This study aims at investigating the continence outcome in primary epispadias patients treated at a tertiary center. The authors hypothesized that additional continence procedures following primary ...epispadias repair is not routinely needed.
Patients treated for primary epispadias at the authors’ institution between 2007 and 2019 and toilet trained, were identified from a prospective maintained database. Males underwent chordee correction, urethroplasty and glanuloplasty. Females underwent genitoplasty with reduction urethroplasty. If continence was not achieved by 4–5 years of age, pelvic floor muscle (PFM) biofeedback therapy was performed. Other continent procedures were discussed with family/patient if still incontinent. Primary outcome: urinary continence. Secondary outcomes: PFM biofeedback therapy, continence surgery, hydronephrosis. Type of epispadias, age at repair and follow-up presented as median was also reported.
Thirty-three patients (29 males) were included. Twelve had penopubic epispadias, 13 glanular/penile, 4 duplicated urethra, 4 females. Median age at repair: 2 years (IQR 1–3), at follow-up: 8 years (IQR 6–10). Daytime continence: 100 % in penile/glanular; 33 % in penopubic and 75 % in duplicated urethra. Nighttime continence: respectively 92 %, 50 % and 100 %. 24 % of males were intermittently incontinent. All patients except one voided urethrally. One patient underwent bladder neck closure, ileocystoplasty and Mitrofanoff. One girl achieved daytime continence, 2 were intermittently incontinent, one continuously incontinent. All were enuretic. 38 % of boys and 100 % of girls had biofeedback therapy. None had hydronephrosis/renal impairment.
Most children with primary epispadias can achieve social urinary continence spontaneously or with the support of PFM biofeedback therapy. Other continence procedures should be reserved for patients who do not attain satisfactory continence.
Treatment study – level IV.
•Primary epispadias is a congenital malformation that can affects the bladder continence. mechanisms. Data in the literature on continence outcomes are limited and additional surgical procedures are often utilized.•In this study the authors demonstrate that good continence outcome can be achieved with primary repair and intensive pelvic floor biofeedback therapy.•Additional continence surgery should be reserved for patients who do not attain satisfactory continence.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UILJ, UL, UM, UPCLJ, UPUK, ZAGLJ, ZRSKP
Short urethral plate remains a challenge in exstrophy management. We report our experience with urethral plate grafting in cases of exstrophy with deficient urethral plate.
Among the exstrophy ...patients treated at the authors’ institutions (2018–2022), those with a short urethral plate were prospectively included. A short urethral plate was defined as a distance between the verumontanum and the base of the glans of less than 10 mm. Urethral plate grafting was performed electively before the exstrophy closure. The urethral plate was divided just distal to verumontanum, and a thin inner preputial or para-exstrophy skin graft was harvested and deployed to cover the defect. Exstrophy closure was subsequently performed. The following parameters were recorded: age at grafting, type of graft and age at exstrophy closure. Reported outcomes include success of closure, complications, and follow up.
Six male patients were included in the study: 3 classic bladder exstrophy (CBE) and 3 cloacal exstrophy (CE). Median age at grafting was 9 (3–18) months. Inner preputial grafts were utilized in the 3 CBE patients, and para-exstrophy skin grafts were used for the 3 CE patients. There was no graft loss, and longer and wide urethral plate was seen in all cases. Median time to bladder exstrophy closure was 3 (3–13) months after grafting.
