Societies for Pediatric Urology Societies for Pediatric Urology
Dialogue Archives: New Concepts in the Management Of Cloacal Exstrophy
(Volume 23, Number 3, March 2000)


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Guest Editor: John S. Wiener, MD
THE CHOP EXPERIENCE WITH CLOACAL EXSTROPHY: THE MEDICAL, SURGICAL AND SOCIAL ASPECTS
Joel C. Hutcheson, MD Stephen A. Zderic, MD
NEW CONCEPTS IN BOWEL RECONSTRUCTION IN CLOACAL EXSTROPHY
Alberto Pefia, MD
STAGED APPROACH TO THE MANAGEMENT OF CLOACAL EXSTROPHY
Ranjiv Mathews, MD John P. Gearhart, MD
SINGLE STAGE RECONSTRUCTION OF CLOACAL EXSTROPHY
J. Chadwick Plaire, MD Michael E. Mitchell, MD
PERTINENT PSYCHOSOCIAL MARKERS IN CHILDREN WITH CLOACAL EXSTROPHY
William G. Reiner, MD
Editor
Richard M. Ehrlich, MD
Clinical Professor of Surgery/Urology
School of Medicine
University of California, Los Angeles
Publisher
William J. Miller
GUEST EDITOR'S NOTES:
The impetus behind this issue's topic began when I faced the daunting task of directing the care of two newborn cloacal exstrophy patients in my first year of practice. The complexity of this endeavor is evident from the fact that patient survival with this malformation was not reported until my lifetime. However, the majority of information on the management of cloacal exstrophy consists of a few paragraphs in textbooks and random journal articles, and to my knowledge, no organized format dedicated to the topic exists.
In this issue, I planned to bring together the ideas and experiences of some of my heroes in reconstructive surgery who have developed innovative solutions to this most challenging condition. Joel Hutcheson and Stephen Zderic provide a thorough overview of the vexing clinical issues involved in managing cloacal exstrophy and they review the 30-year experience with these patients at Children's Hospital of Philadelphia. Alberto Pefia, a pioneer in reconstruction of anorectal malformations, graciously agreed to share with pediatric urologists his encouraging results with the radically new concept of bringing the fecal stream down to the perineum in some cloacal exstrophy patients following initial diversion. From The Johns Hopkins Hospital, Ranjiv Mathews and John Gearhart present their extensive experience with the staged approach to cloacal exstrophy now widely regarded as the gold standard to which newer techniques must be compared. At recent meetings, the single stage approach to classic exstrophy from Seattle has garnered enthusiasm and in this issue Chad Plaire and Mike Mitchell detail the adaptation of the single stage approach to cloacal exstrophy.
Additionally, the past few years have witnessed equally
SUBJECT OF CONTROVERSY: CLOACAL EXSTROPHY
important nonsurgical developments in the management of cloacal exstrophy. Pediatric urologists have been forced to grapple with the long-term results of urogenital reconstruction as adult patient support groups have voiced their dissatisfaction. This discussion has recently spilled over from intersex disorders to cloacal exstrophy. At the National Institutes of Health sponsored symposium on Intersex prior to the American Urological Association meeting in Dallas in May 1999, a great deal of discussion centered around the consequences of gender reassignment, specifically as it related to XY males with cloacal exstrophy (although technically not a intersex disorder). Bill Reiner, a board-certified urologist and child psychiatrist, has broken new ground in exploring the psychological consequences of gender reassignment. In this issue, he discusses additional psychosocial ramifications found in cloacal exstrophy patients of both sexes as they progress through childhood.
