Male Epispadias Research Articles

Modified Cantwell-Ransley repair for isolated continent epispadias in adult: Our experience.

Purpose:We evaluate here our experience with modified Cantwell–Ransley technique described by Gearhart for correction of isolated continent epispadias in adults with respect to its long-term functional outcome and complications.Introduction:Isolated male epispadias is a rare anomaly with a reported incidence of 1 in 11,700 males. Many surgical techniques with various modifications described to correct epispadias as treatment are debatable and challenging. The majority of the cases are treated at childhood as clinical presentation is striking at birth; hence, presentation in adulthood is extremely rare.Materials and Methods:During the past 5 years, modified Cantwell–Ransley technique described by Gearhart was performed in five cases of isolated continent epispadias which includes two cases of proximal penile, two distal penile and one penopubic. All cases were fresh except one had prior failed repair. Corporal rotation was done by delayed absorbable sutures without incision and anastomosis and suprapubic diversions placed in all the cases. Results:All cases followed up ranging from 6 months to 5 years and were having horizontal and downwards angled penis. No case had urethrocutaneous fistula or stricture. One case had superficial skin infection which healed by secondary intention did not require any secondary procedure. All cases maintained erection post-operatively too. Catheterisation with soft tube revealed easily negotiable channel in all cases on follow-up.Conclusion:Modified Cantwell–Ransley repair described by Gearhart has excellent cosmetic, functional and anatomical results in isolated continent epispadias in the adult.

V7-04 MULTI-INSTITUTIONAL BLADDER EXSTROPHY CONSORTIUM: TECHNICAL STANDARDIZATION OF DISTAL EPISPADIAS REPAIR IN A BOY

You have accessJournal of UrologyPediatrics1 Apr 2016V7-04 MULTI-INSTITUTIONAL BLADDER EXSTROPHY CONSORTIUM: TECHNICAL STANDARDIZATION OF DISTAL EPISPADIAS REPAIR IN A BOY John Ward, David Chu, Jason Van Batavia, Aseem Shukla, Dana Weiss, Joseph Borer, Evalynn Vasquez, John Kryger, Travis Groth, Michael Mitchell, and Douglas Canning John WardJohn Ward More articles by this author , David ChuDavid Chu More articles by this author , Jason Van BataviaJason Van Batavia More articles by this author , Aseem ShuklaAseem Shukla More articles by this author , Dana WeissDana Weiss More articles by this author , Joseph BorerJoseph Borer More articles by this author , Evalynn VasquezEvalynn Vasquez More articles by this author , John KrygerJohn Kryger More articles by this author , Travis GrothTravis Groth More articles by this author , Michael MitchellMichael Mitchell More articles by this author , and Douglas CanningDouglas Canning More articles by this author View All Author Informationhttps://doi.org/10.1016/j.juro.2016.02.561AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookTwitterLinked InEmail INTRODUCTION AND OBJECTIVES Distal male epispadias is a relatively rare entity in the spectrum of exstrophy-epispadias complex. We present a video of a recent distal male epispadias repair that includes skin closure with a rotational skin flap as described by Salle. Preoperative videourodynamics had demonstrated a marginally continent bladder neck, but otherwise normal bladder function. METHODS Technique was male epispadias repair without osteotomy performed at 9 months of life. No pelvic diastasis was present. High-definition video recording was used for real-time local and remote observation and future teaching, analysis, and review as part of the Multi-Institutional Bladder Exstrophy Consortium (MIBEC). RESULTS Our video demonstrates the repair of a mid-shaft distal male epispadias. The penis was initially degloved with a dorsal incision that circumscribes the urethral plate. The corpus spongiosum was then carefully separated off the corpora cavernosal bodies ventrally before moving dorsally. The proximal extent of dissection was the penopubic junction. The corpus spongiosum with dorsal urethral plate was isolated on a vessel loop. Distally, glans wings were made. The glans was never completely disassembled from the corpora cavernosal bodies. A urethroplasty was performed over an 8F urethral stent, and then replaced with a 6F stent that was sutured in place. Next, the neo-urethra and neo-meatus were advanced distally and the urethral plate situated more ventrally. Glansplasty was performed followed by reapproximation of corpora cavernosal bodies dorsally over the urethra without significant medial rotation. Finally, a ventral transverse island penile shaft skin flap was rotated 270 degrees counterclockwise around the penis using the technique of Salle to form a lateral-lying suture line. Three months later the meatus appeared orthotopic and the repair had healed well, with the exception of a small noticeable scar at the location of the suture line of the Salle skin flap (Figure 1). CONCLUSIONS Distal male epispadias repair can be performed effectively in the setting of MIBEC. High-quality video recording of such rare repairs can aid in future teaching and review. The Salle skin closure offers promise to avoid a dorsal penile shaft scar but requires long-term outcomes. © 2016FiguresReferencesRelatedDetails Volume 195Issue 4SApril 2016Page: e723 Advertisement Copyright & Permissions© 2016MetricsAuthor Information John Ward More articles by this author David Chu More articles by this author Jason Van Batavia More articles by this author Aseem Shukla More articles by this author Dana Weiss More articles by this author Joseph Borer More articles by this author Evalynn Vasquez More articles by this author John Kryger More articles by this author Travis Groth More articles by this author Michael Mitchell More articles by this author Douglas Canning More articles by this author Expand All Advertisement Advertisement PDF downloadLoading ...

