Three-dimensional Computed Tomography Scan of the Pelvic Bone in Isolated Epispadias: Analysis Before Surgical Correction.

OBJECTIVE: To determine intrapelvic angles and distances in pure epispadias patients and compare them to normal values. METHODS: Using three-dimensional computed tomography, 17 intrapelvic dimensions (8 angles and 9 distances) were measured in 26 patients with pure epispadias (21 boys and 5 girls). These values were compared to normal values obtained from 6 patients (5 boys and 1 girl) who underwent either pelvic or abdominopelvic computed tomography for purposes unrelated to their bony pelvis. RESULTS: Significant differences were observed in five angles (sacroiliac joint angle, S1 tilt angle, sacral curvature, superior-inferior rotation of the pelvis, and pubococcygeal angle; P-value=.016, .044, .011, .020, and .001, respectively); these show less sacral rotation toward the axial plane, more sacral curvature, inferior rotation of the pelvis, and sacroiliac joints' rotation toward the coronal plane in epispadias compared to controls. Also, two distances (pubic diastasis and anterior segment length of the pelvis; P-value=.002 and .012, respectively) had significant differences, showing wider pubic diastasis and shorter anterior segment in epispadias. However, the differences between other intrapelvic angles and distances were not statistically significant between the two groups. CONCLUSION: In addition to the explanations hypothesized for the embryology of the exstrophy-epispadias complex, there can be other etiologies for both epispadias and bladder exstrophy to explain the differences between bony anatomies of the pelvis in these patients.

Pelvic Floor Anatomical Variations in Children With Exstrophy-Epispadias Complex Using Magnetic Resonance Imaging.

OBJECTIVE: To quantitatively measure the anatomical variations of the pelvic floor in children with exstrophy-epispadias complex using magnetic resonance imaging. MATERIALS AND METHODS: Six cases of classic bladder exstrophy (CBE), 5 cases of penile epispadias (PE) and 11 cases of penopubic epispadias (PPE) were included. Another 8 cases with the testicular tumor were taken as the controls. A series of measurements obtained from the pelvic floor magnetic resonance imaging were analyzed, and the measurements with significant differences were obtained by ANOVA. RESULTS: The pelvic floor of the CBE was significantly different from that of controls in measurements including wider pubic diastasis (P <.001), greater posterior anal distance (P = .019), greater posterior bladder neck distance (P = .004), larger iliac wing angle (P <.001), diminutive ischial angle (P <.001), bigger puborectalis angle (P <.001), larger ileococcygeous angle (P = .002) and shortened anterior corporal length (P <.001). For the PE, the posterior bladder neck distance (P = .038) was greater than that of controls. In the PPE, the posterior bladder neck distance (P = .001) and puborectalis angle (P = .026) was greater than that of controls, respectively. CONCLUSION: CBE shows severe anatomical variations of the pelvic floor. The bladder neck moves more anteriorly both in PE and PPE than the control. The enlarged puborectalis angle resulting from wider pubic diastasis and more anterior position of the anorectal canal is also noticed in PPE.

Urethral duplication in male epispadias: a very uncommon association.

BACKGROUND: Urethral duplication associated with epispadias is a rare malformation. Few cases are described in Literature. We report the experience of two centers to add to the literature. METHODS: A retrospective study was conducted in two Italian Centers. All patients with urethral duplication associated with epispadias, treated from 1997 to 2017 were included. The preoperative work-up included renal-urinary ultrasonography and voiding cystourethrogram. All patients underwent surgery according to the Mitchell-Caione technique. Cosmetic result, urinary continence and satisfaction degree of patients at the last follow-up were evaluated as outcomes. Six male patients with urethral duplication in epispadias were included. Two patients presented penile epispadias and four penopubic epispadias. Only one patient had urinary incontinence as presenting symptomatology. The diagnosis of urethral duplication was accidental during preoperative evaluation in the remaining five patients. RESULTS: At last follow-up (mean 8.3 years) all patients but one presented good cosmetic result, one patient presented mild stress urinary incontinence, one presented nocturnal enuresis. The physical genital appearance was improved in all patients. Urethral duplication in association with epispadias is a rare urogenital abnormality. No classification is universally accepted. CONCLUSIONS: Based on our experience, we believe that the presence of any duplication should be carefully searched during surgery for male epispadias.

Anatomy of Classic Bladder Exstrophy: MRI Findings and Surgical Correlation.