John S. Wiener, MD
Head, Section of Pediatric Urology, Duke University Medical Center, Durham, North Carolina
JOEL C. HUTCHESON, MD STEPHEN A. ZDERIC, MD
The Children's Hospital of Philadelphia, Pennsylvania
The CHOP Experience with Cloacal Exstrophy: The Medical, Surgical and Social Aspects
Cloacal exstrophy, also known as vesicointestinal fissure or exstrophia splanchnia, is the most severe defect that can occur in the formation of the ventral abdominal wall, resulting in the bladder and hindgut being herniated onto the abdominal wall. One of the most devastating of the birth defects challenging the pediatric surgeon and urologist, it is fortunately extremely rare occurring one in every 200,000 to 400,000 live births. In addition to the malformations of the bladder and hindgut, anomalies of the vertebra (most commonly myelomenigocele), kidneys, lower extremities, and omphalocele frequently occur in association. Prior to 1960, the condition was uniformly fatal, usually secondary to malabsorption from "short gut syndrome" and/or sepsis. Most parents of that time opted for no heroic measures. There are reports from the 1950s of attempts at reconstruction, but it was not until 1960 that Rickham reported the survival of a child up to age 20 months after neonatal reconstruction.2 Over the past 40 years, major developments in hyperalimentation, preservation of the hindgut, prenatal diagnosis and counseling, intensive care and surgical correction have changed the outlook for these patients with up to a 90% survival rate.1 However, due to the severity of the malformation, we are still faced with Willis Potts's observation that no amount of surgery can render an anatomically normal child.3
The first prenatal diagnosis of cloacal exstrophy was reported in 1985 and Austin has recently described the prenatal ultrasound findings of cloacal exstrophy.* Nonvisualization of the bladder should herald the possibility that an exstrophic condition may be present. Major criteria (present in 50% or more of cases) for the antenatal diagnosis of cloacal exstrophy include: nonvisualization of the bladder, large midline infraumbilical anterior wall defect or cystic anterior wall structure,
omphalocele, and myelomenigocele. Minor criteria include: lower extremity defects; renal anomalies; ascites; widened pubic arches; narrow thorax; hydrocephalus, and a single umbilical artery. These criteria are sensitive and allowed for an accurate diagnosis in 19 of 22 patients in this combined series. Today, maternal fetal magnetic resonance imaging (MRI)is an important adjunct in confirming the diagnosis.
With reliable prenatal diagnosis, prenatal counseling should be undertaken to insure that the parents receive as much information and support as possible regarding the postnatal and long-term outcomes for these children. If the decision is made to proceed with the pregnancy, the mother should deliver at or near a tertiary care facility in order to optimize the postnatal treatment. Fetal surgery continues to evolve and in utero management of these infants may prove feasible with further refinements. Today, in utero closure of spina bifida has been successfully undertaken and may be applicable in this setting.5 However, in light of the devastating nature of this condition, many parents have opted for termination of the pregnancy upon confirmation with a maternal fetal MRI. It has been our impression that the incidence of cloacal exstrophy is decreasing based on the number of new referrals. This trend may skew the patients we see in the future towards those whose parents are younger or single parents with more limited access to prenatal care. This will likely increase the necessity for support services for the special needs of these children and their families.
One devastating aspect of this malformation in male patients is the condition of the phallus, which is bifid in the majority of cases but may be absent or rudimentary in up to 30%.6 The phallic halves are usually widely separated in association with a wide pubic diastasis. Because of the severity of this defect, reconstructive efforts have often been unsatisfactory and many authors have advocated gender reassignment with female sex of rearing. Bilateral orchiectomy has been carried out early in life and vaginal reconstruction is considered at puberty. In 1970, Tank and Lindenaur strongly recommended that males with cloacal exstrophy be raised as females because of the almost uniform disappointment in trying to reconstruct inadequate genitalia into a workable male phenotype.7 Husmann and coworkers described poor psychosexual adaptation and feelings of inadequacy in a group of males who had undergone phallic reconstruction and thus recommended strong consideration of gender conversion.6
This paradigm of gender conversion was based on the assumptions that individuals are gender neutral at birth and that the appearance of the genitalia is crucial to the psychosexual development of the child. However, with the "Joan/John" case report of a long-term outcome as described by Milton Diamond as well as a growing amount of research in the field of developmental endocrinology, the paradigm is shifting.8 Today, it is becoming more accepted that individuals are not psychosexually neutral at birth and that, though important, the appearance of the external genitalia is not the sole factor in determining the overall development of an individual's gender identity.8 Reilly and Woodhouse documented that postpubertal boys with micropenis and thus "inadequate" phalli, could function normally.9
Over the past 30 years at the Children's Hospital of Philadelphia, our approach to children with cloacal exstrophy has stressed primary bladder closure, tubularization of the cecal plate with preservation of the hindgut, and creation of a colostomy and genitoplasty performed in the first 24-48 hours of life. Our series is comprised of 24 patients with 22 long-term survivors. One child died of sepsis after a silo procedure in the neonatal period and one of hepatic failure associated with hyperalimentation at age two. In children with large omphaloceles, silo procedures have been used in four, with three surviving. Because of the high incidence of spinal anomalies, we have not advocated pull through procedures; a permanent colostomy exists for 20 of 22 patients. With regard to urinary continence, a urostomy is present in six of 22, continent reconstruction has been achieved in five of 22, and 11 of 22 await reconstruction.