Ancient Surgical Treatment of Hypospadias (From Hippocrates (5th-4th century B.C.) to the 12th century A.D.)

Introduction: No ancient Greek and Roman physician and surgeon ever observed, diagnosed or described either cases of female hypospadias and epispadias, or male epispadias, but only cases of male hypospadias. However they devised and practised exceptionally skilful surgeries to correct this anatomical defect in men. Material and methods: A critical and philological review of the passages of ancient surgical treatises dealing with hypospadias and its surgical treatment. Results: The medieval physicians confined themselves to inheriting and repeating the surgical achievements of the Greek and Roman surgeons. Conclusion: The surgical techniques, the skill and the anatomophysiological acumen of the Hellenistic surgeons are still astonishing.

Isolated Male Epispadias: Anatomic Functional Restoration Is the Primary Goal.

Background. Isolated male epispadias (IME) is a rare congenital penile malformation, as often part of bladder-exstrophy-epispadias complex (BEEC). In its isolated presentation, it consists in a defect of the dorsal aspect of the penis, leaving the urethral plate open. Occurrence of urinary incontinence is related to the degree of dorsal displacement of the meatus and the underlying underdevelopment of the urethral sphincter. The technique for primary IME reconstruction, based on anatomic restoration of the urethra and bladder neck, is here illustrated. Patients and Methods. A retrospective database was created with patients who underwent primary IME repair between June 1998 and February 2014. Intraoperative variables, postoperative complications, and outcomes were assessed. A descriptive statistical analysis was performed. Results and Limitations. Eight patients underwent primary repair, with penopubic epispadias (PPE) in 3, penile epispadias (PE) in 2, and glandular epispadias (GE) in 3. Median age at surgery was 13.0 months [7–47]; median follow-up was 52 months [9–120]. Complications requiring further surgery were reported in two patients, while further esthetic surgeries were required in 4 patients. Conclusion. Anatomical restoration in primary IME is safe and effective, with acceptable results given the initial pathology.

Prospective study on the incidence of bladder/cloacal exstrophy and epispadias in Europe

On behalf of the European Society of Paediatric Urology (ESPU), a prospective study was designed with the aim of defining the actual number of babies born with bladder exstrophy, cloacal exstrophy, and epispadias in Europe over a 12-month period, and verifying the distribution of the exstrophy patients born during the study period among the different paediatric urology centres in Europe. The study was structured with a chief investigator and one national investigator for each country enrolled in the study. The national investigators nominated one local investigator for each European centre of paediatric surgery/paediatric urology and urology where the exstrophy complex could potentially be treated. The local investigators were responsible for reporting babies treated in their institutions for bladder/cloacal exstrophy and/or epispadias. During 2010, every 3 months, an electronic survey (Figure) was e-mailed to the local investigators asking them to report babies treated or referred for treatment during the previous 3 months. One-hundred and sixteen centres in 27 European counties were enrolled in the study. The overall response rate for the four online surveys was 79%. Two-hundred and thirty-eight babies were reported to be born with a condition within the bladder exstrophy epispadias complex (BEEC): 71 primary epispadias (66 males), 146 classic bladder exstrophy (97 males) of which two were female bladder exstrophy variant, and 21 cloacal exstrophy (17 males). Two of 67 (3%) male epispadias, 24/146 (16.4%) bladder exstrophy, and 6/21 (28%) cloacal exstrophy were antenatally diagnosed. Associated anomalies were reported in 2/71 (2.8%) epispadias patients, 8/146 (5.5%) bladder exstrophy patients, and 15/21 (71.4%) cloacal exstrophy patients. One-hundred and forty-seven (62%) of the 238 babies born in Europe with a condition within the exstrophy spectrum during 2010 were transferred from other institutions for treatment (36 male epispadias, 97 bladder exstrophy, and 14 cloacal exstrophy). Only 12 centres treated six or more exstrophy and or epispadias patients during the study period; 52 treated between one and five patients, of which 22 treated only one case in 12 months. This study provides a contemporary incidence of the BEEC in Europe. It demonstrates also that only a minority (19%) of the European centres involved in the treatment of exstrophy can be considered "high volume" exstrophy centres. There is a case for proposing a rationalisation of the treatment of this group of conditions in a small number of exstrophy units around Europe.

