategies that improve closure success.

Role of urethral bulking agents in epispadias-exstrophy complex patients.

OBJECTIVE: Injection of urethral bulking agents (UBA) has been used to increase bladder capacity prior to bladder neck reconstruction (BNR) or as an adjuvant therapy following BNR to improve continence. The purpose of this study was to determine the effectiveness of urethral injections in the exstrophy population. MATERIALS AND METHODS: A review was performed of patient characteristics, bladder capacity, and continence status of all patients with the exstrophy-epispadias complex who underwent injection of UBA between 1980 and 2008. RESULTS: Among 66 patients with a median follow-up of 8 years, 41 underwent injections prior to BNR, and 25 had injections after BNR. Only 24% of patients who underwent injections prior to BNR were continent on last follow-up. Among 25 patients who underwent BNR prior to injection(s), 16 were partially continent and nine were incontinent prior to first injection. Patients who were partially continent attained social continence (dry interval greater than 3 h) at a significantly higher rate than those who were incontinent (63% vs. 13%, p = 0.047). No patient with cloacal exstrophy in either group attained urethral continence. CONCLUSION: UBAs do not appear to have a role prior to BNR. However, they may provide benefit when given adjunctively following BNR in patients who are partially continent.

Bladder capacity as a predictor of voided continence after failed exstrophy closure.

OBJECTIVE: To evaluate potential predictors of voided continence among bladder exstrophy patients with a history of a failed closure. PATIENTS AND METHODS: The authors reviewed all patients who underwent a bladder neck reconstruction (BNR) with a history of one or more failed exstrophy closures between 1979 and 2007. The following data were collected for each patient: number of failures, site of surgery, mode of failure, presence of osteotomy, bladder capacity, need for additional procedures, and continence status. RESULTS: Among patients who underwent successful reclosure following one or more failed closures, 52 patients underwent BNR, and 24 (46%) were continent at last follow-up. Bladder capacity was the only variable predictive of voided continence. The median bladder capacity at the time of BNR differed between those who achieved continence (100 mL) and those who did not (65 mL) (p = 0.005). ROC analysis showed an optimal pre-BNR bladder capacity cutoff for predicting future BNR success of between 80 and 100 mL. CONCLUSION: As previously shown in patients with successful primary closure of exstrophy, these data suggest that bladder capacity also has predictive value in the success of BNR after failed exstrophy closure.

Utility of screening ultrasound after first febrile UTI among patients with clinically significant vesicoureteral reflux.

OBJECTIVE: To assess the sensitivity and negative predictive value (NPV) of screening renal and bladder ultrasound (RBUS) after initial febrile urinary tract infection (UTI) among patients with clinically significant vesicoureteral reflux (VUR). METHODS: A retrospective review was performed of all children <2 years of age who presented with a febrile UTI between 2004 and 2011. The sensitivity and NPV of initial RBUS was calculated among patients who were found to have high-grade (IV-V) VUR. Additionally, initial RBUS among patients with evidence of photopenia on dimercaptosuccinic acid (DMSA) scan or who underwent surgical intervention were reviewed. RESULTS: One hundred forty-four patients with febrile UTI were identified; available RBUS, voiding cystourethrogram (VCUG), and DMSA results for each kidney were reviewed. One hundred fifty-eight kidneys had evidence of VUR on VCUG, and initial RBUS demonstrated abnormality in 25 (sensitivity 0.17). Forty-five kidneys had high-grade VUR and RBUS revealed abnormality in 16 (sensitivity 0.36). One hundred seventy-eight kidneys had no evidence of abnormality on initial RBUS, and 136 (76%) were found to have VUR (NPV 0.24), of which 31 had high-grade VUR (NPV 0.83). Seven kidneys had scarring on DMSA and initial RBUS was normal in 4 (57%). Twelve of 19 patients (63%) who eventually underwent surgical intervention had a normal initial RBUS. CONCLUSION: RBUS has poor sensitivity and NPV for detecting high-grade VUR in patients <2 years who present with a febrile UTI. A significant number of patients who were diagnosed with high-grade VUR, renal scarring, or underwent surgical correction of VUR had a negative screening RBUS.

