Bladder exstrophy is a rare genitourinary malformation that, when simply

defined, refers to the eversion of the bladder to the outside of the body (Figure
1).It is a rare genitourinary malformation for which the management still
challenges the field of pediatric urology.

Incidence

The incidence of bladder exstrophy was originally estimated between 1:10,000

and 1:50,000 live births [ ]. However, more recent data from the International
Clearinghouse for Birth Defects monitoring system and the Healthcare Cost and
Utilization Project Nationwide Inpatient Sample from the United States estimated
the incidence to be 2.15 - 3.3 per 100,000 live births. , There is a male
predominance with the male to female ratio has been reported between 2.3-6:1
[ , , ].

Embryology

Mesodermal ingrowth between the ectodermal and endodermal layers of the

bilaminar cloacal membrane results in formation of the lower abdominal
musculature and pelvic bones. After mesenchymal ingrowth occurs, downward
growth of the rectal septum divides the cloaca into a bladder anteriorly and a
rectum posteriorly. The genital tubercles migrate medially and fuse in the midline
cephalad to the dorsal membrane before it perforates. The cloacal membrane is
subject to premature rupture depending on the extent of the infraumbilical
defect. The stage of development when the membrane rupture occurs
determines whether bladder exstrophy, cloacal exstrophy, or epispadias results
[ ].

The most related theory of embryonic development in exstrophy, held by

Marshall and Muecke [ ], describes the basic defect as an abnormal lower
overdevelopment of the cloacal membrane, which prevents the medial migration
of the mesenchymal tissue. Therefore proper development of the abdominal wall
does not occur. The timing of the rupture of this cloacal defect determines the
severity of the disorder. Central perforations resulting in classic exstrophy have
the highest incidence (60%) whereas exstrophy variants account for 30% and
cloacal exstrophy 10%.

Other theories are offered concerning the cause of the exstrophy-epispadias

complex. Ambrose and OBrian postulated that an abnormal development of the

genital hillocks with fusion in the midline below rather than above the cloacal
membrane result in the exstrophy defect [7]. Another hypothesis describes an
abnormal caudal insertion of the body stalk with failure of the interposition of the
mesenchymal tissue in the midline [ ]. As a consequence of this failure,
translocation of the cloaca into the depths of the abdominal cavity does not
occur. A cloacal membrane that remains in a superficial infraumbilical position
represents an unstable embryonic state with a strong tendency to disintegrate
[ ]. No one theory seems to elucidate all aspects of the complex seen clinically
and further study is ongoing to fully describe the developmental process that
ultimately forms the exstrophy-epispadias complex.

Inheritance

Evidence exists for a genetic predisposition for exstrophy and epispadias. The
risk of recurrence of bladder exstrophy in a given family is approximately 1 in
100 [ ], much greater than in the general population. There are many reports of
twins with exstrophy. At the same time, however, there are also reports of
identical twins with both having exstrophy and another set in which only one was
affected. There are numerous cases of nonidentical twins in which only one
sibling was affected. These twin sets were found in both male and female pairs
[1,4]. Concordance analyses of twins with bladder exstrophy-epispadias complex
also suggest a genetic etiology [ ]. A report of 151 families with exstrophyepispadias complex found 4 multiplex families for a rate of 2.7% [ ]. The
likelihood of an exstrophic parent producing a child with exstrophy is about 1:70
live births or 500 times the risk for the general population [4].
Many efforts have been made to understand the possible etiologies of the
exstrophy-epispadias complex. The early developmental hormonal milieu
associated with in vitro fertilization has been postulated to be involved based on
studies that showed a 7.5-fold increase in exstrophy and cloacal exstrophy
associated with the use of assisted reproductive technology such as
introcystoplasmic sperm injection [ ]. Another epidemiology study showed an
increased rate of exstrophy-epispadias complex births to women who underwent
in vitro fertilization [ ].
The CASPR3 gene on chromosome 9 has been implicated by Boyadjiev and
colleagues to be associated with the exstrophy complex [ ]. Another set of genes
on the 9th chromosome has been identified to associate with bladder exstrophy [
, ]. Genetic studies are attempting to determine where and if specific genetic
factors can be found that are related to the exstrophy-epispadias complex.
Multiple other possible gene loci have been identified but not confirmed [ ].

Prenatal Diagnosis

Despite the magnitude of the defect in the lower abdominal wall and pelvic
organ development, exstrophy of the bladder is still difficult to diagnose reliably
by prenatal ultrasound. This is likely because of its rare incidence and that it is
often mistaken for more common diagnoses of omphalocele or gastroschisis.
Several groups have illustrated ultrasound findings important in the prenatal
diagnosis of exstrophy. In a review of 25 prenatal ultrasounds with subsequent
birth of a newborn with classic bladder exstrophy Gearhart et al [ ] described the
main criteria for the prenatal diagnosis of exstrophy. This criteria included the
(1) absence of bladder filling, (2) lower abdominal mass which becomes more
protuberant as the pregnancy proceeds, (3) a low-set umbilicus, (4) separation of
the pubic rami, and (5) difficulties determining the sex of the baby. In analyzing
this data, bladder exstrophy should always be suspected on the basis of nonvisualization of the bladder.

It is felt that 3-D ultrasound and the increasing use of fetal MRI will improve the
ability to diagnosis bladder and cloacal exstrophy [ ]. Prenatal diagnosis allows
for prenatal counseling and arrangements to be made for delivery at a
specialized exstrophy center. This allows for a multidisciplinary approach by
teams with experience dealing with the unique nature of the exstrophyepispadias complex. This includes availability of reconstructive teams in the
immediate newborn period and psychosocial support for the parents and
families.

The diagnosis of bladder exstrophy is made (or confirmed) at birth with

visualization of the bladder plate characteristically protruding beneath the
umbilical cord with divergent rectus muscles on either side leading to widely
separated pubic bones.

Skeletal Defects

The most obvious skeletal defect is the separation of the pubic bones, which is
caused by the outward rotation of the innominate bones, eversion of the pubic
rami, and a 30% shortage of bone in the pubic ramus [ ]. The mean external
rotation of the posterior aspect of the pelvis was 12-degrees on each side,
retroversion of the acetabulum, and a mean 18-degrees of external rotation of
the anterior pelvis was determined by 3-D CT reconstructions. Further use of 3-D
CT scans showed that the SI joint angle (before closure) was 10-degrees larger in
the exstrophy pelvis compared to age-matched controls and 10-degrees more
toward the coronal plane than sagittal. The bony pelvis was also 14.7-degrees
inferiorly rotated. The sacrum was 42.6% larger by volume measurements and

had 23.5% more surface area. These deformities of the pelvic bones contribute
to the shortened phallus, waddling gait, and outward rotation of the lower limbs
in exstrophy patients. A study of 299 bladder exstrophy children indicated that
spinal variations occur without clinical significance: spina bifida occulta,
lumbarization or sacralization of vertebrae in 11%, uncomplicated scoliosis in
2.7%, and spinal dysraphism in 4%, including myelomeningocele,
lipomeningocele, scimitar sacrum, and hemivertebrae. Only one patient
demonstrated evidence of neurologic dysfunction [ ].