PURPOSE OF REVIEW: The exstrophy-epispadias complex (EEC) represents a group of congenitally acquired malformations involving the musculoskeletal, gastrointestinal, and genitourinary systems. Classic bladder exstrophy (CBE) is the most common and best studied entity within the EEC. In this review, imaging features of CBE anatomy will be presented with surgical correlation. RECENT FINDINGS: Magnetic resonance imaging (MRI) has emerged as a useful modality for pre- and postnatal assessment of the abdominal wall, pelvic floor, and gastrointestinal and genitourinary systems of children with CBE. The authors' experience supports use of preoperative MRI, in conjunction with navigational software, as a method for identifying complex CBE anatomy. Imaging facilitates surgical approach and improves visualization of complex anatomy, potentially helping to avoid complications. Continued investigation of imaging guidance in CBE repair is needed as surgical techniques improve.

Urethral duplication in girls: Three cases associating an accessory epispadiac urethra and a main hypospadiac urethra.

INTRODUCTION: Urethral duplication is extremely rare in girls, with less than 40 cases reported so far. Most of them present as a prepubic sinus. Literature is scare regarding aetiology, classification and management in other forms. This study presents three cases of sagittal urethral duplication in girls presenting a main hypospadiac urethra and an accessory epispadiac urethra. PATIENTS AND METHODS: Medical records were retrospectively reviewed of three girls with urethral duplication managed over a 30-year period at a single institution. Circumstances of diagnosis, management and outcomes were analysed. RESULTS: The oldest case presented as a neonatal retrovesical mass with an accessory clitoral stream, whereas the two more recent cases presented with antenatal hydrocolpos and bilateral ureterohydronephrosis. Cases 1 and 3 had an incomplete duplication, while Case 2 had a complete form. In Case 3, the duplication was associated with a urogenital sinus and an anteriorly placed anus. Management involved resection of the epispadiac accessory urethra to achieve continence, with dilatation and/or mobilisation of the hypospadiac one. All girls are now aged >5 years old and are continent, and one is old enough to have normal menstruation. Renal function is normal in all. The summary table presents the schematic anatomical description as shown on micturating cystourethrogram and endoscopy, as well as the management for each patient. DISCUSSION: Step-by-step management is necessary in urethral duplication. The neonatal emergency is to release the urinary tract compression by evacuating urinary retention or hydrocolpos. Later in infancy, decision has to be taken regarding the urethras. If the resection of the epispadiac accessory urethra seems acceptable to achieve continence, the attitude towards the hypospadiac channel is more controversial and should be individualised. Embryologic and aetiopathogenic pathways are still missing to uniformly characterise the malformation. CONCLUSION: Paediatric urologists should remember that there is a wide spectrum of urethral duplication in girls, and that various presentations exist beside the more classic prepubic sinus.

Bladder exstrophy-epispadias complex and triple-X syndrome: incidental finding or causality?

BACKGROUND: Bladder exstrophy is a rare malformation. Prenatal diagnosis is usually an incidental finding on routine ultrasound examination. Triple-X syndrome (karyotype 47,XXX) is the most frequent sex chromosome aneuploidy in live-born females (approximately 1 in 1000). The diagnosis is often not made because women with 47,XXX karyotype have no or hardly any clinical symptoms during life. METHODS: Prenatal diagnosis of triple X karyotype is usually an incidental finding when an invasive prenatal diagnosis is performed for other reasons. RESULTS: Here, we report on two cases with bladder exstrophy and triple-X syndrome, one in a fetus and one in an adult. In view of two previous reports of this association in literature, causality of these two conditions should be considered. CONCLUSION: A gene dosage effect as possible underlying mechanisms will be discussed.

Register based study of bladder exstrophy-epispadias complex: prevalence, associated anomalies, prenatal diagnosis and survival.