Seventeen patients have been genetic males and of these, five were raised in the male role while 12 were reared female postorchiectomy. The timing of orchiectomy was usually within the first 24-48 hours although in two cases, it was carried out at ages three months and 10 years, respectively. Of the 12 female patients, five show a preference for traditionally male activities, and two have expressed difficulties about their sense of gender identity. Within our population of male patients, the quality of phallus is poor, and this has lead to depression and significant social isolation in one patient.
Regardless of the gender of rearing, these children face multiple physical and psychological challenges in order to grow and develop as normally as possible. We believe that the team approach to the evaluation of these patients In an age where shifting paradigms of gender management demand reporting of long-term follow-up and outcomes of surgical reconstruction, the second observer (nonsurgeon) is critical because the surgeon-patient relationship is not always objective. To that end, we have relied on the expertise of a clinical psychologist as an integral member of our team.
In light of these recent developments, our goal has been to maintain a dialogue with these patients and families about social, developmental, and gender-related issues. In the past, issues of gender and sexuality for these patients and families were not emphasized. Today, patients have more access than ever to medical information via the Internet and access to support groups to help inform them on how to cope with their condition. It is thus imperative that a dialogue be initiated with the patients and families to insure that the healthcare provider can play a role in providing honest, accurate information and counsel. It is crucial that this dialogue not be delayed until adolescence or adulthood and is initiated at birth (or antenatally once an accurate diagnosis is made).
References
1. Canning DA, Koo HP, Duckett JW: Anomalies of the bladder and cloaca. In: Adult and Pediatric Urology, (3rd ed.), Gillenwater JY, et al, eds. Mosby, St. Louis, pp. 2445-2488.1962.
2.  Rickham PP: Vesicointesinal fissure. Arch Dis Child, 35:97, 1960.
3.  Potts WJ: The deformed child.In: The Surgeon and the Child. Saunders, pp. 5-9, Philadelphia, 1959.
4. Austin PE, Homsy YL, Gearhart JP, et al: The prenatal diagnosis of cloacal exstrophy. J Urol, 160:1179, 1998.
5. Adzick NS, Sutton LN, Crombleholme TM, et al: Successful fetal
surgery for spina bifida. Lancet, 352 (9141):1675, 1998.
6.  Husmann DA, McClorie GA, Churchill BM: Phallic reconstruction in cloacal exstrophy. J Urol, 142:563,1989.
7. Tank ES, Lindenaur SM: Principles of management of exstrophy of the cloaca. Am J Surg, 119:95, 1970.
8.  Diamond M: Pediatric management of ambiguous and traumatized genitalia. J Urol, 162:1021, 1999.
9.  Reilly JM, Woodhouse CRJ: Small penis and the male sexual role. J Urol, 142:569, 1989.
ALBERTO PENA, MD
Chief of Pediatric Surgery, Department of Surgery, Schneider Children's Hospital, New Hyde Park, NY
New Concepts in Bowel Reconstruction in Cloacal Exstrophy
Primary fecal continence following repair of a cloacal exstrophy is uncommon. The majority of treated patients live with a permanent fecal stoma.
Since this defect affects the gastrointestinal tract as well as the genioturinary tract, these patients are frequently treated by at least two groups of pediatric surgical specialists, general pediatric surgeons and pediatric urologists. Both groups frequently work independently without a specific master plan in mind. Because of this, sometimes the limited amount of colon that these patients have is used to reconstruct the genitourinary structures, thus limiting the possibilities of successful intestinal reconstruction and further bowel control or successful bowel management in these patients.