Pelvic Floor Defects

Data by Stec et al. utilizing 3-D CT imaging demonstrated that the puborectal
slings in classic bladder exstrophy patients support two times more body cavity
than normal age-matched controls [ ]. While the levator muscle group in normal
controls is evenly distributed posterior to anterior (52% to 48%) to the rectum,
there is an uneven 68% to 32% posterior to anterior distribution in the exstrophy
pelvis. There is also a significant flattening of the levators. A 31.7-degree
decrease in the steepness is seen between the right and left halves of the levator
ani and puborectalis sling. Consequently the anus is anteriorly placed and
sometimes patulous as a part of the posterior extent of the myofascial defect.
These musculoskeletal malformations explain the increased rate of rectal
prolapse, especially in the female exstrophy population.

Further study of the pelvic floor has been done with 3-D MRI and has impacted
the understanding of the exstrophy pelvis for reconstruction. Williams et al.
demonstrated that the levator ani group was less dome shaped and more
irregular in the exstrophy population prior to closure when compared to normal
controls. There was also no relationship seen between the degree of pubic
diastasis and the extent of disproportionate curvature of the levator ani muscle
group. Review of post-closure pelvises by MRI revealed that in those with some
degree of continence the intrasymphyseal distance was noted to be the shortest,
the angle of the levator ani divergence sharpest, and the bladder neck most
deeply positioned in the pelvis [ ]. Gargollo reported on MRI before and after
exstrophy closure, noting that the puborectalis angle in those with dry intervals
was decreased compared with that prior to closure [ ]. New reports of the use of
3D perineal ultrasound to evaluate the pelvic floor of adult exstrophy females
showed that the ultrasound findings correlated well with MRI findings [ ]. These
reports reinforce the necessity for aggressive dissection and posterior placement
of the posterior urethra and bladder along with good reapproximation of the
pubis at the time of closure. Osteotomies and pelvic fixation should be utilized if
reconstruction is not done in the immediate newborn period.

Abdominal Wall Defects

There is a triangular defect as a result of the premature rupture of the abnormal

cloacal membrane in the abdominal wall, and it is occupied by the exstrophy
bladder and posterior urethra. This defect in the fascia is limited inferiorly by the
intrasymphyseal band that represents the divergent urogenital diaphragm and
connects the bladder neck and posterior urethra to the pubic rami. Wakim and
Barbet investigated the relationship of the rectus muscle and fascia to the
urogenital diaphragm and found no gross or histologic evidence of the striated
sphincter [ ]. They did find evidence of bladder musculature extending laterally
to the pubis where it interdigitates with fibers from the rectus fascia to form the
fibrous urogenital diaphragm. The importance of radical incision of these fibers
lateral to the urethral plate down to the level of the inferior pubic ramus and
levator hiatus for the bladder and posterior urethras position deep in the pelvis
were demonstrated by Gearhart and colleagues, using data from failed exstrophy
closures where these fibers were intact at the time of reclosure [ ].

At the cephalad, limit of the triangular fascial defect is the umbilicus. The
distance between the umbilicus and anus is foreshortened in bladder exstrophy
because the umbilicus is well below the horizontal line of the iliac crest. Although
an umbilical hernia is usually present, it is typically insignificant in size and
repaired at the time of initial exstrophy closure.

Inguinal hernias are common. They are due to a lack of obliquity of the inguinal
canal combined with large internal and external rings and persistence of the
processus vaginalis. Connolly and associates reported an 81.8% incidence of
inguinal hernia in males and 10.5% in females [ ]. It is recommended to explore
the inguinal canals at the time of exstrophy closure and excise the hernia sac
with repair of the transversalis fascia and muscular defect to prevent recurrence
or a direct hernia.

Anorectal Defects

The exstrophy patients perineum is short and broad and the anus directly
behind the urogenital diaphragm. It is anteriorly displaced and corresponds to
the posterior limit of the triangular fascia defect. The anal sphincter complex is
also anteriorly displaced and should be preserved intact. These anatomic factors
contribute to varying degrees of anal incontinence and rectal prolapse. Rectal
prolapse frequently occurs in untreated exstrophy patients with a widely
separated symphysis. Usually this is transient, easily reduced and disappears

after bladder closure or cystectomy/urinary diversion. The appearance of

prolapse of the rectum is also an indication to proceed with definitive
management of the exstrophied bladder. If it occurs at any time after exstrophy
closure, posterior urethra/bladder outlet obstruction should be suspected and
immediate evaluation of the outlet tract by cystoscopy should be performed [ ].

Male Genital Defects

The male genital defects are severe and challenging at the time of
reconstruction. The phallus is short due to 50% deficiency in anterior corporal
length [ ] with preservation in posterior length of the corporal body when
compared to age-matched controls by MRI. The diameter of the posterior
corporal segment was greater than in normal controls. The diastasis of the
symphysis pubis increased the intrasymphyseal and intracorporeal distances, but
the angle between the corpora cavernosa was unchanged because the corporal
bodies were separated in a parallel fashion. This results in a penis that appears
short because of the diastasis and the marked congenital deficiency of anterior
corporal tissue. Releasing the dorsal chordee, lengthening the urethral groove,
and mobilizing the crura in the midline to somewhat lengthen the penis can
result in a functional and cosmetically pleasing phallus.

Gearhart and associates used MRI to demonstrate in 13 adult men with bladder
exstrophy that the volume, weight, and maximum cross-sectional area of the
prostate appeared normal compared with published controls [ ]. However, they
found that in none of the patients evaluated did the prostate extend
circumferentially around the urethra, and the urethra was anterior to the
prostate in all patients. The free and total PSA levels in adult bladder exstrophy
men were found to be measureable but below the upper limits of established
age-specific references ranges for normal men [ ]. There is a single report of a
56 year-old epispadias patient having prostate cancer with a PSA of 4.2 at the
time of biopsy [ ].

The vas deferens and ejaculatory ducts are normal in the exstrophy patient as
long as they are not injured iatrogenically during closure or reconstruction. The
mean seminal vesicle length was found to be normal.

The autonomic nerves that innervate the corpus cavernosum (cavernous nerves)
are displaced laterally in exstrophy patients [ ] and these nerves are preserved in
almost all exstrophy patients as potency is preserved after surgery. Retrograde

ejaculation is found to occur after bladder closure and bladder neck

reconstruction.

Testes frequently appear to be retractile but have adequate length in the

spermatic cord to reach the flat, wide scrotum without need for orchiopexy. The
testes have not been studied in a large group of postpubertal exstrophy patients
but are generally believed to be not impaired. DHauwers et al. reported the use
of percutaneous sperm aspiration and intracytoplasmic sperm injection, and
state in 3 exstrophy patients they had good success with sperm harvesting [ ].

Female Genital Defects

In girls, the mons, clitoris, and labia are separated and the vaginal orifice is
displaced anteriorly and stenotic. The clitoris is bifid and the vagina is shorter
than normal controls but of normal caliber. The cervix is found on the anterior
vaginal wall because the uterus enters the vagina superiorly. The fallopian tubes
and ovaries are usually normal. The bifid clitoris should be reapproximated with
the two ends of the labia minora to form a fourchette at the time of primary
closure. Commonly, vaginal dilation or an episotomy may be required to allow
satisfactory intercourse in the mature female. A study of 56 adult women found
that 10 developed uterine prolapse at a mean age of 16 years. Six of whom had
previously had reconstruction that included a posterior iliac osteotomy at a mean
age of 2.1 years [ ].