Sexual Health Outcomes in Adults with Complete Male Epispadias

Complete male epispadias is a rare congenital anomaly characterized by failed closure of the entire penopubic dorsal urethra. Epispadias repair is typically performed during infancy, and resultant genitourinary abnormalities can have a marked impact on adult life. We assess long-term post-reconstruction sexual health and fertility outcomes in adults with complete male epispadias. A total of 132 patients 18 years or older with complete male epispadias who had undergone reconstruction were identified from a prospectively maintained, institutionally approved database. Patients who could be contacted were asked to complete a telephone survey regarding sexual function. Reconstructive history and clinical details were obtained by chart/database review. Of 132 patients with complete male epispadias 74 met inclusion criteria and 15 (20%) completed the questionnaire. Seven patients (47%) reported currently being in a relationship. Although 12 patients (80%) reported overall satisfactory sexual intercourse, 11 (73%) admitted to 1 or more problems with sexual function, including abnormal ejaculation (53%), diminished sensation (20%) and difficulty maintaining an erection (20%). When questioned regarding the importance of fertility on a scale of 0 to 5 using a Likert-type item the response of 10 patients (67%) was 4 points or greater. Five patients (33%) reported having impregnated a sexual partner. Although 4 patients (27%) had suspicion of fertility problems, only 2 (13%) reported having abnormal semen analyses. This is one of few studies examining post-reconstruction sexual health and function in adults with complete male epispadias. Although small, our study demonstrates that patients are able to engage in relationships, participate in sexual intercourse and impregnate their partners. These results highlight sexual concerns and outcomes that may be of use when counselling patients with complete male epispadias and their families.

V10-09 ROBOT-ASSISTED LAPAROSCOPIC BLADDER NECK SLING IN MALE EPISPADIAS IN THE PEDIATRIC PATIENT

You have accessJournal of UrologyRobotics – Benign Disease1 Apr 2015V10-09 ROBOT-ASSISTED LAPAROSCOPIC BLADDER NECK SLING IN MALE EPISPADIAS IN THE PEDIATRIC PATIENT Patricia Cho, Ashley Wietsma, Richard Yu, and Marc Cendron Patricia ChoPatricia Cho More articles by this author , Ashley WietsmaAshley Wietsma More articles by this author , Richard YuRichard Yu More articles by this author , and Marc CendronMarc Cendron More articles by this author View All Author Informationhttps://doi.org/10.1016/j.juro.2015.02.2456AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookTwitterLinked InEmail INTRODUCTION AND OBJECTIVES Male epispadias represents the least severe phenotypic defect of the exstrophy-epispadias complex. Its presentation is variable, but can be associated with significant functional problems due to bladder neck incompetence. Though there are no reliable medical treatments for this condition, there are several options for surgical intervention including bladder neck sling placement. The advantage of the sling procedure is its relative straightforward application. Typically, this procedure is performed using an open approach in children. However, a robotic approach would provide advantages for access and mobility to deep pelvic structures. We aim to demonstrate the application and safety of a robotic approach to the bladder neck sling procedure in the pediatric population. METHODS A 5 year old male (23kg) with penopubic epispadias status post repair at 5 months of age was found to have persistent urinary incontinence for >1 year. Voiding cystourethrogram was performed and demonstrated bladder neck incompetence. The patient underwent robot-assisted laparoscopic bladder neck sling placement, utilizing dorsal lithotomy positioning and two working ports with a single assistant port. A suprapubic tube (SPT) was placed at the time of the procedure. Clamp trials were started 2 weeks post-operatively and the SPT was removed 4 weeks post-operatively after documentation of adequate voiding and bladder emptying. RESULTS There were no immediate complications to the procedure, and operative time was 3.5 hours. The patient was discharged to home on post-operative day 4. In the 6 months following surgery, the patient reported subjective improvement in urinary incontinence with increased dry intervals and quality of life. CONCLUSIONS The robot-assisted laparoscopic sling procedure appears to be safe and technically feasible in small children. This procedure provides a good option for managing bladder neck incompetence in pediatric males with epispadias. This use of the robotic approach demonstrates versatility, as this can be applied to other bladder neck or deep pelvic procedures in pediatric patients. Long-term studies will be needed to validate this technique and to assess durability of symptom improvement. © 2015 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetails Volume 193Issue 4SApril 2015Page: e847 Advertisement Copyright & Permissions© 2015 by American Urological Association Education and Research, Inc.MetricsAuthor Information Patricia Cho More articles by this author Ashley Wietsma More articles by this author Richard Yu More articles by this author Marc Cendron More articles by this author Expand All Advertisement Advertisement PDF downloadLoading ...

The surgical management of male epispadias in the new millennium.

Male epispadias is a rare and challenging urologic condition. As part of the epispadias-exstrophy complex of genitourinary anomalies, it covers a broad spectrum with the mildest forms being the rarest. The anatomic classification into glanular, penile, and penopubic is based on the location of the urethral meatus. However, this classification fails to include some of the suprapubic malformations that may be present such as pubic diastasis, bladder neck abnormalities, and vesicoureteral reflux. Careful preoperative evaluation should allow the identification of these anomalies and will help achieve the goals of surgical reconstruction. These goals include cosmetic and functional reconstruction of the penis and urethra as well as, when needed, creation of a continence mechanism that will allow for normal bladder function, storage, and evacuation of urine. This review will focus on: 1) the preoperative evaluation and management of male patients with epispadias and 2) surgical management based on the anatomic classification.