Pre-closure urethral plate grafting represents a safe and effective option for exstrophy patients with a short or inadequate urethral plate.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UILJ, UL, UM, UPCLJ, UPUK, ZAGLJ, ZRSKP
Bladder exstrophy (BEX) is a rare developmental abnormality resulting in an open, exposed bladder plate. Although normal bladder urothelium is a mitotically quiescent barrier epithelium, histologic ...studies of BEX epithelia report squamous and proliferative changes that can persist beyond surgical closure. The current study examined whether patient-derived BEX epithelial cells in vitro were capable of generating a barrier-forming epithelium under permissive conditions. Epithelial cells isolated from 11 BEX samples, classified histologically as transitional (n = 6) or squamous (n = 5), were propagated in vitro. In conditions conducive to differentiated tight barrier formation by normal human urothelial cell cultures, 8 of 11 BEX lines developed transepithelial electrical resistances of more than 1000 Ω.cm2, with 3 squamous lines failing to generate tight barriers. An inverse relationship was found between expression of squamous KRT14 transcript and barrier development. Transcriptional drivers of urothelial differentiation PPARG, GATA3, and FOXA1 showed reduced expression in squamous BEX cultures. These findings implicate developmental interruption of urothelial transcriptional programming in the spectrum of transitional to squamous epithelial phenotypes found in BEX. Assessment of BEX epithelial phenotype may inform management and treatment strategies, for which distinction between reversible versus intractably squamous epithelium could identify patients at risk of medical complications or those who are most appropriate for reconstructive tissue engineering strategies.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UILJ, UL, UM, UPCLJ, UPUK, ZAGLJ, ZRSKP
The bladder exstrophy-epispadias complex (BEEC) is an abdominal midline malformation comprising a spectrum of congenital genitourinary abnormalities of the abdominal wall, pelvis, urinary tract, ...genitalia, anus, and spine. The vast majority of BEEC cases are classified as non-syndromic and the etiology of this malformation is still unknown. This review presents the current knowledge on this multifactorial disorder, including phenotypic and anatomical characterization, epidemiology, proposed developmental mechanisms, existing animal models, and implicated genetic and environmental components.
Abstract Isolated urogenital sinus can cause distended bladder and/or vagina and may present with an abdominal mass and sepsis during infancy. Older children may present with recurrent urinary tract ...infections and hematocolpos. We describe a 3-year-old girl with recurrent urinary tract infections thought to be secondary to vesicoureteric reflux. On further investigation, an isolated urogenital sinus anomaly with a calculus inside one of the hemivaginae was noted. She was managed expectantly with a plan to intervene at puberty. At puberty, during removal of the stone, the hemivaginal introitus was found to be stenotic. Gradually increasing sizes of Amplatz type graduated renal dilators were introduced from the introitus of the urogenital sinus into the hemivaginal stone until a size 22F Amplatz sheath could be passed easily. Size 10F cystoscope was passed through this channel, and the stone was fragmented using electrohydraulic lithotripsy. At a later date, she underwent staged anterior sagittal transvulval mobilization of the urogenital sinus.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UILJ, UL, UM, UPCLJ, UPUK, ZAGLJ, ZRSKP
Purpose We performed intraoperative antegrade venography to assess the prevalence of internal spermatic venous malformations in adolescents with varicocele. Materials and Methods During a 2-year ...period 58 adolescent males with visible or palpable varicocele underwent antegrade venography before varicocele surgery. Antegrade venography was performed through a scrotal incision. A vein within the pampiniform plexus was cannulated and up to 1.75 mg/kg iohexol 300 mg/ml was injected to outline the entire length of the internal spermatic vein. The radiographs were reviewed and classified according to Bähren and Murray criteria. Results Of the patients 43 (74.1%) demonstrated parallel duplications (Murray classification type P) of the internal spermatic vein. This rate is higher than the 2% reported based on retrograde venography. Of the patients with parallel duplications 21 (48.8%) showed duplications arising superior to the iliac crest (subtype A) and 22 (51.2%) had a combination of proximal duplications (subtypes B and C). Ten patients (17.2%) had a single internal spermatic vein, 2 (3.4%) had lumbar collaterals and 3 (5.2%) had renal collaterals. Conclusions Parallel duplication of the internal spermatic vein is a common finding on antegrade venography. The various levels of duplication need to be identified before treatment of varicocele to maximize the success of the procedure.