The common misconception when describing cloacal exstrophy patients is the assumption that they are born with minimal or no colon. While this assertion is often true, we have found that this defect represents a wide spectrum that includes patients with minimal or no colon on one side of the spectrum but also patients with normal colonic length on the other.
We have found that this length of the colon and the capacity to form solid stool are critical factors in deciding whether or not a patient is a candidate for a pull through. When the decision is made to use bowel to reconstruct a component of the genitourinary system independently by a pediatric urologist without the participation of a pediatric surgeon, the possibility of undergoing a colonic pull through is frequently lost. The decision to perform a pull through in these patients should be made before the gentiourinary reconstruction is considered and should be based on the potential that the patient has for fecal continence or successtul bowel management, either will leave the patient clean following the repair.
Most pediatric surgeons believe that this decision should be based on the quality of the sphincter mechanism and the integrity of the spine and sacrum. We believe that contrary to this, the decision should be made based on the capacity to form stool which depends primarily on the length of the patient's colon. On the other hand, the presence of a good anal sphincter and a normal sacrum, which is very unusual, should not necessarily be a universal indication for a pull through since a patient with these findings and liquid stools will still be fecally incontinent.
SUBJECT OF CONTROVERSY: CLOACAL EXSTROPHY
Conversely, a patient with very poor sphincters and a dysplastic sacrum, with or without a meningocele, may be a candidate for a pull through provided he has enough colon to form solid stool. This last characteristic will allow him to remain clean with a bowel management regime in the likely event that he does not achieve primary fecal continence. If it is decided that a patient with marginal colonic length will undergo a pull through, the pediatric urologist should plan the genitourinary reconstruction with the assumption that colon should not be used. If it is decided that a patient will require a permanent fecal stoma, the pediatric urologist is then free to use colon or small bowel for the reconstruction.
All these considerations are based on the experience of dealing with 25 patients with cloacal exstrophy between 1976 and 1999. The first eight patients underwent a posterior sagittal approach to pull the bowel down. However, the remaining 17 patients were operated on using an anterior sagittal approach that we are now convinced is far superior since these patients are born with separated pubic bones.
We specifically emphasize the need for all pediatric surgeons to try to preserve every single piece of colon that these patients have. At the time of colostomy opening, the surgeon must be sure to incorporate into the fecal stream all pieces of available colon, creating an end colostomy. We have found that apparently little pieces of colon will grow significantly provided the stool passes through it. Surprisingly, small pieces of colon reach meaningful size and develop a very significant capacity to absorb water. One year after the original colostomy, the length of colon and its water absorption capacity should be evaluated. For this, a colostogram is performed to evaluate colonic length. Sometimes it is quite obvious that the patient has a normal or almost normal colonic length and is capable of forming solid stool; therefore, we consider that patient a candidate for a pull through. However, many times in these patients, the length of the colon is less than optimal. If we are not sure as to whether or not the patient is capable of forming solid stools, a bowel management program can be implemented through the stoma itself to see if the patient can form solid stool and remain completely free of stool through the stoma for 24 hours. In other words, we teach the parents how to give an enema through the stoma and provide, if necessary, a constipating diet and administration of a medication to slow down the colonic motility. This way, the parents also have the opportunity to learn about the quality of life that the patient will have with that kind of bowel management if the bowel is subsequently pulled down to the perineum, since the same bowel management required to keep the colostomy clean 24 hours will be necessary in the event of a pull through. The bowel management consists in giving an enema every day and maintaining a constipating diet and taking medication.
Following this protocol, three of our children are surprisingly primarily fecally continent and do not soil. Four children are fecally continent but occasionally do soil. Two children now live with permanent ileostomies because we concluded that they did not have enough colonic length to form solid stool and therefore, were not considered candidates for the pull through; their original lengths of
colon were 7 and 10 cms respectively. Eleven patients are clean with the help of a bowel management routine. Four additional patients are candidates for bowel management but this has not been implemented because of their ages. Finally, one patient remains fecally incontinent and refuses to receive the bowel management. In two of our patients, we performed a colonic salvage procedure because they underwent colostomies at other institutions and the surgeons left pieces of colon out of the fecal stream. Our operation included the reincorporation of those pieces of colon into their fecal stream.