PURPOSE: We describe the prevalence, associated anomalies, prenatal diagnosis and survival of patients with bladder exstrophy-epispadias complex. MATERIALS AND METHODS: Data were extracted from the Northern Congenital Abnormality Survey for patients delivered during 1985 to 2008. This survey collects data on congenital anomalies in fetuses, stillbirths and live-born infants of mothers residing in Northern England (Northumberland, North Cumbria, Tyne and Wear Durham, Darlington and Teesside). RESULTS: A total of 43 cases were identified from 824,368 registered births for a total prevalence of 5.22 per 100,000 (95% CI 3.77-7.03). Excluding 1 twin with cloacal exstrophy, 42 cases occurred in singleton pregnancies. A total of 29 cases (69%) were isolated and 13 (31%) were associated with other anomalies, of which 11 (26%) were other structural and 2 (5%) were chromosomal. Male-to-female ratio was 2.2:1 for all singleton cases and 1.4:1 for isolated cases. Total prevalence of bladder exstrophy-epispadias complex singleton cases was 5.10 per 100,000 registered births (95% CI 3.67-6.89) and overall live birth prevalence was 4.63 per 100,000 live births (95% CI 3.28-6.36). Total prevalence of isolated cases of bladder exstrophy-epispadias complex was 3.52 per 100,000 births (95% CI 2.36-5.05) and live birth prevalence was 3.29 per 100,000 (95% CI 2.17-4.79). Accuracy of prenatal diagnosis was low, with 4 cases (10%) being detected prenatally by routine ultrasound (bladder exstrophy in 3, cloacal exstrophy in 1). Overall survival of all infants at 1 year was 95%. CONCLUSIONS: This population based study demonstrates a prevalence rate similar to other studies, a low prenatal diagnosis rate and high survival.

Classic bladder exstrophy: orthopaedic surgical considerations.

Classic bladder exstrophy is an embryologic malformation that results in complex deficiency of the anterior midline, with urogenital and skeletal manifestations. Urogenital reconstruction is a challenging procedure that can be facilitated by closure of the bony pelvic ring by an orthopaedic team. Surgical options include a multiyear staged approach and the single-stage complete repair for exstrophy. The goals of urologic surgery include closure of the bladder and abdominal wall with eventual bladder continence, preservation of renal function, and cosmetic and functional reconstruction of the genitalia. Pelvic osteotomy is done at the time of bladder closure in the patient in whom the anterior pelvis cannot be approximated without tension. Traction or spica casting is used postoperatively. Good outcomes are probable with appropriate management at specialized treatment centers.

[Urethral diverticulum with stone complicating epispadias repair]. / Réparation d'un épispadias compliquée d'un diverticule de l'urètre avec calcul.

Diverticula of the male urethra are rare clinical entities. Congenital and acquired have similar modes of presentation. No case of urethral diverticulum, containing stone, complicating epispadias repair have been reported. We report the case of 8-year-old boy with an urethral diverticulum, containing stone, complicating epispadias repair. Diverticulectomy with removal of the stone by urethroplasty was performed. Through this observation and review of the literature, authors describe pathological and management finding of urethral diverticula.

Pelvic-floor imaging using three-dimensional ultrasonography and magnetic resonance imaging in the long term follow-up of the bladder-exstrophy-epispadias complex.

OBJECTIVE: To investigate whether established pelvic floor variables can be used to predict the risk of uterine prolapse after surgery and to compare two different operative strategies, pelvic adaptation with functional reconstruction and an open pelvis with urinary diversion, as a congenital bony pelvis and pelvic floor defect predisposes females with bladder-exstrophy-epispadias complex (BEEC) to uterine prolapse. PATIENTS, SUBJECTS AND METHODS: We conducted a cross-sectional study using perineal three-dimensional ultrasonography (3D-US) and magnetic resonance imaging (MRI) to describe pelvic floor anatomy in 19 women with BEEC (mean age 27.3 years) and five controls, with the outcome evaluated by a semi-structured interview. The analysis of 3D-US and MRI was conducted by two independent investigators. RESULTS: Of the 19 women with BEEC, 13 initially had a functional bladder reconstruction, six a urinary diversion with removal of the exstrophic bladder, and 12 women had closure of the pelvis either by traction bandage or osteotomy, and in the other seven the symphysis was not approximated. Four patients had a complete and one a mild uterine prolapse. After a mean follow-up of 24 years, the mean symphyseal diastasis was 4.5 cm after symphyseal approximation, 9.0 cm without symphyseal approximation in BEEC and 0.49 cm in controls. The mean levator hiatus was 4.9 cm on 3D-US and 4.1 cm on MRI after symphyseal approximation, 5.9 and 7.6 cm without symphyseal approximation and 4.2 and 3.2 cm in controls, respectively. The respective mean levator angle was 86.6 degrees and 87.3 degrees after symphyseal approximation, 104.1 degrees and 101.3 degrees without and 71.3 degrees and 45.5 in controls. Prolapse was statistically significantly more common in patients with no symphyseal approximation. CONCLUSION: This is the first study showing that perineal 3D-US is useful for pelvic floor imaging in BEEC. Established pelvic floor variables might be useful for predicting the risk of pelvic organ prolapse in BEEC.