Sexual health in complete male epispadias (CME) patients

We provide the first long-term followup on sexual function in post-reconstruction CME patients. We administered a sexual-health telephone survey to CME patients who underwent reconstructive surgery at our institution. We screened a prospective institutional database of 1216 exstrophy-epispadias patients for CME patients currently ≥18 years of age who underwent reconstruction since 1969. Patients who could be contacted were asked to complete a phone survey regarding sexual function. Reconstructive history and clinical details were obtained by chart/database review. Patient-perceived importance of fertility was assessed using a five-point Likert-like scale (1 = least important, 5 = most important). Descriptive data is presented as median (range). Of 132 CME patients, 74 met inclusion criteria, and 14 (19%) completed the telephone questionnaire (Table 1). Of the 14 patients, 50% reported currently being in a relationship. Although 86% reported satisfactory sexual intercourse, 71% of patients admitted to problems with sexual function including unsatisfactory/difficulty ejaculating (50%), diminished sensation (21%), and difficulty maintaining an erection (21%). When questioned regarding the importance of fertility, 71% of patients responded with ≥4. Five patients reported having impregnated a sexual partner. Although four patients described suspicions of fertility problems, only two had confirmed abnormal semen analysis findings.Tabled 1Patient Demographics and ResultsAge at First Repair1.5 years (1–14)Current Age30.5 years (20–58)1° Epispadias Repair Type: Young/Cantwell-Ransley8 (57%) /6 (43%)Pts Requiring Second Epispadias Repair3 (21%)Pts Requiring Bladder Neck Reconstruction13 (93%)Continent via Urethra/Continent via Stoma/Incontinent10 (71%) /2 (14%) /2 (14%)Length of Follow-Up19 years (7–41)Relationship Status: Single7 (50%)Partner/Engaged2 (14%)Married5 (36%)Engage in Regular Sexual Intercourse11 (79%)Satisfactory Sexual Intercourse12 (86%)Issues Regarding Sexual Intercourse10 (71%)Fertility Importance: ≥410 (71%)≤34 (29%)Impregnated Partner (Natural/ART)5 (3/2)Suspected Fertility Issue4 (29%)Abnormal Semen Test2/4 (50%) Open table in a new tab To the best of the authors’ knowledge, this is the first report on sexual health in post-reconstruction CME. Patients are able to engage in relationships, enjoy sexual intercourse, and sometimes impregnate their partners. Still, these results highlight sexual concerns and issues that can aid in counseling CME patients.

COMPLETE PENILE DISASSEMBLY FOR ISOLATED EPISPADIAS REPAIR WITH MITCHELL-CAIONE TECHNIQUE: TWO CASES

Isolated male epispadias defect is present in 10% of cases of epispadias-exstrophy complex. Many surgical technique have been described for repair of male epispadias. The aim of surgical repair is to get cosmetically acceptable and functional penis with a ventrally located urethra opening at the tip of the glans and moreover to give the patient a urinary continence. Surgical repair of epispadias malformation remains debatable as evident by the different techniques adopted. We present two cases of our experience where we used the complete penile disassembly tecnique by Mitchell-Caione in wich we acts on the voluntary control of urination by the reapproximation of the muscular plane of pelvic diaphragm and elevator muscle around the posterior urethra reconstructed. Epispadias repairs was performed on two incontinent male epispadias patient, aged 2 to 3 years. Both cases were untreated. Complete disassembly of penil components was performed to the corporal attachments down to the horizontal branches of pubic bones. The corporal bodies and the glans were split on the sagittal plane according to Grady-Mitchell. The central portion of the urethral plate was preserved intact. An electric stimulator was used to identify and reapproximate at the midline the muscular fibers that constitute the periurethral muscular complex, as a part of the anterior perineal membrane. “Z plasties” were necessary according to initial urethral length and width: the urethra was reconstructed over a double catheters, using 5/0 polyglicolic acid interrupted sutures in a single layer. In one patient we sutured symphisis pubis opened precedently, using 1/0 polyglicolic acid. The urethra was placed ventrally in the reconstructed shaft under the two corpora as Mitchell technique. Glanduloplasty was then performed. Patients were followed up for one month (June 2012). The penis of the two patients had a satisfactory cosmetic appearance with no dorsal chordee. Morover, our patients obtained urinary continence. The limitation of our study was the low follow-up. The electric stimulator used to identify pelvic muscle components in the sagittal plane for reapproximate the posterior tabularized urethra to form the periurethral muscle complex and the “Z-plasties” that elongated the urethra significantly.This procedure seems to be satisfactory for the repair of cases of isolated male epispadias because we have good results in cosmetic appearance and in urinary continence. Our study is a preliminary report and a longer follow-up with a larger number of cases is needed to document further the success of the procedure.