Urinary Defects

The exposed bladder mucosa is susceptible to cystic or metaplastic changes and,

therefore, must be irrigated frequently with saline and protected from surface
trauma and exposure by a protective membrane until surgical bladder closure
can be preformed. Commonly plastic wrap (i.e., Saran Wrap) is sufficient. The
mucosa at birth can have a segment of ectopic bowel mucosa, an isolated bowel
loop, or most commonly hamartomatous polyps.

Shapiro and colleagues characterized the neuromuscular function of the bladder.

They showed that muscarinic cholinergic receptor density and binding affinity
were similar in exstrophy and control subjects [ ]. Bladder biopsies from 12
newborns with bladder exstrophy, compared to age-matched controls, found an
increase in the ratio of collagen to smooth muscle in the exstrophy bladders[ ].
The type of collagens were analyzed and a normal distribution of type I collagen

was present, but a threefold increase in type III collagen was found. It was later
seen that those patients who demonstrated bladder growth by measuring
capacity after successful closure, who were free of infection had a markedly
decreased ratio of collagen to smooth muscle [ , ]. Primary cultures of exstrophy
bladder smooth muscle cells were shown to have growth characteristics similar
to those previously reported in non-exstrophy cells, showing that they likely
retain their potential for growth and function [ ]. Mathews and associates found
that the average number of myelinated small nerve fibers per field was
significantly reduced in the exstrophy bladders compared with controls [ ].
Preservation of larger nerve fibers was seen, which led the study to hypothesize
that bladder exstrophy in a newborn represented an earlier stage of bladder
development. Multiple immunocytochemical and histochemical markers,
vasoactive intestinal polypeptide (VIP), neuropeptide Y (NPY), substance P (SP),
calcitonin gene-related product (CGRP), protein gene product (PGP) 9.5, and
nicotinamide adenine dinucleotide phosphate diaphorase (NADPHd) have been
studied, and there was no evidence of bladder muscle dysinnervation
morphologically in any cases of bladder exstrophy [ ]. However, cases of bladder
exstrophy after failed reconstruction did have muscle innervation deficiencies
that increased subepithelial and intraepithelial innervations. Microarray analysis
of exstrophic bladder smooth muscle compared to healthy controls showed
what appears to be a developmentally immature finding in the exstrophy bladder
smooth muscle [ ]. Therefore, it is felt that although the bladder in an exstrophy
patient may be immature it has the potential for normal development after a
successful initial closure.

Bladder plate polyps were found to be two types with overlapping findings:
fibrotic and edematous. Both were associated with overlying squamous
metaplasia in 50% of cases. Varying degrees of von Brunns nests, cystitis
cystica and cystitis glandularis were noted. Cystitis glandularis was noted in a
higher percentage of secondary closures. Future surveillance of those cystisis
glandularis patients is recommended given their potential risk for
adenocarcinoma. This can be done with urine cytology and cystoscopy as they
enter adulthood [ ].

The bladder plate may invaginate or bulge through a small fascial defect at birth
but the true estimate of the bladder plate cannot be evaluated completely until
the newborn is under anesthesia and fully relaxed. A small, fibrosed, inelastic
bladder and/or one that is covered with polyps may make a functional repair
challenging and potentially impossible.

Normal cystometrograms were obtained in 70-90% of those assessed in a group

of continent exstrophy patients with normal reflexive bladders [ ]. An evaluation
of 30 exstrophy patients at various phases of modern staged repair prior to

bladder neck reconstruction found 80% to have compliant and stable bladders
after bladder neck reconstruction. Approximately half maintained normal bladder
compliance and fewer maintained normal stability. It was felt by the authors of
that study that 25% of exstrophy patients might maintain normal detrusor
function after reconstruction [ ]. The microstructure of the bladder of exstrophy
patients at various points in modern staged repair was found to have different
caveoli (important intracellular structures for cell-cell signaling). These caveoli
were felt to be normal in those with a successful closure and improving bladder
capacity but lacking in those who required an augmentation cystoplasty. They
noted that the ultrastructure of cells also was abnormal in the group that failed
initial closure [ ].

The remainder of the urinary tract is usually normal but anomalies do occur.
Horseshoe kidney, pelvic kidney, hypoplastic kidney, solitary kidney, and
dysplasia with megaureters can all be encountered. The course of the ureter is
abnormal in terms of termination. Because the peritoneal pouch of Douglas,
between the bladder and the rectum, is enlarged and unusually deep, the ureter
is forced down laterally in its course across the true pelvis. The distal segment
approaches the bladder inferiorly and laterally to the orifice. This results in
vesicoureteral reflux in 100% of exstrophy cases. Ureteral reimplantations are
done at the time of bladder neck repair but sometimes are needed sooner. If
there are problems with infections and excessive outlet resistance, ureteral
reimplantation may be needed prior to bladder neck reconstruction or at any
point if severe reflux and upper tract issues develop.

Evaluation and Management at Birth

In the delivery room the umbilical cord should be tied with 2-0 silk close to the
abdominal wall so the umbilical clamp does not irritate or traumatize the
exposed bladder mucosa. The bladder mucosa should be frequently irrigated
with warm saline and always covered with a protective clear plastic wrap until
the time of closure. The bladder should be irrigated and plastic wrap changed at
each diaper change.

A multidisciplinary approach is important. The team should include, but not be

limited to, a pediatric urologist, pediatric orthopedic surgeon, pediatric
anesthesiologist, neonatologist, pediatric psychiatrist (with expertise and
experience in genital anomalies) and social workers. Studies have proven that
the parents of exstrophy patients experience a significant amount of stress. The
parents stress should not be overlooked during the initial and long-term care of
the patient [ ]. The parents should be reassured that children with classic bladder
exstrophy are generally healthy, robust infants with the prospect of leading a

very normal life. Effective reconstruction to allow urinary storage, drainage, and
control can be expected with acceptable cosmetic appearance. The support of
psychologists, nurses, and parents of other children with exstrophy is invaluable
and available at an Association of Bladder Exstrophy Children (ABC) certified
center. The ABC website (www.bladderexstrophy.com) also offers further
information for parents and families.

A neonatologist should evaluate the patient from a general pediatric and

cardiopulmonary standpoint with the likelihood of major surgery in the first 48
hours of life. A cardiac echo is commonly done to rule out significant
cardiopulmonary anomalies that would preclude early reconstruction. A renal
ultrasound should be obtained to evaluate the upper urinary tracts. A KUB is
done to evaluate the pelvis bony anatomy and a spinal ultrasound to rule out an
associated spinal dysraphism.

It is essential that a pediatric genitourinary surgeon with experience and interest

in the exstrophy-epispadias complex evaluate the newborn exstrophy patient, as
the impact of a major birth defect is significantly worse by inappropriate initial
management [ , , ].

In those patients with ambiguous genitalia in addition to bladder exstrophy the

parents should be educated and counseled by a multidisciplinary disorders of
sexual differentiation team but should understand that the need to change the
gender rearing in classic bladder exstrophy is almost nonexistent in the male
infant with current reconstructive outcomes.

As many of these cases still go undetected until the time of delivery, most will
require transport to an exstrophy center soon after birth. During travel, the
bladder should be protected by a clear plastic membrane and kept moist to
protect the delicate bladder mucosa.

