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European Journal of Pediatric Surgery :... Dec 2021Bladder exstrophy-epispadias complex (BEEC) represents the severe end of the uro-rectal malformation spectrum and has profound impact on continence, sexual, and renal... (Review)
Review
Bladder exstrophy-epispadias complex (BEEC) represents the severe end of the uro-rectal malformation spectrum and has profound impact on continence, sexual, and renal function. Treatment of BEEC is primarily surgical, and the main goals are safe closure of the abdominal wall, urinary continence while preserving renal function, and adequate cosmetic and functional genital reconstruction. Psychosocial and psychosexual outcomes and adequate health-related quality of life depend on long-term multidisciplinary care. The overall outcome is now considered very positive and affected individuals usually lead self-determined and independent lives with the desire to start their own families later in life. Certainty about the risk of recurrence and the provision of information about the current state of knowledge about the identified genetic causes with high penetrance will have an impact on family planning for healthy parents with an affected child and for affected individuals themselves. This review addresses this information and presents the current state of knowledge.
Topics: Bladder Exstrophy; Child; Epispadias; Genetic Counseling; Health Status; Humans; Quality of Life
PubMed: 34911128
DOI: 10.1055/s-0041-1740336 -
International Journal of Surgery Case... May 2022Epispadias is a rare condition. Epispadias in females is two times less common than in males. Female epispadias range from 1 in 160,000 to 480,000 live births....
BACKGROUND
Epispadias is a rare condition. Epispadias in females is two times less common than in males. Female epispadias range from 1 in 160,000 to 480,000 live births. Epispadias can be diagnosed through careful physical examination of the genital. Surgery is the management of epispadias. Surgical management of epispadias is quite tricky and requires expertise. The literature that discusses female epispadias is challenging to be found. In this paper, we would like to report surgical management of isolated female epispadias in Cipto Mangunkusumo Hospital, Jakarta.
CASE PRESENTATION
A 7-year-old girl was admitted with a chief complaint of urinary incontinence since birth, during daytime and nighttime. Urinary incontinence was not induced by activities nor worsened by eating/drinking. Physical examination showed that the patient's external genitalia has underdeveloped labia minora, patulous urethra, bifid clitoris, and multiple hypopigmentation lesions. Laboratory results were in the normal range. The voiding cystourethrography (VCU) result revealed urine leaks during the filling phase. The bladder wall was normal, and no vesicoureteral reflux (VUR) appeared. The urethrocystoscopy shows a more vertical OUE, a wide-open bladder neck, and a urethral length of 1.5 cm. The patient underwent single-stage surgical procedures that consist of epispadias repair and bladder neck reconstruction through a subsymphyseal perineal approach. No complications occurred intra-operative and post-operative. At the 1-week and 6-months follow-up, the patient achieved urinary continence, and the surgical wound healed normally.
DISCUSSION
Epispadias is a rare condition that could occur in various degrees, from mild to severe degrees. To a severe degree, there is a split at the entire urethral and involves the bladder neck causing constant incontinence for the patient. Epispadias cases are quite challenging to diagnose. The physician needs to separate the labia majora and perform the physical examination carefully. The objective goals of surgical management of epispadias are to achieve urinary continence, restoration of anatomy, function, and cosmetic appearance of urethra and genitalia. Single-stage reconstruction is the current surgical method used to repair isolated female epispadias.
CONCLUSION
Females epispadias is a rare congenital anomaly that is quite often to miss diagnosed. The single-stage technique is the recommended surgical technique for isolated female epispadias. This patient has achieved urinary continence, and no complications occurred during and post-surgery.
PubMed: 35421723
DOI: 10.1016/j.ijscr.2022.107013 -
Surgery Research and Practice 2014The exstrophy-epispadias complex is a rare spectrum of malformations affecting the genitourinary system, anterior abdominal wall, and pelvis. Historically, surgical... (Review)
Review
The exstrophy-epispadias complex is a rare spectrum of malformations affecting the genitourinary system, anterior abdominal wall, and pelvis. Historically, surgical outcomes were poor in patients with classic bladder exstrophy and cloacal exstrophy, the two more severe presentations. However, modern techniques to repair epispadias, classic bladder exstrophy, and cloacal exstrophy have increased the success of achieving urinary continence, satisfactory cosmesis, and quality of life. Unfortunately, these procedures are not without their own complications. This review provides readers with an overview of the management of the exstrophy-epispadias complex and potential surgical complications.