COMPLETE PENILE DISASSEMBLY FOR ISOLATED EPISPADIAS REPAIR WITH MITCHELL-CAIONE TECHNIQUE: TWO CASES

Isolated male epispadias defect is present in 10% of cases of epispadias-exstrophy complex. Many surgical technique have been described for repair of male epispadias. The aim of surgical repair is to get cosmetically acceptable and functional penis with a ventrally located urethra opening at the tip of the glans and moreover to give the patient a urinary continence. Surgical repair of epispadias malformation remains debatable as evident by the different techniques adopted. We present two cases of our experience where we used the complete penile disassembly tecnique by Mitchell-Caione in wich we acts on the voluntary control of urination by the reapproximation of the muscular plane of pelvic diaphragm and elevator muscle around the posterior urethra reconstructed. Epispadias repairs was performed on two incontinent male epispadias patient, aged 2 to 3 years. Both cases were untreated. Complete disassembly of penil components was performed to the corporal attachments down to the horizontal branches of pubic bones. The corporal bodies and the glans were split on the sagittal plane according to Grady-Mitchell. The central portion of the urethral plate was preserved intact. An electric stimulator was used to identify and reapproximate at the midline the muscular fibers that constitute the periurethral muscular complex, as a part of the anterior perineal membrane. “Z plasties” were necessary according to initial urethral length and width: the urethra was reconstructed over a double catheters, using 5/0 polyglicolic acid interrupted sutures in a single layer. In one patient we sutured symphisis pubis opened precedently, using 1/0 polyglicolic acid. The urethra was placed ventrally in the reconstructed shaft under the two corpora as Mitchell technique. Glanduloplasty was then performed. Patients were followed up for one month (June 2012). The penis of the two patients had a satisfactory cosmetic appearance with no dorsal chordee. Morover, our patients obtained urinary continence. The limitation of our study was the low follow-up. The electric stimulator used to identify pelvic muscle components in the sagittal plane for reapproximate the posterior tabularized urethra to form the periurethral muscle complex and the “Z-plasties” that elongated the urethra significantly.This procedure seems to be satisfactory for the repair of cases of isolated male epispadias because we have good results in cosmetic appearance and in urinary continence. Our study is a preliminary report and a longer follow-up with a larger number of cases is needed to document further the success of the procedure.

Penile Repair in Patients with Epispadias-Exstrophy Complex—Can we Prevent Resultant Hypospadias?

Male genitalia reconstruction in patients with exstrophy-epispadias complex often leads to secondary hypospadias, thus requiring additional surgery and resulting in possible complications. We describe a technique of male epispadias repair to prevent resultant hypospadias. The complete penile disassembly technique is modified by multiple Z-plasties, which enable creation of a funnel-like bladder neck and urethral plate lengthening. A total of 29 patients 2 months to 12 years old presenting with pure epispadias and bladder exstrophy were treated with this technique between 2004 and 2011. These patients were compared to 19 patients 1 day to 11 years old with exstrophy-epispadias treated with the standard penile disassembly technique between 2000 and 2004. Outcome measures were urethral orifice position, penile length and complications. There was no statistically significant difference between the 2 groups regarding penile length or complications. In the study group the urethra reached the tip of the glans in all patients, whereas the creation of intentional hypospadias was necessary in 6 patients (31.5%) in the control group (p <0.05). The modified technique was effective in obtaining appropriate meatal location without decreasing the penile length. The complication rate was not changed. Creation of resultant hypospadias at genitalia reconstruction in male epispadias should strongly be prevented.