Surgical Reconstruction
The goals of surgical reconstruction in the exstrophy patient are to correct the
urogenital defects providing a reservoir that is adequate for urinary storage at
low pressures with the ability to empty completely without compromising
renal function, to create functional and cosmetically acceptable external
genitalia, and to maximizing patient quality of life.
Early attempts at bladder exstrophy were unsuccessful and patients had short life
expectancies. Therefore, for many years the management for exstrophy consisted

of removal of the exstrophic bladder and urinary diversion commonly by

ureterosigmoidostomy. Various staged repairs began to show early success in the
1950s [ ]. In the 1970s, the preliminary constructs of staged repair that are utilized
today were initiated [ , , ]. This developed into the modern staged repair of
exstrophy [ ] that is commonly used today. In the late 1980s an anatomical
approach to exstrophy repair began and has been modified into what is now
referred to as the complete primary repair of exstrophy or Mitchell technique
[ ]. Currently, most patients are managed either with a complete primary
repair of exstrophy (CPRE [65]) or modern staged reconstruction of
exstrophy (MSRE) [ ]. A great deal of discussion continues regarding the optimal
treatment of exstrophy in the newborn period. With that in mind,
ureterosigmoidostomy remains a popular and preferred reconstruction in many
parts of the world because it reliably achieves urinary continence and is relatively
safe for those without access to dependable health care facilities or a specialized
exstrophy centers [ ].
Complete Primary Repair of Exstrophy
The CPRE is the most recent development in surgical management of
exstrophy patients pioneered by Dr. Mitchell [63]. This approach has been
adopted and reproduced by multiple centers of excellence for exstrophy
management. In the CPRE, an anatomic approach to reconstruction includes
bladder closure with bladder neck remodeling and a disassembly technique
for epispadias repair with or without osteotomies in one setting [ ]. It is felt
this allows for bladder cycling and more normal growth and development
because the bladder experiences an outlet resistance. The disassembly
technique for epispadias repair also allows for division of the intersymphyseal
ligaments and appropriate anatomic placement of the bladder neck and
posterior urethra deep into the pelvis in its orthotopic position [ ]. When done
within the first 72 hours of life, the pelvis is malleable enough to close without
osteotomies. The patients still necessitate Bryants traction for approximately
1 week and then lower extremitiy casting for 3 weeks to prevent tension on the
pelvis closure. The incidence of dehiscence and bladder prolapse is rare in the
modern day [ ].
The CPRE is advocated as an approach to allow for maximal development of
the bladder and define those patients whose bladders will grow and develop
earlier than those managed in a staged manner. Normalizing the anatomy at
the initial closure just after birth may have other benefits such as minimizing
the familys psychosocial trauma. Patients whose bladder does develop will
likely undergo fewer procedures than in a staged fashion.
Continence has been reported after CPRE to be 76%, defined as dry intervals
longer than 2 hours and spontaneous voiding without catheterizations [ ].
However, a significant percentage of patients will likely still require a formal

bladder neck procedure to achieve continence [ ]. In another series, 75% of

patients after CPRE were continent with intervals of 4 hours and dry at night
with 31.3% requiring CIC [ ].
Concerns with the CPRE are related to potential for renal deterioration
related to a high pressure lower urinary system, risk of penile injury or loss
with disassembly at such a young age, and requirement for multiple
procedures despite the name complete repair. Close follow-up of the upper
tracts is important in exstrophy regardless of repair. Hydronephrosis,
pyelonephritis and renal scarring are seen after CPRE and should be
managed aggressively with prophylactic antibiotics since vesicoureteral reflux
is expected post operatively. Long-term follow-up in the Seattle series shows
that mild (45%), moderate (17.8%), and severe (7.1%) hydronephrosis is seen
after CPRE. But half of those with hydronephrosis, and in all with severe
hydronephrosis, it was transient [ ]. Borer and associates reported an
incidence of pyelonephritis of 28% and DMSA renal scaring of 19% after
CPRE [70]. The need for bilateral ureteral reimplantation after CPRE
exclusive of those done at the time of bladder neck repair are seen to be 2534% [70,71,72].
Approximately 36-68% of patients will be left with a hypospadias after CPRE
that will require further penile surgery [63,69,70,71,72, ]. Glans necrosis,
penile skin loss and/or penile tissue loss has been reported after CPRE but is
quite rare when performed at an exstrophy centers of excellence [ , ].
Comparing the number of procedures that a patient may be expected to
undergo is a controversial topic when comparing the CPRE and MSRE.
Reports vary widely about the number and types of procedures and the
reports are fraught with potentials for bias making it difficult to draw true
conclusions on this subject [75]. However, it is accepted that patients managed
in a CPRE and MSRE approach will likely require multiple procedures and
the outcomes are better if managed at a center of excellence for exstrophy.
Modern Staged Reconstruction of Exstrophy
The MSRE as now practiced has evolved from the original work by Cendron
[59] and Jeffs. [60] The Hopkins group, led by Dr. Gearhart, currently has the
largest exstrophy population and writes the majority of the literature
regarding the MSRE [ ]. In the MSRE, the goal at initial reconstruction is to
convert the exstrophic bladder to a complete epispadias. Pelvic osteotomies
are performed in conjunction with bladder closure when indicated. It is felt
that this will allow for protection from renal dysfunction because the patient is
still incontinent but can also stimulate bladder growth since there is now some
bladder outlet resistance. The epispadias repair is performed between 6-12
months of age and testosterone stimulation is provided preoperatively. The

bladder neck repairs for continence is performed between 4-5 years of age if
they have an adequate bladder capacity and are determined to be ready to
participate in a postoperative voiding program [76]. If these criteria are not
met, the patient is left incontinent until the bladder grows and maturity
improves or they are diverted with an augmentation with a catheterizable
channel and bladder neck closure when necessary.
Continence rates are reported by Gearhart in males to be 70% and females to
be 74% with dry periods greater than 3 hours with spontaneous voiding and
dry at night without CIC [76, ]. They have concluded that a bladder capacity
of 100 ml predicts success at the time of bladder neck reconstruction utilizing
the modified Young-Dees-Leadbetter repair. This increased the chance of
continence and time to achieve continence in their reviews [76,77]. If this 100
ml capacity is not achieved it is felt they should undergo an augmentation at
the time of reconstruction for continence. They also found that females were
more likely to achieve continence and at a shorter duration after bladder neck
reconstruction [77]. Their reports also show similarly low complication rates.
In males after closure, epispadias, and bladder neck reconstruction the total
complication rate was 41.7% with one incidence of primary closure failure
[76]. In females after bladder closure and bladder neck reconstruction the
total complication rate was 19.5% [77]. In their modern series if successful
bladder growth occurs 19.4% of males and 17% of females failed bladder
neck reconstruction and have undergone or will require an augmentation with
a catheterizable stoma and bladder neck closure as indicated [76,77].
In the MSRE, if a patients bladder capacity does not develop to the level that
predicts success with bladder neck reconstruction, the patient is moved
directly to an augmentation for continence. This is reasonable but clouds
comparisons between MSRE and CPRE. The MSRE reports those that
complete the series. Because the CPRE performs a continence procedure at
the initial closure, they are including those patients whose bladders may not
have developed and never been a candidate for a bladder neck reconstruction
had they been managed by MSRE. Also, it is difficult to determine how many,
if any, of those bladders that did not develop to 100 ml capacity by continence
age would have grown had they had a CPRE at initial closure with increased
outlet resistance available to promote development. There also may be a
certain subset of exstrophy bladders that are bad and will not grow
regardless of closure technique but are unable to be identified at birth. These
factors make it difficult to define success and failure when comparing
techniques. Further long term prospective analysis needs to continue in an
unbiased and open minded fashion to promote the interchange of ideas that
can hopefully lead to the next breakthroughs in management of exstrophy that
will continue to improve the quality of life of these patients.
Summary of Agreed Upon Surgical Reconstruction Tenants

