New Insights on the Basic Science of Bladder Exstrophy-epispadias Complex.

The exstrophy-epispadias complex is a rare congenital anomaly presenting as a wide spectrum of disorders. The complex nature of this malformation leads to continuous investigations of the basic science concepts behind it. Elucidating these concepts allows one to fully understand the mechanisms behind the disease in order to improve diagnosis, management, and treatment ultimately leading to improvement in patient quality of life. Multiple technological advancements within the last 10 years have been made allowing for new studies to be conducted. Herein, the authors conduct a literature review of studies from 2009 to 2019, considering novel theories regarding the genetics, embryology, bladder, bony pelvis, prostate, and genitalia of patients with bladder exstrophy-epispadias complex.

Female double urethra: a case report.

Female double urethra is a very rare anomaly, with less than 40 cases reported since 1970. Most reported cases of double urethra are in the sagittal plane and tend to be stenotic. We describe a 4-year-old girl with double urethra, which was not stenotic and was in the coronal plane. Double urethra should be excluded among other causes in any girl who is incontinent beyond the continence age.

Embryology and bony and pelvic floor anatomy in the bladder exstrophy-epispadias complex.

The exstrophy-epispadias complex is a complex congenital anomaly that, although rare, remains the largest genitourinary birth defect that is surgically correctable. The primary defect in exstrophy is a derangement in midline developmental that presents with a spectrum of severity. In its mildest form, epispadias, the dorsal urethral unit is not fused and has failed to form into a tube. Next, patients with classic bladder exstrophy present with a bladder and urethra open and continuous with the abdominal wall; also associated is a failure of the abdominal muscles, pelvic ring, and pelvic floor musculature to fuse in the midline. Cloacal exstrophy, the most severe variant, includes exstrophied hindgut tube and a more severe degree of concomitant congenital derangements of musculoskeletal, genitourinary, gastrointestinal, and neurological systems. The embryology of the exstrophy-epispadias complex has been long studied, yet debate still exists over the specific origins of the anomaly. This article covers the embryologic theories of this congenital defect and the subsequent bony pelvic and pelvic floor muscular defects characteristic of exstrophy. Primarily, the anatomic focus will be on classic bladder exstrophy because it is the most common and well studied to date.

The exstrophy-epispadias complex.

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.

[Epispadiac urethral duplication in boys]. / L'urètre surnuméraire épispade chez le garçon.

Urethral duplication, also called supernumerary urethra, is a rare malformation essentially affecting the boys. It is defined by juxtaposition of two or more muscular channels with urinary tract mucosal lining. Various features may be observed depending on the site of the extra urethra and its incomplete or complete nature. In this study, the authors examined a particular aspect of this malformation, the epispadiac form.

A rare presentation of abortive epispadiac urethral duplication and vanishing midurethra.

We report a 4-year-old boy with a hitherto undescribed case of abortive epispadiac duplication of the urethra presenting as a blind-ending penopubic sinus proximally and a mucosa-lined groove overlying the glanular corona distally but with absent midurethra. The patient was treated for cosmetic reasons with good results. A plausible embryological genesis of this defect is discussed.

Male epispadias

A better anatomical and embryological knowledge has allowed a significant advance in the management of male epispadias. Surgery has the following goals: 1. reconstruction of the urethra to enable urine voiding, either spontaneously or by intermittent catheterization through a neomeatus placed at the distal portion of the glans; 2. attainment of urinary continence preserving the upper urinary tract; 3. reconstruction of the penis so that its morphological characteristics be adequate to enable sexual relations; 4. achievement of a favorable esthetical appearance. Modern techniques provide good results with a low rate of complications. At present, the best technique for male epispadias repair is the modification introduced by ransley in the technique originally described by Cantwell. Although Mitchell's technique is promising more experience is to be gained through a close follow-up of patients

Complete primary closure of bladder exstrophy. Epispadias and bladder exstrophy repair.

Bladder exstrophy remains one of the most challenging problems in pediatric urology. Recent efforts have focused on primary reconstruction rather than urinary diversion to treat exstrophy. Complete primary closure appears to offer improved continence and decreases the number of surgical procedures required to treat exstrophy.

Anatomical basis of a common embryological origin for epispadias and bladder or cloacal exstrophies.

Epispadias, bladder exstrophy and its variants are in the first place usually considered as urological anomalies. Embryological theses and therapeutic approaches are mainly based upon this aspect. We challenge this point of view, in order to bring out a new axis of research about this still misknown pathologic field. A review of 16 cases of bladder exstrophy, 6 epispadias cases, and one cloacal exstrophy case, which had never been described before, revealed that the almost constant bony defect of the pelvic ring was linked with the severity of the visceral features, and with the continence status in epispadias cases. The commonly admitted theories about exstrophy development are based on a primary defect of the cloacal membrane. We suggest that the first anomaly could lie in a lack of rotation in the pelvic ring primordia.

Embryonic development of the ventral body wall and its congenital malformations.

Congenital abdominal wall defects, frequently associated with other anomalies, are found in many forms. Consequently, there is still controversy in the literature concerning nomenclature, classification, and pathogenesis. Recently, we proposed a new nomenclature and classification of abdominal wall defects based on the early development of the umbilical cord and of the ventral body wall. According to this classification the complete spectrum of abdominal wall defects, including cloacal exstrophy, bladder exstrophy, and epispadias, can be subdivided into four types: primary (thoraco-)abdominoschisis, omphalocele, body wall dysplasia, and secondary (thoraco-)abdominoschisis. Each type is characterized by its specific configuration of the placenta, the membranes, the umbilical cord, and the fetus. Anomalies such as urachal remnants and omphalomesenteric duct malformations can be explained by disturbances during later stages of umbilical cord development.

[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.

Exstrophy, epispadias, and cloacal and urogenital sinus abnormalities.

The congenital defects in the pelvis and perineal area, which are derived from defective development of the cloacal membrane, the urorectal septum, the mesonephric and paramesonephric (müllerian) ducts and the urogenital sinus, have been described. These may be life threatening, are often complex, and are certainly devastating to the parents. With knowledge of their embryologic origin, of their anatomy in detail, and the effect on function and drainage, treatment can be planned so that a good quality of life usually can be expected. Improved reconstructive programs and techniques can usually achieve near-normal appearance and function, with the expectation of good social adjustment.

Embryology of urinary incontinence.

Congenital incontinence may be divided into primary and secondary types. Primary incontinence refers to the development of a conduit which bypasses the normal sphincter mechanism, while secondary incontinence develops after a congenital outlet obstruction leads to bladder decompensation and overflow. The embryogenesis of the various forms of primary incontinence is described in detail and management is discussed.

[Epispadia without bladder extrophy in a female (author's transl)]. / Epispadie ohne Blasenexstrophie bei einem weiblichen Säugling

A very rare case of female epispadia without bladder extrophy is presented. The main symptoms with this malformation is incontinence and the presence of a bifid clitoris. The therapy of choice is the operative reconstruction of the urethra and reforming the bladder neck. This should not be carried out before the age of three years since the post operative bladder continence training is important for the success. Lasting urinary continence can only be expected in less than 50% of the cases.