We have found in our anorectal malformation population that the vast majority of children prefer the quality of life provided by a good bowel management program rather than a permanent stoma. Patients should be considered a candidate for a colon pull through only when the bowel management applied through the stoma has been successful. Lack of response to this bowel management routine is considered by us a contraindication for pull through even with the presence of a normal sacrum and good sphincter since in our experience, it is destined to fail.
Cloacal exstrophy continues to test the limits of how much we as surgeons can do to repair what at first sight may seem hopeless. It is absolutely vital that a total master plan be instituted from birth which takes into consideration all the pertinent issues already mentioned.
RANJIV MATHEWS, MD
Division of Pediatric Urology, SUNY Health Science Center, Syracuse
JOHN P. GEARHART, MD
Division of Pediatric Urology, Brady Urological Institute, The Johns Hopkins Hospital, Baltimore, MD
Staged Approach to the Management of Cloacal Exstrophy
The management of the child with cloacal exstrophy remains a daunting challenge even today. Improvements in management have permittted a shift in focus from improving life expectancy to improving quality of life.1 Although the staged management of the genitourinary defect is addressed in isolation in this manuscript, management of all aspects of this complex defect are interrelated.
Primary reconstruction. The initial management of the newborn infant with cloacal exstrophy focuses on stabilizing the medical status. Intensive care management is usually the norm. Management of the spinal cord defect and gastrointestinal tract take precedence over genitourinary reconstruction. Neurosurgical closure of the spinal defect is performed as the initial surgical endeavor. Following this, intestinal diversion to ileostomy or colostomy is performed with preservation of the hindgut remnant.
Initial genitourinary evaluations include determination of size of the bladder halves, size of phallic tissue and extent of pubic diastasis. Upper tract evaluation is required as anomalies may be noted in almost 50% of children.1 In girls, the location of the clitoral halves and presence of
vaginal or uterine duplications should also be evaluated. Endoscopy is helpful and is performed for identification of relevant anatomy. Appropriate parental counseling and early involvement with pediatric psychiatry to work through issues of gender assignment are essential in the management of cloacal exstrophy. Recent data indicate that gender assignment inconsistent with chromosomal sex may lead to later gender dysphoria.2
Genitourinary management is commenced at the time of initial bowel diversion. If the bladder halves are diminutive, they may be brought together in the midline to form part of the abdominal wall closure, leaving a "residual" bladder exstrophy.3 This will give the bladder plate an opportunity to grow to adequate size for later reconstruction. Bladder excision and urinary diversion are infrequently performed. Infants that have adequate bladder halves can have initial bladder closure at the time of intestinal diversion. Pubic diastasis is usually significant and osteotomies are recommended for most children.4 External fixation of the pelvis is maintained for six weeks following abdominal wall closure.5 Bladder closure is performed in a manner similar to that described for bladder exstrophy. In girls, complete reconstruction with urethral reconstruction and approximation of the clitoral halves is performed. In boys, the epispadiac urethra is left widely patent and incontinent. Significant abdominal wall dissection may be needed to cover the abdominal wall defect. Postreconstruction respiratory distress can be problematic. Management with nasogastric and suprapubic tube drainage with appropriate pain control in an intensive care setting is essential to stabilize the reconstruction. In infants with inadequate bladder tissue, reconstruction may be delayed several months while bladder growth occurs. Bladder closure may then be performed at a later date. Children with minimal bladder tissue may have early urinary diversion with later reconstruction to a continent pouch.6 In boys undergoing delayed closure, epispadias repair may be combined with bladder closure using osteotomy. Penile reconstruction usually requires some innovation as corporal halves may be unequal. Children having adequate bilateral corporal tissue are reconstructed using a modified Cantwell-Ransley epispadias repair.