 Management should be done at an exstrophy center of excellence and with a

multidisciplinary team
Bladder plate should be moist and covered with saran wrap after birth until
closure
Early successful primary closure is paramount to achieve continence later
Osteotomies are necessary if pelvis is closed at >72 hours of life
Close follow-up of upper tracts is important after bladder closure
Multiple procedures are required for to achieve continence and
reconstruction of anatomy
Augmentation with or without catheterizable stoma and bladder neck
closure may be required in those who fail to achieve continence
Sexual Function in the Exstrophy patient
There are reports of adult male exstrophy patients fathering or initiating a
pregnancy that show that fertility is possible in these patients although it may not
be commonplace. Shapiros large series of 2500 patients only documented 38
males who had fathered children [4]. Semen analyses studies comparing men who
underwent primary repair to ureterosigmoidostomy diversion found a normal
sperm count in only one of eight in the closure group and in four of eight in the
diverted group [ ]. These differences were attributed to retrograde ejaculation and
iatrogenic injury during functional closure of the bladder. Another study found that
none of their reconstructed patients could ejaculate normally nor had they fathered
children. Five patients who had not undergone reconstruction had normal
ejaculation and two had fathered children [ ]. This leads to the conclusion that the
male patient is a high risk of infertility after reconstruction. The use of assisted
reproduction in any fashion has been shown by Bastuba and coworkers to be
successful in 13 males with exstrophy that led to successful pregnancy with no
incidence of exstrophy in the offspring [ ].
Woodhouse reported that the sexual function and libido of the exstrophy patient is
normal [ ]. Multiple reports show that erectile function is maintained in a vast
majority after urethral and phallic reconstruction, and that ejaculation is often not
normal but is usually present. Most reported satisfactory orgasms, and described
intimate relationships as serious and long-term [79, ].
The female external genitalia are now routinely fully reconstructed at the time of
exstrophy closure. Previously this reconstruction consisted of a cosmetic
reapproximation of the bifid clitoris and anterior labia to make a fourchette but did

not address the inherent anatomic abnormality of the vaginas location and angle
relative to the abdomen and perineum in exstrophy females [ ]. Further
reconstruction during adolescent years, prior to initiation of sexual activity or use
of tampons in some female exstrophy patients was not uncommon [ ]. An
application of the total urogenital complex mobilization was applied and resulted
in successful correction of the location and angle of the vagina in female exstrophy
patients [81]. Successful intercourse has been reported in all patients in one study
and dyspareunia was reported in a minority [82]. A large series also reported that
female exstrophy patients greater than 18 years of age had normal sexual desires
and many were sexually active with normal orgasms [ ]. Some patients were selfconscious of and limited their sexual activity because of the cosmetic appearance
of their external genitalia. A monsplasty is an important part of reconstruction in
females and use of hair bearing skin and fat to cover the midline defect is routine.
A later repair with the use of rhomboid flaps was reported with good success [ ].
Obstetric and Gynecologic Implications
Many women with bladder exstrophy have successfully delivered normal offspring
(45 women with 49 children in one report) [ ]. Another study showed 40 women,
ages 19 to 36 that were treated for bladder exstrophy as infants, and out of those 40
women 14 pregnancies were reported in 11 women. Out of those 14 pregnancies
were 9 normal deliveries, 3 spontaneous abortions, and 2 elective abortions.
Uterine prolapse occurred in 7 of the 11 patients during pregnancy [ ]. It is seen to
be very common for these women to have cervical and uterine prolapse after
pregnancy and delivery [85]. In these early reports, all women apparently had
undergone prior permanent urinary diversions but recent reports show that
successful pregnancies have been reported in women who have undergone
continent urinary diversions [ ]. Cesarean sections were preformed in women with
functional bladder closures to eliminate stress on the pelvic floor and to avoid
traumatic injury to the urinary sphincter mechanism [85].
Pelvic organ prolapse appears to be a significant problem in female exstrophy
patients. It is commonly seen during and after pregnancy or delivery, possibly in
up to half of patients [82]. It can occur at young ages and without prior sexual
activity or pregnancy [82,83]. The anterior displacement of the vaginal os and
marked posterior displacement of the dorsorectalis sling and its deficient anterior
compartment were theorized as reasons for significant findings of prolapse [64]. It
is felt that more modern reconstruction of the pelvic floor and anatomical
replacement of the bladder into the pelvis and use of osteotomies may improve this
troubling problem. Previous reports showed that uterine suspension was only
modestly successful in prevention of recurrent prolapse [64]. However, Stein
reported that uterine fixation by sacrocolpopexy corrected prolapse in 13 females
with greater than 25 years of follow-up [ ].
Cloacal Exstrophy

Cloacal exstrophy is the most severe defect that can occur in the formation of the
ventral abdominal wall and represents the most severe anomaly of the exstrophy
spectrum that is compatible with viability. This entity is extremely rare, occurring
in 1 in 200,000-400,000 live births [ ]. The male to female ratio has most recently
been reported in a large contemporary study to be equal between the sexes, 1:1
[14]. Most cases are sporadic. However, isolated incidences of unbalanced
translocations have been reported to be potentially causative by Thauvin-Robinet et
al [ ]. Although it is likely multifactorial, genetic studies continue to help determine
potential etiologies.
In the past, children with cloacal exstrophy did not survive past the newborn
period. In 1960, Rickham reported the first patient with cloacal exstrophy to
survive surgical reconstruction [ ]. The omphalocele was repaired, the intestinal
strip was separated from the hemibladders, and the blind-ending colon was pulled
through to the perineum. The hemibladders were then reapproximated. An ileal
conduit was constructed at the age of 18 months and a cystectomy was performed
later. After early reconstruction, the patient was left with two stomas. With
advances in critical care and current anatomic repairs, most patients now can live
well into adulthood. The focus of care and research is now on improving the
quality of life of these patients [ ].
Anatomic Anomalies
Cloacal exstrophy includes findings of exstrophy of the hindgut/bladder complex,
complete phallic separation, wide pubic diastasis, prolapsing terminal ileum,
imperforate anus, and an omphalocele. Cloacal exstrophy is considered part of the
OEIS complex when seen coexisting with omphalocele, imperforate anus, and
spinal defects [ ].
The lower urinary tract is typically composed of two exstrophied hemibladders
adjacent to the midline exstrophied intestinal segment. Each bladder is drained by
its ipsilateral ureter and is in close approximation to the hemiphallus on the
ipsilateral side. Variations, however, are frequent.
Neurospinal Anomalies
Neurospinal abnormalities have been noted in 85-100% of patients with cloacal
exstrophy [ , ] with a distribution of lumbar (80%), thoracic (10%) and sacral
defects (10%). A single center review of 34 patients found 17 lipomeningoceles, 8
myelomeningoceles, 7 with spina bifida, and 2 with isolated cord tethering [92]. It
is also reported that only 1 in 5 children with spinal dysraphism by ultrasound has
a defect appreciated on physical exam [ ]. Since there is an almost ubiquitous
neurospinal defect it is recommended that all cloacal exstrophy patients have a
spinal evaluation by ultrasound or MRI. It is reported that spinal ultrasound
findings are comparable to MRI for the diagnosis of spinal anomalies in newborns