Biometry of the pubovisceral muscle and levator hiatus assessed by three-dimensional ultrasound in females with bladder exstrophy-epispadias complex after functional reconstruction.

OBJECTIVE: The congenital bony and musculoskeletal defect of the pelvis in bladder exstrophy-epispadias complex (BEEC) highly predisposes females to uterine prolapse. There is a paucity of knowledge on the anatomy of the pelvic soft tissue structures following surgery. The aim of this study was to investigate with transperineal three-dimensional (3D) ultrasound the pubovisceral muscle in females with BEEC who had undergone surgical reconstruction in childhood. METHODS: In a cross-sectional observational study we examined 12 Caucasian female BEEC patients, mean age 19.9 (range, 15.5-27.4) years, from a single center after a single-stage functional reconstruction with closure of the anterior pelvic ring. As a control group we used 13 Caucasian nulligravidae. 3D transperineal ultrasound volumes were acquired with the patient at rest in the supine position and with an empty bladder, and established pelvic floor parameters were measured. Analysis was conducted offline by two independent investigators. RESULTS: No statistical difference between the BEEC patients and the control group was observed in the anteroposterior diameter or the area of the levator hiatus, or in the maximal thickness of the levator muscle. However, significantly greater values were observed in BEEC patients in the transverse diameter of the levator hiatus (mean, 4.31 vs. 3.81 cm, P = 0.046) and in the levator angle (mean, 80.1 vs. 70.0 degrees, P = 0.040). The measurements obtained in the control group were consistent with those previously reported in the literature. CONCLUSIONS: This is the first study showing that transperineal 3D ultrasound can be used for the assessment of BEEC patients after functional reconstruction. Biometric pelvic floor parameters may be useful in the long-term follow-up of BEEC patients.

[Complete urethral duplication with dorsal epispadiac urethra: case report]. / Komplette Urethra duplex mit epispader dorsaler Harnröhre : Ein Fallbericht.

Urethral duplication is a rare congenital anomaly with variable clinical presentation. A number of theories have been proposed to describe the embryology of the condition; the actual mechanism of the disorder is still unclear. We present a 2-year-old boy with complete urethral duplication and two functional sphincters. Functional and surgical results were satisfying with good continence.

The use of refluxing ureter in the creation of a Mitrofanoff channel in children undergoing bladder augmentation: is a formal reimplantation necessary?

To study the fate of a refluxing ureteral stump used as a Mitrofanoff channel (MC) for clean intermittent catheterization (CIC), without reimplantation in augmented bladders. Ten boys and seven girls, 1-14 years old (mean 6.5 years) seen in period 1998-2005, underwent creation of MC using refluxing or potentially refluxing ureters. Concomitant bladder augmentation (BA) was performed for various abnormalities of lower urinary tract, including exstrophy epispadias complex, neurogenic bladder cloaca and posterior urethral valve. The uretero-vesical junction was maintained intact during creation of the MC. Follow-up period ranged from 2-72 months (mean 32.5 months). Satisfactory CIC was possible in 14 children while in two children the stoma became obstructed due to non-usage. Urinary leak via the ureteric MC was seen in only one patient who partially responded to anticholinergic therapy and a shortened CIC interval but this needed to be formally closed subsequently. A refluxing ureter can be used in the creation of a MC without formal reimplantation in the majority of children undergoing BA.

[Urethral duplication in pediatric age. A case report]. / Duplicazione uretrale in età pediatrica. Presentazione di un caso.

Urethral duplication is a rare congenital anomaly, resulting from a wide range of malformations of the urogenital sinus. Generally, the duplication develops on the sagittal plane; the accessory urethra may run dorsally or ventrally to the orthotopic one. The duplication is defined as epispadic in the first case, and hypospadic in the second. In the medical literature approximately 150 cases have been reported. Relatively more frequent among males, it is often associated with other malformations of the urogenital tract or other organs. The authors present a case of a 4 year old child with a complete epispadic duplication, that is, two external meatus, one of which the dorsal aspect of the glans, and the other orthotopic. Clinically, duplication and weakening of the stream, urinary incontinence and UTI were present. US examination documented the normality of the upper urinary tract and of the bladder. Retrograde urethrocystography showed a completely permeable urethral duplication, with two external meatus. The excision of the accessory urethra was carried out together with the reconstruction of the hypospadic meatus with an "overlap anastomosis". The post-operatory period was uneventful, and one year after surgery the patient is asymptomatic, with normal uroflowmetric readings and echographically documented complete bladder emptying. In the opinion of the authors, the treatment is indicated in symptomatic forms and the surgical options varies, depending on the type and grade of malformation, its clinical manifestations and the presence of associated anomalies. Antibiotic treatment is not effective and other treatments, such as diathermocoagulation or the injection of caustic substances into the accessory duct have been abandoned.