PubMed: 25374956
DOI: 10.1155/2014/587064 -
Turkish Journal of Urology Sep 2017The neophallus creation is still a mystery and it remains challenging even today. In this article, we performed a comprehensive review of the literature regarding... (Review)
Review
The neophallus creation is still a mystery and it remains challenging even today. In this article, we performed a comprehensive review of the literature regarding phalloplasty and penile reconstructive surgery between January 2008 and May 2016. In this review, we have included 15 research articles and the results of 276 patients were examined. Studies revealed several indications and when indications were reviewed, 191 patients were female-to-male transgender, 9 patients had disorder of sex development/micropenis, 16 had penile amputation/trauma, 9 had ambiguus genitalia, 40 had exstrophy and/or epispadias, 11 had other problems. As a result of this review, phalloplasty is a reliable and useful operation with good functional and aesthetical results.
PubMed: 28861290
DOI: 10.5152/tud.2017.14554 -
The Pan African Medical Journal 2017Epispadias is a rare urogenital malformation characterized by more or less complete aplasia of the upper part of the urethra. It is commonly associated with bladder...
Epispadias is a rare urogenital malformation characterized by more or less complete aplasia of the upper part of the urethra. It is commonly associated with bladder exstrophy. Isolated epispadias occurs in 10% of cases. Continent and incontinent epispadias may be distinguished. We report the case of a 29-year old patient presenting with dysuria associated with the impossibility of having sexual intercourses. Physical examination of the external genitalia showed slit-like abnormal urethral opening on the distal half of the dorsal side of the penis. Patient's penis didn't have dorsal curvature (chordee), the corpus cavernosum was palpated and slightly lateralized. The abdominal wall was without abnormalities. The remainder of the clinical examination was normal. Given this anomaly, the diagnosis of balano-pubic continent epispadias was retained. Ultrasound of the urinary tract was normal and pelvis X-ray without preparation showed interpubic diastasis. The patient underwent single-stage surgery using Cantwell-Young technique. Immediate postoperative outcome was without abnormalities; the urethral probe was removed 21 days later, after wound healing. Functional and aesthetics outcome evaluated at three and six months was satisfactory without penis shortness.
Topics: Abdominal Wall; Adult; Dysuria; Epispadias; Humans; Male; Penis; Treatment Outcome; Urethra; Urogenital Surgical Procedures
PubMed: 29610640
DOI: 10.11604/pamj.2017.28.202.14220 -
BMC Urology Aug 2022To represent the long-term outcomes of our modified single-stage technique for the reconstruction of isolated penopubic epispadias in male patients.
OBJECTIVE
To represent the long-term outcomes of our modified single-stage technique for the reconstruction of isolated penopubic epispadias in male patients.
PATIENTS AND METHODS
Data from 113 patients were obtained from bladder-exstrophy-epispadias database of our tertiary center. A total of seven boys with isolated penopubic epispadias with no prior history of surgery and any other anomaly underwent our modified surgical approach from February 1997 to September 2019. The mean ± SD age at surgery was 6.5 ± 2.4 years. Volitional voiding status and cosmetic appearance were evaluated at each follow-up interval. Postoperative follow-up was performed at quarterly intervals in the first year and once a year in subsequent years.
RESULTS
The mean ± SD of follow-up was 8.5 ± 6 years. All boys who were incontinent achieved urinary control and the ability of normal transurethral micturition following the surgery. Four boys became completely dry, and the other three attained social dryness. Postoperative mean (SD) bladder capacity was significantly increased from 54.5 (11) to 124 (40.0) within 6 months, and to 194 (47.5) at 18 months after surgery. Dorsal curvature has been resolved in all cases, and no postoperative complications were noted except for surgical site infection in one patient treated with antibiotics and bilateral vesicourethral reflux resolved after injection of bulking agents. Four patients had normal erectile function and ejaculation, while the others have not reached puberty yet. Moreover, none of the patients developed urethrocutaneous fistula, stricture, or penile ischemia.
CONCLUSION
The present findings suggest the safety and effectiveness of the combination of single-stage urethro-genitoplasty, bladder neck plication, and fat pad pedicled flap in management of boys with isolated penopubic epispadias that can lead to the achievement of urinary control, acceptable sexual function, and cosmetically satisfactory genitalia. Minimal morbidity, low complication rate, and promising outcomes are essential factors, supporting the notion of introducing this technique as a valid option for management of this entity.