1616 CHROMOSOME 13Q A SUSCEPTIBILITY LOCUS FOR EPISPADIAS

You have accessJournal of UrologyPediatrics: Congenital Anomalies - Lower Urinary Tract & Genitalia II1 Apr 20121616 CHROMOSOME 13Q A SUSCEPTIBILITY LOCUS FOR EPISPADIAS Carolina Jorgez, Shelly Bian, Venkata Vangapandu, Aysegul Sahin, and Dolores Lamb Carolina JorgezCarolina Jorgez Houston, TX More articles by this author , Shelly BianShelly Bian Houston, TX More articles by this author , Venkata VangapanduVenkata Vangapandu Houston, TX More articles by this author , Aysegul SahinAysegul Sahin Houston, TX More articles by this author , and Dolores LambDolores Lamb Houston, TX More articles by this author View All Author Informationhttps://doi.org/10.1016/j.juro.2012.02.1411AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookTwitterLinked InEmail INTRODUCTION AND OBJECTIVES Epispadias is a rare congenital urological defect with an incidence of 1:150.000 characterized by incomplete dorsal tubularization of the urethral plate. Male epispadias is usually diagnosed at birth. In females, however, epispadias may only be diagnosed as a result of persistent incontinence. The majority of cases are sporadic, with a normal karyotype and unknown etiology, though epidemiologic data suggest a strong genetic component. Our aim is to identify candidate genes responsible for epispadias using array comparative genomic hybridization (aCGH). METHODS Genomic DNA from 6 male epispadia patients was analyzed using 3x720K aCGH from NimbleGen. Each copy number variation (CNV) identified by aCGH was validated by using Taqman QPCR. Sanger DNA sequencing of selected genes was performed to identify single nucleotide polymorphisms (SNPs). RESULTS At least one CNV was identified in all patients, with 50% having two CNVs. Of the 9 CNVs identified, 78% were microdeletions that included chromosomal regions (genes) 2p13.1 (NAT8), 2q36.3 (FBX036), 6q15 (RNGTT), 13q14.2 (SUCLA2), 13q32.1 (HS6ST3), 20q11.21 (SNTA1) and 20q13.13 (PTGIS). Microduplications were observed at 8q22.1 (UQCRB) and 13q21.32 (PCDH9). CNV inheritance occurred in 44% of the cases. Interestingly, a microdeletion involving SUCLA2 and a microduplication involving PCDH9 were observed in two brothers, one with epispadias and the other with hypospadias. Of note, both genes are located in chromosomal region 13q. The CNV in SUCLA2 was paternally inherited, and 2 SNPs, 37L®W and 143K®K, were identified with maternal inheritance. Their normal sister did not inherit either the CNVs or the SNPs. SUCLA2 is a mitochondrial enzyme expressed in several mouse and human tissues including kidney and muscle. We found SUCLA2 expressed in the embryonic urethra and ureter. CONCLUSIONS Nine new CNV regions were identified in men with epispadias with 33% of these located on chromosome 13q that include SUCLA2 a promising candidate. SUCLA2 mutations result in respiratory chain complex I disease, which is associated with a mitochondrial DNA depletion syndrome involving hypotonia, muscular atrophy, and in few cases hypospadias. Likewise, a defect in TMEM70, another mitochondrial enzyme, results in respiratory chain complex V disease with cardiomyopathy and hypospadias present in the majority of the cases. These data suggest that mitochondrial genes may play a role in the GU tract development. © 2012 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetails Volume 187Issue 4SApril 2012Page: e653-e654 Advertisement Copyright & Permissions© 2012 by American Urological Association Education and Research, Inc.MetricsAuthor Information Carolina Jorgez Houston, TX More articles by this author Shelly Bian Houston, TX More articles by this author Venkata Vangapandu Houston, TX More articles by this author Aysegul Sahin Houston, TX More articles by this author Dolores Lamb Houston, TX More articles by this author Expand All Advertisement Advertisement PDF downloadLoading ...

Pathophysiology and Management of Urinary Incontinence in Case of Distal Penile Epispadias

We evaluated boys with distal epispadias and urinary incontinence to determine the cause, and designed a simplified bladder neck reconstruction to restore urinary continence. Six boys with epispadias of the glans or distal penile shaft whose incontinence persisted after successful single stage epispadias repair were evaluated with cystoscopy and urodynamics after failed attempts at toilet training. Surgical management--simplified bladder neck reconstruction--involved suprapubic excision of an identified deformity of the roof of the bladder neck and posterior urethra, followed by reapproximation of the remaining normal bladder neck and posterior urethral tissues. All boys displayed a characteristic deformity of the roof of the bladder neck and posterior urethra, which extended distally through the membranous urethral sphincter toward the urethral meatus. Five of the 6 boys were treated surgically, and promptly achieved normal continence and urinary control that remained durable through a mean followup of 9.6 years. Histologically, the roof deformity exhibited abnormalities including attenuation and reduction of smooth muscle. The meatus is not the only site involved in distal epispadias, which presents as a field defect that deforms the roof of the urethra distal to the bladder neck. Incontinence in distal epispadias has a dual etiology, namely anatomical dilatation and distortion of the bladder neck and posterior urethra, and histological abnormality of the roof tissues. These conditions combine to affect adversely coaptive and constrictive functions of the posterior urethra and urinary sphincter. Excision and reapproximation of the roof deformity appears to be proof in principle of the cause of incontinence, and offers an alternative approach to treating incontinence in these patients without the need for more invasive surgical procedures.