Bladder neck reconstruction (BNR) is delayed until four to five years of age when children develop adequate bladder capacity and are able to cooperate with voiding program. A modified Young-Dees-Leadbetter (BNR) is performed. However, the potential for a child to void spontaneously and be continent following reconstruction is small due to the underlying neurological lesions present in most children.7
Secondary reconstruction. Children presenting late or following prior reconstruction usually have had neurosurgical and gastrointestinal management. Initial evaluation should include ultrasonographic reevaluation of the upper tracts. Extent of the pubic diastasis may be evaluated with a plain abdominal film. Patients with wide pubic diastasis may require staged pelvic closure.8 Osteotomy is performed approximately one to two weeks prior to final abdominal wall closure and an external fixator placed. The pelvis is then brought together with gradual daily tightening of the fixator at the bedside under appropriate sedation. Once approximation has been
confirmed with follow-up radiologic studies, bladder and abdominal wall closure are performed. Fixation and traction are maintained for 6-8 weeks. Children with lower extremity deformities may require additional orthopedic maneuvers for appropriate traction to be maintained.
Genital reconstruction in girls is always performed at the time of bladder closure while in boys epispadias repair may be combined with bladder closure following preoperative intramuscular testosterone stimulation. Patients that have had gender reassignment (male-female) have later construction of a neovagina using the residual hindgut segment if available or with expanded perineal skin.1
Urologic results of staged approach. Reconstruction was performed using the approach described above in 37 children. Continence results are evaluable in 32 children. Further augmentation has been required in 17 children (nine with hindgut and eight with ileum). Three patients had diversion to ileal conduit. Eleven children are continent on clean intermittent catheterization (CIC) through a continent stoma, five are continent with CIC per urethra, and one patient is voiding and continent. Twelve children remain incontinent, eight of whom are still awaiting surgery for continence.
Conclusions. The staged reconstruction of cloacal exstrophy remains the standard against which all future reconstructive efforts will be measured. A multidisciplinary approach to management is ideal since intensive postoperative nursing care is required for successful outcomes. Continence is possible in a majority of children. Improvements in surgical reconstruction and perioperative care have assured survival and have redirected the focus of reconstruction to improving cosmetic and functional outcomes.
References
1.  Mathews R, Jeffs RD, Docimo SG, et al: Cloacal exstrophy: Improving the quality of life. J Urol, 160:2452-2456, 1998.
2.  Reiner WG: Psychosexual development in children following gender reassignment. Personal communication. 1998.
3. Gearhart JP, Jeffs RD: Exstrophy of the bladder, epispadias and other bladder anomalies.ln: Campbell's Urology, (7th ed.), Walsh PC, Retik AB, Stamey TA, Vaughan ED Jr (eds.). Philadelphia : WB Saunders Co. Vol 2, Ch 63 pp1939-1984, 1997.
4. Ben-Chaim J, Peppas DS, Sponseller PD, et al: Applications of osteotomy in the cloacal exstrophy patient. J Urol, 154(2 Pt 2):865-7,1995.
5.  Gearhart JP, Forschner DC, Jeffs RD, et al: A combined vertical and horizontal pelvic osteotomy approach for primary and secondary repair of bladder exstrophy. J Urol, 155:689-693, 1996.
6. Stolar CGH, Randolph JG, Flanigan LP: Cloacal exstrophy: individualized management through a staged surgical approach. JPedSurg, 25:505-507, 1990.
7.  Husmann DA, Vandersteen DR, McLorie GA, et al: Urinary continence after staged bladder reconstruction for cloacal exstrophy: the effect of coexisting neurological abnormalities on urinary continence. J Urol,
161 (5):1598-602, 1999.
8. Silver Rl, Sponseller PD.Gearhart JP: Staged closure of the pelvis in cloacal exstrophy: first description of a new approach. J Urol, 161:263-266, 1999.
YOUR RESPONSE
We welcome your comments on the subject of this and other issues of this publication. Please send them to Richard M. Ehrlich, MD, 100 UCLA Medical Plaza, Suite 690, Los Angeles, CA 90024.