Topics: Bladder Exstrophy; Epispadias; Humans; Male; Penis; Treatment Outcome; Urethra
PubMed: 36038905
DOI: 10.1186/s12894-022-01089-2 -
Genes Jul 2021The bladder exstrophy-epispadias complex (BEEC) is an abdominal midline malformation comprising a spectrum of congenital genitourinary abnormalities of the abdominal... (Review)
Review
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.
Topics: Bladder Exstrophy; Epispadias; Female; Genetic Predisposition to Disease; Genome-Wide Association Study; Humans; Male
PubMed: 34440323
DOI: 10.3390/genes12081149 -
Orphanet Journal of Rare Diseases Oct 2009Exstrophy-epispadias complex (EEC) represents a spectrum of genitourinary malformations ranging in severity from epispadias (E) to classical bladder exstrophy (CEB) and... (Review)
Review
Exstrophy-epispadias complex (EEC) represents a spectrum of genitourinary malformations ranging in severity from epispadias (E) to classical bladder exstrophy (CEB) and exstrophy of the cloaca (EC). Depending on severity, EEC may involve the urinary system, musculoskeletal system, pelvis, pelvic floor, abdominal wall, genitalia, and sometimes the spine and anus. Prevalence at birth for the whole spectrum is reported at 1/10,000, ranging from 1/30,000 for CEB to 1/200,000 for EC, with an overall greater proportion of affected males. EEC is characterized by a visible defect of the lower abdominal wall, either with an evaginated bladder plate (CEB), or with an open urethral plate in males or a cleft in females (E). In CE, two exstrophied hemibladders, as well as omphalocele, an imperforate anus and spinal defects, can be seen after birth. EEC results from mechanical disruption or enlargement of the cloacal membrane; the timing of the rupture determines the severity of the malformation. The underlying cause remains unknown: both genetic and environmental factors are likely to play a role in the etiology of EEC. Diagnosis at birth is made on the basis of the clinical presentation but EEC may be detected prenatally by ultrasound from repeated non-visualization of a normally filled fetal bladder. Counseling should be provided to parents but, due to a favorable outcome, termination of the pregnancy is no longer recommended. Management is primarily surgical, with the main aims of obtaining secure abdominal wall closure, achieving urinary continence with preservation of renal function, and, finally, adequate cosmetic and functional genital reconstruction. Several methods for bladder reconstruction with creation of an outlet resistance during the newborn period are favored worldwide. Removal of the bladder template with complete urinary diversion to a rectal reservoir can be an alternative. After reconstructive surgery of the bladder, continence rates of about 80% are expected during childhood. Additional surgery might be needed to optimize bladder storage and emptying function. In cases of final reconstruction failure, urinary diversion should be undertaken. In puberty, genital and reproductive function are important issues. Psychosocial and psychosexual outcome depend on long-term multidisciplinary care to facilitate an adequate quality of life.
Topics: Abnormalities, Multiple; Bladder Exstrophy; Cloaca; Counseling; Diagnosis, Differential; Epispadias; Female; Humans; Male; Osteotomy; Prenatal Diagnosis; Prognosis
PubMed: 19878548
DOI: 10.1186/1750-1172-4-23 -
TheScientificWorldJournal Mar 2011This article considers the impact and outcomes of both treatment and underlying condition of penile anomalies in adolescent males. Major congenital anomalies (such as... (Review)
Review
This article considers the impact and outcomes of both treatment and underlying condition of penile anomalies in adolescent males. Major congenital anomalies (such as exstrophy/epispadias) are discussed, including the psychological outcomes, common problems (such as corporal asymmetry, chordee, and scarring) in this group, and surgical assessment for potential surgical candidates. The emergence of new surgical techniques continues to improve outcomes and potentially raises patient expectations. The importance of balanced discussion in conditions such as micropenis, including multidisciplinary support for patients, is important in order to achieve appropriate treatment decisions. Topical treatments may be of value, but in extreme cases, phalloplasty is a valuable option for patients to consider. In buried penis, the importance of careful assessment and, for the majority, a delay in surgery until puberty has completed is emphasised. In hypospadias patients, the variety of surgical procedures has complicated assessment of outcomes. It appears that true surgical success may be difficult to measure as many men who have had earlier operations are not reassessed in either puberty or adult life. There is also a brief discussion of acquired penile anomalies, including causation and treatment of lymphoedema, penile fracture/trauma, and priapism.
Topics: Adolescent; Humans; Male; Penis
PubMed: 21399858
DOI: 10.1100/tsw.2011.38