Partial Penile Disassembly for Isolated Epispadias Repair

Isolated male epispadias defect is present in 10% of cases of epispadias-exstrophy complex. Surgical repair of epispadias malformation remains debatable as evident by the different techniques adopted. The current study presents our experience in partial penile disassembly for isolated epispadias repair. Epispadias repair was performed on 11 male patients aged 4 to 13 years. Two were penopubic, 6 penile, and 3 glanular. All cases were fresh. Extensive disassembly of penile components was performed to the corporal attachments down to the horizontal branches of pubic bones. The corporal bodies were separated with the urethral plate left attached to 1 corpus to preserve its blood supply. Urethral plate was tubularized and then transported from dorsal to ventral position by using corporal rotation technique. Glanuloplasty was then performed. Patients were followed up for 6 to 12 months. The penis had a satisfactory cosmetic appearance with no significant dorsal chordee. Two cases were transformed to subcoronal hypospadias, as it was difficult to bring the urethral plate to the tip of the glans because of its shortening. One child had a minute penopubic fistula that was repaired at a later stage. Partial penile disassembly technique restores the anatomic relationship of the penile components. Our repair of partial penile disassembly is a simple modification of the Mitchell technique for isolated epispadias repair.

Outcome Analysis of Isolated Male Epispadias: Single Center Experience With 33 Cases

We review our results with isolated male epispadias repair, comparing the Cantwell-Ransley and Mitchell-Bagli procedures in regard to continence status and postoperative complications. We reviewed the charts of 33 patients presenting with isolated epispadias (glanular in 3, penile in 9, penopubic in 21) between 1994 and 2005. Of the 21 patients with penopubic epispadias Cantwell-Ransley repair was performed in 14 and Mitchell-Bagli repair was done in 7. Mean patient age at epispadias repair was 16.8 months (range 12 to 24) and 19.3 months (9 to 42) for the Cantwell-Ransley and Mitchell-Bagli operations, respectively. After epispadias repair in the Mitchell-Bagli group 4 of 6 patients (67%) became continent vs 0 of 13 in the Cantwell-Ransley group (p <0.01). Bladder neck repair was performed in 11 of 13 children (85%) who underwent a Cantwell-Ransley repair. Of these 11 boys 6 became continent. Hence, 3 of the 5 patients who failed the first bladder neck repair underwent a second bladder neck repair with augmentation cystoplasty to achieve dryness (dry more than 4 hours). The other 2 patients are on clean intermittent catheterization and have 2 to 4-hour dry intervals. After undergoing a Mitchell-Bagli epispadias repair 2 patients (33%) remained incontinent and went on to receive endoscopic injection of bulking agent to become dry. Mean followup was 70 months (range 10 to 120) for Mitchell-Bagli repair and 80 months (21 to 144) for Cantwell-Ransley repair. At last followup 13 of 17 children (76%) with penopubic epispadias were completely dry or had dry intervals greater than 4 hours. Among the 21 patients 10 (48%) had complications, of whom 8 were in the Cantwell-Ransley group (57%) and 2 were in the Mitchell-Bagli group (29%). Similar urinary continence rates can be achieved for male penopubic epispadias with both surgical techniques, at the expense of more bladder neck repairs following the Cantwell-Ransley procedure.

Anterior Perineal Reconstruction in Exstrophy-epispadias Complex

Objectives: To assess the role of correct anatomical reconfiguration of the anterior perineal musculature in exstrophy-epispadias (E-E) patients. To stress the use of a bipolar stimulator to detect the perineal muscular complex intraoperatively, and to increase the functional results of reconstruction in E-E patients. Methods: A total of 22 patients with E-E complex were treated in a 7-year period: 17 patients presenting classic bladder extrophy (aged 3 days to 6 years) and 5 incontinent male epispadias (aged 9 months to 16 years). An electric bipolar stimulator was used to identify and reapproximate at the midline the muscular fibers that constitute the periurethral muscular complex, as a part of the anterior perineal membrane. Outcome was evaluated at 24 months from surgery, considering bladder capacity, dry intervals, urinary infections (UTI's), upper tract deterioration and surgical complications (fistula, obstruction, dehiscence). Results were compared with a matched group of 19 E-E patients treated in the previous 5-year period, without the presented technique (control group). Student T-test was used for statistical analysis, considering p ≤ 0.05 as significant. Results: No bladder neck or urethral dehiscence was observed. Mean bladder capacity at 2-year follow-up was 80 cc in the exstrophic patients and 120 cc in the male epispadias. Mean dry interval increased to 75 minutes in the exstrophy patients and to 130 minutes in the male epispadias. Full daytime continence was achieved in 3 exstrophic and in all the epispadic patients. The difference with the control group of patients was significant ( p < 0.05). Conclusions: Proper identification of the anterior perineal muscular complex, using a bipolar stimulator, and its reapproximation at the posterior urethra on the midline was demonstrated to be effective in increasing bladder cycling and in developing adequate bladder volume, anticipating coordinated micturition.