with cloacal exstrophy. Ultrasound is quicker, easier, and less expensive to perform
and does not require sedation [ ]. Therefore, all children with cloacal exstrophy
should have a spinal ultrasound.
The functional deficits in the cloacal exstrophy patient can vary widely from
almost normal sensation of the pelvis and lower extremity to severe impairments
rendering the patient wheelchair bound. The presence of a significant neurologic
deficit is associated negatively with the ability to develop continence [ ].
Schlegel and Gearhart first described the neuroanatomy of the pelvis in the child
born with cloacal exstrophy [ ]. The autonomic innervation to the bladder halves
and corporal bodies arises from a pelvic plexus on the anterior surface of the
sacrum. The phallus is usually separated into a right and left half with adjacent
scrotum or labia. Occasionally, the penis is together in the midline, but the
structure is diminutive and the corporal bodies are small.
The nerves to the hemibladders travel along the midline on the posteroinferior
surface of the pelvis and extend laterally to the hemibladders. The autonomic
innervation of the phallic halves arises from the sacral pelvic plexus, travels in the
midline, perforates the inferior portion of the pelvis floor, and courses medially to
the hemibladder. This more medial location of the autonomic bladder innervation
makes it easy to injure at the time of initial bladder dissection and reconstruction,
which creates a neuropathic bladder [98].
McLaughlin and associates postulated that the embryologic basis for the
neurospinal defects in cloacal exstrophy were secondary to problems with the
disruption of the tissue of the dorsal mesenchyme, not the failure of neural tube
closure [95] It has also been suggested that the defects associated with the
formation of cloacal exstrophy could pull apart the developing spinal cord and
vertebrae [ ].
Skeletal Anomalies
The pelvic defects in cloacal exstrophy are similar in nature but more severe than
that in bladder exstrophy. Sponseller and associates described the pelvic anatomy
using CT scans in the cloacal exstrophy population [ ]. The interpubic diastasis
was found to have a mean of 0.5 cm in controls and 8 cm in cloacal exstrophy
patients, which is almost twice that of bladder exstrophy patients. The anterior
segment length (distance from the triradiate cartilage to the pubis) was 37% shorter
in cloacal exstrophy patients. Also, the angle of iliac wing was markedly increased
at 45-degrees, showing the extreme amount of external rotation. Likewise, the
ischiopubic angle was clearly increased in the cloacal exstrophy children. Overall,
patients with cloacal exstrophy have extreme abnormalities of the pelvis:
asymmetry between the sides, sacroiliac joint malformations, and occasional hip
malformations. The long bone lengths are relatively similar to those with bladder

exstrophy. Microscopically, the bones in children with cloacal exstrophy were

similar to those in normal controls and were seen to develop at a similar rate.
Skeletal and limb anomalies were reported in 12-65% of cases of cloacal exstrophy
[ ]. Most were clubfoot deformities, but absence of feet, severe tibial or fibular
deformities, and congenital hip dislocations were also commonly seen in this group
of patients. This was confirmed by Greenes report of a high incidence of foot
abnormalities and abduction of the hip [ ].
Gastrointestinal Anomalies
Omphaloceles are reported in more than 88-100% of cloacal exstrophy [92,103].
The omphaloceles can vary widely in size and usually contain small bowel
contents, liver, or both. Immediate closure of the omphalocele defect is
recommended to prevent subsequent rupture and evisceration.
Other significant gastrointestinal anomalies were reported in 46% of cloacal
exstrophy patients [ ]. Such anomalies included malrotation, bowel duplication,
duodenal atresia, duodenal web, and Meckels diverticulum. Ultimately, short gut
syndrome is reported in 25% of cloacal exstrophy patients [103]. Short gut
syndrome can also be encountered in the presence of normal small bowel length
suggesting an absorptive dysfunction. The importance of preserving as much
bowel as possible and utilizing the hindgut remnant in bowel reconstruction and
not using it for later urogenital reconstruction as has been performed in the past.
Upper Urinary Tract Anomalies
Several series have demonstrated the common occurrence of upper tract anomalies
(41-60%). The most common anomalies encountered were pelvic kidneys and
renal agenesis, hydronephrosis and hydroureter, which occurred in up to one third
of patients [103]. Multicystic dysplastic kidneys and fusion anomalies were
reported. Ectopic ureters were seen to be able to drain into the vas in the male and
into the uterus, vagina, or fallopian tubes in the female. Ureteral duplication,
congenital stricture, and megaureters were also seen.
Mullerian and Testicular Anomalies
The most common mullerian anomaly reported was uterine duplication (95%)
[103] with most having partial duplication, predominately a bicornate uterus.
Duplication of the vagina (65%) [ ] and vaginal agenesis (25-50%) have also been
reported. Gearhart and Jeffs recommended preserving all mullerian duplication
anomalies for possible utilization in reconstruction of the lower urinary tract [ ].

In two series of reviews by Hurwitz and et al [105] as well as Ricketts and

colleagues [ ], the testes were undescended and found in the groin or abdomen and
commonly associated with inguinal hernias.
Cardiovascular and Pulmonary Anomalies
Life-threatening anomalies of the cardiovascular and pulmonary systems are rare.
However, there are case reports of patients with cyanotic heart disease, aortic
duplication, vena caval duplication, bilobed lung and an atretic upper lobe
bronchus.
Prenatal Diagnosis
Austin and colleagues [ ] established major and minor criteria for the prenatal
diagnosis of cloacal exstrophy based on the incidence of prenatal ultrasonography
findings in 20 patients. Major criteria were found in >50% of cases and included
nonvisualization of the bladder (91%), a large midline infraumbilical anterior wall
defect or a cystic anterior wall structure (82%), an omphalocele (77%), and a
myelomeningocele (68%). The minor criteria included lower extremity anomalies
(23%), renal anomalies (23%), ascites (41%), widened pubic arches (18%), narrow
thorax in (9%), hydrocephalus (9%), and a single umbilical artery (9%). It has also
been suggested to add the characteristic elephant trunk appearance that the
prolapsing terminal ileum can produce [ ]. Regardless of the criteria, the entity is
very rare and still difficult to diagnosis prenatally. When a prenatal diagnosis is
made, the parents should be counseled by an experienced exstrophy genitourinary
surgeon and referred to an exstrophy center of excellence for delivery whenever
possible.
Neonatal Assessment
The care of these complex patients should occur in an exstrophy center of
excellence where there is experience with these patients special issues and
resources are available. The bowel/bladder plates should be kept moist and
protected with warm saline and a clear plastic wrap, as with bladder exstrophy. The
infants condition at birth may be critical and attempts to reconstruct and repair
may be futile or morally and/or ethically unwise. Often the severity of cloacal
exstrophy is enhanced by the nature and severity of the associated anomalies.
Immediate management is intended to medically stabilize the newborn. Evaluation
should involve a multidisciplinary team, as previously discussed, for bladder
exstrophy. A thorough discussion and assessment of all the anomalies is important
for short and long term reconstructive planning. This should include a discussion
regarding gender assignment and should include a disorders of sex differentiation
(DSD) team. Ideally, this team would include a pediatric urologist, pediatric
surgeon, neonatologist, pediatric endocrinologist, and a child

psychologist/psychiatrist. Decisions should only be made after appropriate parental