SUBJECT OF CONTROVERSY: CLOACAL EXSTROPHY
J. CHADWICK PLAIRE, MD MICHAEL E. MITCHELL, MD
Children's Hospital and Regional Medical Center, Seattle, WA
Single Stage Reconstruction of Cloacal Exstrophy
Introduction. The exstrophy complex represents a spectrum of congenital abnormalities that includes the following conditions: epispadias, classic bladder exstrophy, and cloacal exstrophy. These three deformations comprise a continuum with epispadias representing the least severe, classic bladder exstrophy the most common, and cloacal exstrophy the most severe. Cloacal exstrophy is extremely rare, occurring at a rate of approximately one in every 200,000 to 400,000 live births.1 Although primarily a ventral abdominal wall defect, cloacal exstrophy is associated with varying degrees of abnormalities in the genitourinary tract, bowel, spine, and lower extremities. Until recently, most children with cloacal exstrophy did not survive infancy because of the complex multiple system abnormalities resulting in fluid and nutritional defects. However, primarily due to advances in perinatal care and total parenteral nutrition, the survival rate is now greater than 90% for patients born with cloacal exstrophy. Therefore, issues such as surgical reconstruction, gender assignment, and quality of life are now the focus of attention in these patients.
Cloacal exstrophy is not in the strictest sense an intersex condition. Patients with cloacal exstrophy have no ambiguity of their chromosomes or gonads. They, furthermore, have a prenatal hormonal milieu consistent with their genetic sex. Nevertheless, in the past, most children born with cloacal exstrophy and a 46XY genotype were raised as females. These children were raised as females because the diminutive, bifid phallus was thought to be inadequate for reconstruction. Until recently, surgical procedures to reconstruct a functional phallus were lacking and most surgeons thought that it was easier to construct a vagina than to assemble a functional penis. Also, data from previous literature suggested that if reassigned at a young age, children do well in the gender of raising regardless of their true genetic sex.2 As a result, the majority of 46XY patients with cloacal exstrophy underwent orchiectomy in the newborn period and were raised as females. Later in life, a vagina was surgically created to allow for sexual intercourse.
A minority of the patients born with a 46XY genotype and cloacal exstrophy were thought to have an adequate phallus for reconstruction at birth and were raised as males. In 1988, Husmann and colleagues reported extremely poor psychological outcomes in a small retrospective series of eight cloacal exstrophy patients with a 46XY genotype that were raised as males.3 Specific reasons for the poor psychological profiles were not clear and may have been related to associated medical disabilities. Although this study raised concerns about male gender assignment in these patients, no long-term studies adequately document the biopsychosocial outcomes in a large group of 46XY cloacal exstrophy patients raised as males.
However, the majority of children born with cloacal exstrophy and a 46XY genotype have been gender reassigned at birth. Solid data on the psychosocial result
of this group also are not available. Anecdotal observations reveal that a large majority of these 46XY patients raised as females exhibit male-typical behaviors. One author reported that some of these 46XY cloacal exstrophy patients, initially raised as females, spontaneously declared themselves to be male later in life.4 It is unfortunately clear that long-term data on the psychosocial outcomes in both groups of patients (46XY patients raised as males and the 46XY patients raised as females) are deficient in the literature.
Surgical technique. The newer surgical alternatives for repair of epispadias and exstrophy have allowed for cloacal exstrophy patients to be reared in accordance with their genetic sex. These procedures are the complete penile disassembly and the complete primary repair of exstrophy.56 In fact, the complete penile disassembly procedure evolved from attempts to reconstruct the phallus of older 46XY cloacal exstrophy patients who were raised as males. In the complete penile disassembly procedure, the penis is separated into its component parts, two corpora cavernosa and the urethral plate. The urethral plate is tubularized before being positioned in the proper anatomic position on the ventrum of the phallus. Since the bladder is the proximal extension of the urethra, it became clear that it was the repair of the epispadias that was the critical aspect of bladder closure in exstrophy patients. The complete primary repair of exstrophy includes the complete penile disassembly along with deep incision of the intersymphyseal band to position the bladder and urethra in their proper anatomic position.