A ventral rotational skin flap to improve cosmesis and avoid chordee recurrence in epispadias repair.

OBJECTIVE: To describe a technical modification that facilitates dorsal skin closure, improves cosmesis and eliminates chordee recurrence secondary to contracture of the dorsal penile skin in the repair of epispadias. PATIENTS AND METHODS: Eleven patients with penopubic epispadias (mean age 1.8 years) had the epispadias repaired using a modified ventral penile skin flap. Four patients had isolated epispadias and seven had had a previous primary closure of bladder exstrophy. Nine patients underwent the Cantwell-Ransley technique, leaving the meatus in a glanular position. Two patients were repaired using the penile disassembly technique of Mitchell and Bägli, because they had a short urethral plate. A ventral island skin flap was fashioned, starting at the base of the penis. Dissection was carried ventrally into the scrotum to allow for adequate dorsal flap transposition. The flap was rotated laterally to shift the suture line from the midline and to cover the dorsal aspect of the penis with untouched penile shaft skin. Redundant ventral foreskin was discarded. RESULTS: All patients had an uneventful course after surgery. Dorsal penile skin was viable in every case and no patient developed recurrence of chordee or a urethrocutaneous fistula. The cosmetic result was excellent in all patients. CONCLUSIONS: Dorsal skin closure using lateral rotation of ventral penile skin flap improves cosmesis after epispadias repair and eliminates the recurrence of chordee secondary to midline dorsal scarring.

Non-visualisations of the fetal bladder: aetiology and management.

Failure to detect a normally filled fetal bladder on ultrasound scanning can imply the presence of a serious urogenital abnormality. Detailed scanning may elicit the underlying pathology, but there may be complex anomalies present, the full extent of which often has to await the results of postnatal investigations. Management in a combined paediatric urology:fetal medicine clinic is recommended.

Prenatal sonographic signs of possible fetal genital anomalies.

The sonographic markers of female and male external genitalia have been documented in early and late gestation. The aim of the present study was to report our experience of possible sonographic markers of fetal genital anomalies. Sonography was performed with a vaginal probe in early gestation and an abdominal sector scanner in advanced gestation. The following genital anomalies were observed: hypospadias, epispadias, ambiguous genitalia, and testicular feminization or Smith-Lemli-Opitz syndrome. It is therefore concluded that prenatal diagnosis of some genital anomalies is now possible.

[Didelphic uterus, blind hemi-vagina, renal agenesia with right, homolateral ureteral diverticulum with ectopic opening into the vulva and female hypospadias]. / Utérus didelphe, hémivagin borgne, agénésie rénale avec diverticule urétéral, homolatéral droit à abouchement ectopique vulvaire et hypospadias féminin.

The authors report a case of bicervical bicornuate uterus with a blind hemivagina associated with Ipsilateral renal agenesis and an ureteral diverticulum with ectopic opening to the vulva and female epispadiat. The embryology and the various aetiopathogenic theories for this rare anomaly are presented and the therapeutic principles are discussed.

Bladder exstrophy-epispadias complex: prostatic evaluation by transrectal ultrasonography.

Seven patients with bladder-exstrophy-epispadias complex underwent high resolution prostatic ultrasonography in order to establish the presence and appearance of their prostate gland and seminal vesicles. Six patients had been born with classic bladder exstrophy, and one patient with complete epispadias. The size of the prostate gland was in the normal range in three patients. Three patients had small glands, and in one patient no prostatic tissue could be identified. Two patients showed an unusual position or echoappearance of their glands. The seminal vesicles in five patients were relatively large, contained multiple cystic spaces, and/or extended posteriorly and inferiorly to the prostate gland proper. Our study demonstrates that the prostate gland and seminal vesicles are present in patients with bladder exstrophy. The unusual appearance, position, and size in most patients, however, suggests faulty embryologic development or changes secondary to surgery reflecting the complex nature of the condition. Likewise, the enlarged seminal vesicles may indicate impaired drainage of these structures secondary to the initial bladder closure or subsequent bladder neck reconstruction.