counseling and education. This often will require a chromosomal analysis.
Gender Assignment
The need for gender reassignment is only an issue in those 46XY male cloacal
exstrophy patients with inadequate phallic structures for reconstruction. As
surgical techniques for phallic reconstruction have evolved, a functional and
cosmetically acceptable phallus can now almost always be constructed [ ]. This is
true even if only unilateral or partial phallic structures are present. This is
obviously a complex procedure that should be managed at a specialized center for
best outcomes, surgically and psychosocially.
In the past male to female gender reassignment for male cloacal exstrophy patients
was commonplace. Presently, it is the general consensus among experts that it is
important to assign gender that is consistent with karyotype in this population if at
all possible. This is supported by work from Mathews and associates showing that
the histology of testis removed at the time of gender reassignment were normal [ ].
Long-term evaluation of those patients whom were gender reassigned at birth has
been studied by Reiner and showed that psychosexual evaluation indicated that all
of these patients had a marked shift in psychosexual development despite having
no pubertal hormonal surges [ ]. An earlier, smaller evaluation showed that
although these patients had masculine childhood behavior, they had a feminine
gender identity in their report [ ]. Another study, which compared cloacal exstrophy
to other cloacal anomaly patients, showed no difference in social or behavioral
competence or psychological problems [].
Immediate Surgical Reconstruction
Cloacal exstrophy patients reconstructive procedures should be carefully planned
and individualized. Among the important decisions to make during the initial
operative planning is whether to perform a one- or two-stage closure. A one-stage
is preferred if possible to minimize the number of neonatal procedures necessary.
This will also allow the bladder to be protected and internalized, thereby reducing
the risk of external trauma, polyp formation and potentially improving its chances
at normal development. During either a one- or two-stage procedure, the
omphalocele is excised, and the bowel is separated from the hemibladders. Care
must be taken when the bowel is separated from the bladder halves to avoid
damage to the blood supply of the bowel mesentery and the autonomic vesical
innervation, which becomes exposed at the medial aspect of the hemibladder. The
lateral vesicointestinal fissure is closed in continuity, and a short colostomy is
created from the end of the distal colon segment. The hemibladders are then reapproximated in the midline to create a single exstrophic bladder. If a one-stage is
selected, the entire bladder is closed completely as in a classic bladder exstrophy

patient. Bilateral osteotomies are performed if done after the first 72 hours of life.
With a large omphalocele defect, bladder closure and osteotomy may be delayed
until respiratory and gastrointestinal stability are achieved [92].
In patients with spinal dysraphism and myelocystocele, a neurosurgical evaluation
should be completed and closure undertaken as soon as the infant is medically
stable. Long-term follow-up is important since up to 33% of children can have
symptomatic spinal cord tethering [95].
Management of the Bowel
Formerly, patients died from fluid and electrolyte loss with a short bowel and
terminal ileostomy. It is now accepted that the best and first priority when
managing the hindgut segment is careful preservation and incorporation into the
gastrointestinal tract to optimize bowel length. It can be used initially as a fecal
colostomy, and it may help absorption and prevent fluid loss [ ] Also as the hindgut
enlarges, if used for a fecal colostomy, it later could be used as a bladder
augmentation or vaginal replacement if nutritional status and prognosis allow
[92, ]. Regardless, the primary emphasis should be on salvaging as much bowel as
possible.
Placement of the colostomy or ileostomy at a favorable location is important. It
should be where it can easily be managed with an appliance. If it is determined as
the child ages and grows that an adequate hindgut exists and there are no
neurologic deficits then a pull through procedure could be preformed via the
posterior sagittal approach [ ]. It is also emphasized that to maximize quality of life
in these patients an aggressive bowel management program should be adopted.
Most of these patients can be good candidates for a pull-through procedure [ ].
Effort should also be made to maintain any appendiceal structures for later
continent stoma construction if necessary.
Management of the Phallus and Vagina
In males with cloacal exstrophy, the penis is usually represented by two widely
separated small phallic structures. Because these structures are rudimentary and
wide apart, reconstruction is challenging. However, when adequate corporal tissue
is present, epispadias repair can be performed at the same time of initial closure, or
later, depending on the situation.
If insufficient phallic tissue is present and female sex rearing is chosen, the medial
aspects of the bifid phallus are denuded of mucosa and brought together in the
midline. This is usually done at the time of bladder closure and osteotomy. If there
is a single phallic structure in the midline (20% of patients) the urethral plate is
dissected and the corporal bodies dropped between them to the perineum for a
urethral opening. The corpora and glands are then recessed for more appropriate

female appearance and the labial folds are created from the scrotum by a posterior
Y-V plasty. It should be reemphasized that if at all possible these patients should be
maintained and reared according to their genetic sex.
Correction of genital anomalies in girls is usually done at the time of bladder
closure and osteotomy. The medial aspect of the hemiclitoris is denuded of mucosa
and the halves are brought together. Commonly, duplicate vaginas are far apart and
on opposite sides of the pelvis. In the unusual case of the vaginas being close
together, they should be joined in the midline and used for later reconstruction. The
ostia of the vaginas may be difficult to find at the time of the initial closure, and the
surgeon should be aware that they could enter the posterior walls of the bladder. It
is acceptable to leave the vaginas in situ but further surgery will be need to bring
one of these to the perineum.
In the genotypic male patient raised as a female, the vagina usually created at the
time of puberty. In the past, vaginas have been created by anatomic scraps such
as portion of the duplicated bowel, unneeded dilated ureters, or a few centimeters
of the distal colonic segment. Therefore, it is debated to wait until puberty and
whether or not to construct a vagina from intestine or from a free full-thickness
skin graft. There is little data of the neovagina in the cloacal exstrophy patient, but
as more of these patients reach puberty, experience with this entity will increase,
and long-term information will be available.
Lower Urinary Tract Reconstruction
In the one-stage complete primary repair of exstrophy that is applied to cloacal
exstrophy, the hindgut is excised and incorporated into the colostomy as previously
described. The two hemibladders are re-approximated in the midline and the
omphalocele is repaired and closed giving the appearance of a classic bladder
exstrophy patient. The complete primary repair may be attempted in cases where
the patient is hemodynamically stable, the omphalocele is small, the pubic diastasis
is not wide, and pulmonary function is adequate to tolerate an increased intraabdominal pressure. If these criteria are not met, the patients bladder plate should
again be covered and maintained with a plastic wrap with frequent irrigation with
saline until the time of definitive management [ ].
If the patient is deemed an adequate candidate the next steps in the complete
primary repair can be initiated. Complete penile disassembly and division of the
intersymphyseal band are crucial steps to allow for posterior positioning of the
bladder and urethra. Then reconstruction of the bladder, penis, abdomen, and pelvis
approximates the normal anatomy. Osteotomies are almost always necessary to
assist in closure and posterior placement of the lower urinary tract [120].
Postoperative drainage and immobilization are important via ureteral stents, a
suprapubic tube and possibly a urethral catheter along with traction and casting
similar to that in classic bladder exstrophy.