Purpose Late referrals or unsuitable bladder templates often require delayed primary repair of bladder exstrophy. We investigated longitudinal bladder growth rates and eventual outcomes following ...this approach. Materials and Methods After institutional review board approval, we reviewed the medical records of patients with classic bladder exstrophy who underwent neonatal or delayed (more than 30 days) primary closure at our institution between 1970 and 2006. Clinical characteristics and annual cystographic bladder capacity before the continence procedure were compared. Failed primary exstrophy repairs were excluded. Results A total of 33 patients with available bladder capacity measurements underwent delayed exstrophy closure due to small bladder template in 18 (88% male) and late referral in 15 (80% male) at respective median ages of 305 days (range 86 to 981) and 172 days (31 to 676). They were compared to 82 patients (71% male) undergoing neonatal closure at a median of 2 days of life (range 0 to 27). Pelvic osteotomy was performed in 32 of 33 delayed closures. Longitudinal analysis of the bladder capacities demonstrated that, compared to neonatally closed cases, bladder capacities were on average 36 ml smaller in those with delayed repair due to small templates (p = 0.01) and 29 ml smaller in those with late referrals (p = 0.13). However, the rate of bladder growth did not differ significantly among the 3 groups. Conclusions Delayed primary repair of exstrophy does not compromise the rate of bladder growth. However, children born with smaller templates will have overall smaller capacities and are less likely to undergo bladder neck reconstruction.
Congenital lower urinary-tract obstruction (LUTO) is caused by anatomical blockage of the bladder outflow tract or by functional impairment of urinary voiding. About three out of 10,000 pregnancies ...are affected. Although several monogenic causes of functional obstruction have been defined, it is unknown whether congenital LUTO caused by anatomical blockage has a monogenic cause. Exome sequencing in a family with four affected individuals with anatomical blockage of the urethra identified a rare nonsense variant (c.2557C>T p.Arg853∗) in BNC2, encoding basonuclin 2, tracking with LUTO over three generations. Re-sequencing BNC2 in 697 individuals with LUTO revealed three further independent missense variants in three unrelated families. In human and mouse embryogenesis, basonuclin 2 was detected in lower urinary-tract rudiments. In zebrafish embryos, bnc2 was expressed in the pronephric duct and cloaca, analogs of the mammalian lower urinary tract. Experimental knockdown of Bnc2 in zebrafish caused pronephric-outlet obstruction and cloacal dilatation, phenocopying human congenital LUTO. Collectively, these results support the conclusion that variants in BNC2 are strongly implicated in LUTO etiology as a result of anatomical blockage.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UILJ, UL, UM, UPCLJ, UPUK, ZAGLJ, ZRSKP
To determine the distribution of semen parameters among adolescent and adult males presenting for fertility preservation.
A retrospective, cross-sectional cohort study of adolescent males age 11-19 ...who underwent semen analysis for fertility preservation at 3 centers in 2 countries with a comparison cohort of adult men presenting for fertility preservation. Prevalence of azoospermia and distribution of semen parameters was compared across groups.
A total of 197 adolescents and 95 adults underwent semen analysis for fertility preservation. Azoospermia was present in 17 (8.6%) adolescents and 3 (3.2%) adults. There was decline in the prevalence of azoospermia with increasing age. After exclusion of patients with azoospermia, the adolescent and adult cohorts were comprised of 180 and 92 patients, respectively. Median age at presentation among adolescents vs adults was 16.5years (interquartile range IQR 15.2-17.6) and 30.8years (IQR 22.7-43.8), respectively. Median semen volume was 1.0mL (IQR 0.5-2.0) vs 2.5mL (IQR 1.5-3.5), P <.001. Median sperm concentration was 30million/mL (IQR 10-57) vs 39million/mL (IQR 14-57), P = .2. Median sperm motility was 39% (IQR 20-55) vs 45% (IQR 35-55), P = .01. Median total motile sperm count was 11million (IQR 1.4-33) for adolescents vs 29million (IQR 13-69) for adults, P <.001.
Young adolescent males had higher prevalence of azoospermia and lower semen parameters compared to adults. In conjunction with physical examination, Tanner stage, and specific clinical context, these data can help to inform patients and their families about potential for fertility preservation, even in very young adolescent patients.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UILJ, UL, UM, UPCLJ, UPUK, ZAGLJ, ZRSKP
Summary Objective 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. Study design 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. Results 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. Discussion 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. Conclusion 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. Figure Sample of the online questionnaire emailed to the local investigators.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UL, UM, UPCLJ, UPUK
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