Continent Urinary Diversion and the Exstrophy-Epispadias Complex

The use of continent urinary reservoirs has gained wide acceptance, particularly in urinary reconstruction in children with a small capacity or neuropathic bladder. When augmentation cystoplasty is combined with clean intermittent catheterization, patients are often able to achieve continence with low intravesical filling pressures and renal preservation. Often this approach requires fashioning a continent cutaneous stoma, which remains the most challenging aspect of continent urinary reservoirs. We analyzed our experience with continent diversion in patients with exstrophy-epispadias to determine complications and long-term results. We performed a retrospective database review of 704 cases of exstrophy-epispadias. Medical records were then used to identify those patients who had undergone creation of a continent urinary reservoir. Charts were reviewed to determine initial diagnosis, augmentation technique, continence mechanism, age, preoperative and postoperative bladder capacity, continence status and complications. Of the 91 patients identified (68 male, 23 female) who had undergone continent urinary diversion classic bladder exstrophy was present in 80, cloacal exstrophy in 8, complete male epispadias in 2 and female epispadias in 1. The most common techniques for augmentation and continent diversion were ileocystoplasty (41 patients [45%]) and sigmoid cystoplasty (30 [33%]), respectively. Appendix was used in 67 patients (74%) and variants of the Mitrofanoff procedure using segments of tapered ileum or ureter were used to create a continent stoma in 10 (11%). Bladder neck transection was performed in 59 patients (65%). Mean age at augmentation and continent diversion was 8 years (range 2 to 25), with a mean preoperative bladder capacity of 77 cc (15 to 220). Mean followup was 6 years (range 6 months to 12 years). Of the 91 patients 85 (93%) were continent with clean intermittent catheterization per stoma. Of these 85 patients 13 required anticholinergics and alpha-agonists to achieve continence. Six patients (7%) were incontinent after the procedure. Analysis of bladder capacity measurements after augmentation and continent diversion revealed that mean postoperative volume and mean volume increase were 404 cc (range 250 to 640) and 524%, respectively. The most common complications were bladder stone formation (24 patients [26%]) and stomal stenosis (21 [23%]). Bladder stones recurred in 9 patients and stomal stenosis in 3. Other less common complications were vesicourethral fistula (3 patients) and a small bladder perforation (2). Augmentation and continent diversion procedures can increase the functional capacity of the small contracted noncompliant exstrophic bladder, and allow the vast majority of patients to achieve continence and preserve renal function. Bladder calculi and stomal stenosis pose the most significant long-term complications in these patients.

Combined bladder neck reconstruction and epispadias repair for exstrophy-epispadias complex.

The achievement of satisfactory continence in the management of classic bladder exstrophy remains a surgical challenge. During the last 20 years a staged approach to the management of the exstrophy-epispadias complex has been used at many exstrophy centers to attain this goal. In select cases repairs can be combined to reduce the number of mandatory operations to achieve continence. We retrospectively review our experience with, and long-term results and complications of combined bladder neck reconstruction and epispadias repair. A total of 19 boys with classic bladder exstrophy (17) and complete male epispadias (2) underwent combined bladder neck reconstruction and epispadias repair between 1982 and 1999. Primary closure was performed elsewhere in 16 cases and osteotomy was performed at primary closure in 8 (42%). All patients have undergone modified Cantwell-Ransley epispadias repair except for 2 who underwent a Young procedure. At the time of combined bladder neck and epispadias repair mean patient age was 5.2 years (range 2.5 to 10). Mean bladder capacity was 119 ml. (range 60 to 250). Of the 19 patients 13 (69%) are completely continent, and 2 (11%) are partially continent and 1 remained incontinent. Three patients did not gain satisfactory functional bladder capacity after combined repair, and underwent bladder augmentation and a continent diversion procedures. Combined bladder neck and epispadias repair is applicable in experienced hands but careful patient selection and long-term followup are the most important issues to develop criteria to select those best to undergo this procedure.

COMBINED BLADDER NECK RECONSTRUCTION AND EPISPADIAS REPAIR FOR EXSTROPHY-EPISPADIAS COMPLEX

The achievement of satisfactory continence in the management of classic bladder exstrophy remains a surgical challenge. During the last 20 years a staged approach to the management of the exstrophy-epispadias complex has been used at many exstrophy centers to attain this goal. In select cases repairs can be combined to reduce the number of mandatory operations to achieve continence. We retrospectively review our experience with, and long-term results and complications of combined bladder neck reconstruction and epispadias repair. A total of 19 boys with classic bladder exstrophy (17) and complete male epispadias (2) underwent combined bladder neck reconstruction and epispadias repair between 1982 and 1999. Primary closure was performed elsewhere in 16 cases and osteotomy was performed at primary closure in 8 (42%). All patients have undergone modified Cantwell-Ransley epispadias repair except for 2 who underwent a Young procedure. At the time of combined bladder neck and epispadias repair mean patient age was 5.2 years (range 2.5 to 10). Mean bladder capacity was 119 ml. (range 60 to 250). Of the 19 patients 13 (69%) are completely continent, and 2 (11%) are partially continent and 1 remained incontinent. Three patients did not gain satisfactory functional bladder capacity after combined repair, and underwent bladder augmentation and a continent diversion procedures. Combined bladder neck and epispadias repair is applicable in experienced hands but careful patient selection and long-term followup are the most important issues to develop criteria to select those best to undergo this procedure.