Osteotomies can be performed with this procedure in cloacal exstrophy patients, as

can be done with classic bladder exstrophy closures. If performing a one-stage
closure, the pubic bones and pelvis can be re-approximated in the same fashion as
in the complete primary repair of classic bladder exstrophy. Regardless, the goal is
to achieve tension-free approximation of the widely separated pubic bones and of
the anterior abdominal wall. Anterior osteotomy also provides large cancellous
surfaces with good healing potential. Furthermore, in cases of extreme pubic
diastasis, combined anterior innominate and posterior osteotomy may be done
within the periosteum through the same skin incision for better correction. The
importance of osteotomy at the time of cloacal exstrophy closure has been
demonstrated by Ben-Chaim and colleagues, who showed that 9 of 22 patients
were closed without osteotomies and 89% of them had significant complications
(dehiscence, vesicocutaneous fistula, prolapse) while there were complications in
only 2 of 12 who had an osteotomy at the time of initial cloacal exstrophy closure
[ ]. Silver and associates have applied a novel approach to osteotomy in cloacal
exstrophy patients with failed prior closures or extreme diastasis [ ]. In this
approach, osteotomy is performed along with external fixator placement followed
by soft tissue and pelvic ring closure two to three weeks later after the pelvis has
been gradually reduced by fixator approximation.
Management of Urinary Incontinence
Incontinence of urine is managed by diapering only during the early years.
Intermittent catheterization is likely to be needed for emptying after any procedure
to enhance outlet resistance. This may be due in part to spinal defects, which can
cause a neurologic deficit in bladder function, or to a small bladder capacity, which
may require augmentation. In both instances, bladder detrussor activity usually is
impaired. In cases closed with complete primary repair, a bladder septum may play
a role in poor bladder function and is hypothesized to be related to residual hindgut
remnants that are incorporated in the closure and an alternate procedure may be
required to separate this septum when it is identified [120]. The role of bladder
outlet repair in cloacal exstrophy is minimal. Husmann and associates clearly
showed a very marked difference in continence results between cloacal exstrophy
and classic bladder exstrophy [97]. This is likely due in large part to co-existing
neurologic abnormalities. Surgery to produce a continent reservoir should be
delayed until the child is old enough to participate in self-care. The choice between
a catheterizable urethra or an abdominal stoma depends on the adequacy of the
urethra and bladder outlet, the intellect and dexterity of the child, and the childs
orthopedic status as regards to the spine, hip joints, braces and ambulation.
Occasionally, hindgut is available for bladder enhancement, but ileum has
traditionally been used. In an effort to avoid further loss of absorptive surface by
preserving both hindgut and ileum, Adams and colleagues have used stomach for a
gastrocystoplasty with good success although long-term cancer concerns exist [ ].
Regardless of which bowel segment is chosen, bladder augmentation should be

delayed until bowel function is mature and nutrition and acidosis are no longer a
problem.
Some patients with a minimal neurological lesion have a functioning bladder and
can void through a reconstructed bladder outlet. Innovative methods may be
needed, however, to construct a continent outlet in patients without substantial
native urethral tissues. These techniques include use of vagina to form a urethra,
with reimplantation of the vagina into the bladder for continence, or an ileal nipple,
as described by Hendren [ ]. Urinary continence is possible in most children but
usually will require a bladder augmentation and intermittent catheterization in
some form [64].
Long-Term Psychological and Psychosexual Issues
With improved survival and reconstructive surgery, long-term adjustment issues
have become paramount. Reiner has reported on six children who had undergone
gender reassignment, all with developmental difficulties [ ]. None had undergone
replacement with exogenous female hormones and most expressed typical male
behavior. Two had spontaneous gender assignment and assigned themselves back
to the male sex. All had extensive family counseling at birth as well as continued
counseling through childhood for the parents and children. In contrast, Shober
reported 46 XY cloacal exstrophy patients whom all had feminine typical core
gender identity on long-term follow-up [ ]. The patients will have to be followed
into adult life for appropriate decision-making and information to be obtained.
Also, in the same study, regardless of karyotype, the quality of life of those patients
raised female sex was good. All disliked their colostomy and the need to
catheterize but the quality of life was rated high.
Summary
The management of cloacal exstrophy has improved to provide more quality of life
for these children. Complete reconstruction in the newborn period seems to be the
best approach if the infants condition allows. Neurological and gastrointestinal
management takes precedence over urological and genital repair and the hindgut
should be primarily incorporated to maximize bowel length and function.
Improvements in neurological evaluation have served to reduce life-threatening
complications and the progression of neurological deficits. Urinary incontinence is
now possible in most children but requires further reconstruction. Current surgical
reconstructive techniques have advanced enough that many more XY patients can
be reconstructed and reared male, which appears to be the optimal choice;
however, further long-term evaluations are needed to assess their satisfaction.
Advances in tissue engineering and stem cell research will likely allow congruent
rearing of all male patients with cloacal exstrophy. Further long-term research is
mandatory to continue progress in the treatment of these interesting children at

specialized centers with experience managing these complex issues with a

multidisciplinary team approach.
Palmer et al figure legends
Figure 1. Newborn with classic bladder exstrophy.
Figure 2: 30 weeks gestation ultrasound demonstrating nonvisualization of the
bladder and a lower abdominal mass.
Figure 3: Sagittal view of bladder exstrophy (mass) below abdominal insertion of
the umbilical cord (AIC) on T2 prenatal MRI.
Figure 4: A, displacement of levator (Lev.) ani to more posterior (Post.) position in
patient with exstrophy, that is 68% posterior to anus versus normal controls. Also
note shortened anterior (Ant.) segment of levator ani in exstrophy 32% anterior to
anus versus 48% in controls. Obt. int., obturator internus.B, greater outward
rotation of 15.1 degrees of obturator internus in exstrophy group versus controls.
Also note that area encompassed by puborectalis is 2-fold that of controls and more
flattened.
Figure 5: Penile and pelvic measurements in normal men and patients with
exstrophy. ZSD, intersymphyseal distance. UCC, corpora cavernosa subtended
angle. Cdiam, corpus cavernosum diameter. PCL, posterior corporeal
length. ZCD, intercorporeal dlstance. ACL, anterior corporeal length. EL,total
corporeal length
Figure 6: Newborn with classic bladder exstrophy. Note multiple polyps on bladder
plate.
Figure 7: Intubation of bilateral ureteral orifices in preparation for dissection.
Figure 8: Marking of urethral plate. Notice two traction sutures on each
hemiglans.
Figure 9: Aggressive bladder mobilization, including the umbilicus.
Figure 10: Identification of bilateral corporal bodies after degloving of phallus.
Figure 11: After separation of the corporal bodies and mobilization of the urethral
plate.
Figure 12: After complete separation of the corporal bodies and glans.
Figure 13: Placement of suprapubic tube prior to bladder closure. This will exit the
abdomen at the umbilicus.
Figure 14: Bladder and urethra closed in 2 layers as a single unit. Note bilateral
ureteral catheters exiting via the urethral meatus.
Figure 15: Internal rotation of the pelvis to reapproximate the pubis when
reconstructed in the first 72 hours of life can be accomplished.
Figure 16: Phallus reconstruction.
Figure 17: Fascial closure.

Figure 18: Abdominal wall closure.

Figure 19: Modified Bryants traction.
Figure 20: Postoperative.
Figure 21: Newborn with cloacal exstrophy.
Figure 22: Prenatal ultrasound of female with cloacal exstrophy. Note complex
anterior abdominal wall mass inferior to the umbilical cord insertion. No bladder is
visualized.
i Hsieh K, OLoughlin MT, Ferrer FA. Bladder Exstrophy and Pheontypic Gender
Determination on Fetal Magnetic Resonance Imaging. Urology 2005; 65:998-999.
ii Hsieh K, OLoughlin MT, Ferrer FA. Bladder Exstrophy and Pheontypic Gender
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Figure 1

Figure 5

Figure 6
Hsieh K, OLoughlin MT, Ferrer FA. Bladder Exstrophy and Pheontypic Gender
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