Modern management of bladder exstrophy repair.

The exstrophy-epispadias complex is a rare congenital malformation of the genitourinary system, abdominal wall musculature, and pelvic bones. Historically, surgical outcomes in patients with classic bladder exstrophy, the most common presentation of the exstrophy-epispadias complex, were poor. However, modern techniques have increased the success of achieving urinary continence, satisfactory cosmesis, and improved quality of life. Still, recent studies recognize complications that may occur during management of these patients. This review provides readers with an overview of the exstrophy-epispadias complex, the modern management of bladder exstrophy, and potential surgical complications.

Novel mutation among two sisters with 17ß hydroxysteroid dehydrogenase type 3 deficiency.

The clinical presentations of 17ß hydroxysteroid dehydrogenase type 3 (17ß-HSD3) deficiency, 5α-reductase type 2 deficiency, and complete androgen insensitivity syndrome can be similar. However, those with 17ß-HSD3 deficiency and 5α-reductase type 2 deficiency will develop virilization and should undergo gonadectomy after genetic testing before the age of puberty if reared in the female sex. Two sisters were initially diagnosed with complete androgen insensitivity syndrome as young children after testes were discovered during hernia surgery. Virilization occurred in both sisters during puberty, and a diagnosis of 17ß-HSD3 deficiency was suspected. Confirmatory diagnosis through gene sequencing identified a heterozygous mutation for both a known splicing mutation and a previously unreported amplification mutation of the HSD17B3 gene.

Review and management of 46,XY disorders of sex development.

Disorders of sex development (DSD) among 46,XY individuals are rare and challenging conditions. Abnormalities of karyotype, gonadal formation, androgen synthesis, and androgen action are responsible for the multiple disorders that result in undervirilization during development. Phenotypic appearance and timing of presentation are quite variable. The focus of treatment has shifted from early gender assignment and corrective surgery to careful diagnosis, proper education of patients and their families, and individualized treatment by a multi-disciplinary team. The modern management of these patients is difficult and controversial. Conflicting data on long-term outcomes of these individuals have been reported in the literature. The various etiologies of 46,XY DSD, current approaches to diagnosis and treatment, and reported long-term results are reviewed.

Radial forearm free flap phalloplasty for penile inadequacy in patients with exstrophy.

PURPOSE: Male patients with bladder and cloacal exstrophy are born with demure genitalia and often desire phalloplasty during late adolescence or early adulthood. Radial forearm free flap phalloplasty was used successfully for congenital aphallia in a few small series. We present a series of patients treated with phalloplasty using a radial forearm free flap after the repair of bladder and cloacal exstrophy. MATERIALS AND METHODS: We reviewed the records of 10 patients who underwent radial forearm free flap phalloplasty between 2007 and 2012. Indications for phalloplasty were classic bladder exstrophy in 8 cases and cloacal exstrophy in 2. Nine patients underwent prior urinary diversion and 1 underwent urethroplasty at phalloplasty. In each case we reviewed the details of prior exstrophy repair, flap size, donor and recipient vessels, complications, need for subsequent surgeries and self-reported sensation. RESULTS: The graft survived in all 10 patients. Short-term complications requiring surgical intervention developed in 2 patients. Five patients subsequently underwent placement of a penile prosthesis and 2 devices were removed secondary to erosion. All 10 patients reported protective sensation and erogenous sensation with ability to achieve orgasm at last followup. CONCLUSIONS: Radial forearm free flap phalloplasty results in a sensate, cosmetic neophallus. No patient had long-term complications related to phalloplasty but complications related to penile prostheses continue to be a challenging aspect of phalloplasty. The long-term results of the forearm free flap are encouraging in this series of patients with bladder and cloacal exstrophy who desired phalloplasty.