Our current approach is to perform complete primary (single stage) reconstruction in patients born with cloacal exstrophy in the newborn period and maintain genetic sex if at all possible. This includes surgical reconstruction of the abdomen, bowel, bladder, and the phallus in the 46XY genotype patients. The exstrophied cecum (with hindgut) is always separated from between the bladder halves. The cecum is tubularized and placed into continuity with the rudimentary hindgut and brought out as a colostomy. An associated omphalocele is repaired, and the bladder halves are brought together posteriorly. If possible, complete closure of the abdominal wall, bladder, and phallus is also performed at birth. This includes complete penile disassembly and deep incisions of the intersymphyseal band (complete primary repair of exstrophy). In some children, largely depending on the size of the omphalocele, it is not possible or advisable to perform complete closure of both the abdominal wall and bladder because of elevated intrabdominal pressure. In cases where complete closure is not performed, the omphalocele is closed and the bladder halves sutured together in the midline, which would leave the child temporarily with the anatomy of a classic bladder exstrophy patient. Using this approach, the bladder would act as a silo, which may allow it to enlarge and permit the abdominal wall to stretch. Then, several weeks later, the second step of the primary closure is performed which consists of closing the bladder and phallus (complete penile disassembly) with the aid of osteotomies. These same principles of single stage reconstruction are applied to females (46 XX) born with cloacal exstrophy.
Results. We retrospectively reviewed the medical records
of patients with cloacal exstrophy or cloacal exstrophy variant treated by the senior author (MEM) during the last 20 years. Records were examined to determine the genotype, sex of rearing, and surgical management.
During the last 20 years, 50 patients with cloacal exstrophy have been treated by the senior author at two institutions (Indiana and Seattle). Twenty patients were born with a 46XX genotype, whereas 30 patients were 46XY. Of the 30 patients with a 46XY genotype, 16 were raised as males and 14 were raised as females. The majority of the patients raised as males come from the Seattle experience. During the past 10 years, only one patient born with a 46XY genotype has been assigned to a female gender. Despite having early orchiectomies, more than 50% of the 46XY patients raised as females exhibit male type behavioral characteristics on initial assessment. Since no detailed psychological interviews have been performed, however, information on these patients true gender identity and sexual orientation has yet to be evaluated. Our 46XY patients raised as males range in age from 1-24 years old with a mean of 9.7 years. Our two oldest patients died in their twenties as a result of sepsis (one) and renal failure (one). Likewise, detailed psychosocial characteristics have not been identified in this group. However, erections and orgasms are reported by many of the older patients. Some of the males also report heterosexual relationships and sexual activity. All of these patients have male-typical behavior.
Complete primary repair of exstrophy (single stage reconstruction) without division of the urethral plate or use of paraexstrophy flaps was performed in the last four boys born with a 46XY genotype and cloacal exstrophy. The urethral meatus could only be brought out to the penoscrotal junction or midshaft area at the time of initial closure and penile disassembly in these boys. Later, urethroplasties were performed to get the meatus to the glans. Currently, these four patients raised as males are ages 18 months, four years, five years, and eight years. To date, none of these four patients have required bladder augmentation and their upper tracts remain stable. In addition, no one has required CIC and all are voiding with dry intervals. Of note, none have overt neurologic deficits, though they do have lipomyelocystoceles which may be a source of neurogenic dysfunction when they get older. Nevertheless, their bladders are enlarging which will provide more native bladder tissue to work with should bladder reconstruction for continence be required.
Conclusions. Our preliminary data in the older patients and early clinical observations in the younger cloacal exstrophy patients suggest that it may be possible and preferable to reconstruct children with cloacal exstrophy according to their genetic sex. This would assume that a 46XY male would accept a less than perfect phallus. However, the broad and severe spectrum of cloacal exstrophy demands individual consideration on a case-by-case basis.
References
1. Zeigler MM, Duckett JW, Howell CG: "Cloaca! Exstrophy." In: Pediatric Surgery, Welch KJ et al, (Eds.). Chicago : Year Book Medical Publishers, 1986.
2.  Money J: Ablatio penis: normal male infant sex-reassigned as a girl. Arch Sex Behav, 4: 65, 1975.
3.Husmann DA, McLorieGA, Churchill BM: Phallic reconstruction in cloacal exstrophy. J Urol, 142:563, 1989.
4.  Reiner WG: Psychosocial concerns in classical and cloacal exstrophy patients. Dial Ped Urol, 22:3, 1999.
5.  Mitchell ME, Bagli DJ: Complete penile disassembly for epispadias repair: the Mitchell technique. J Urol, 155:300,1996.
6. Grady RW, Mitchell ME: Complete primary repair of exstrophy. J Urol, 162:1415, 1999.
WILLIAM G. REINER, MD
Division of Child and Adolescent Psychiatry; Division of Pediatric Urology, Johns Hopkins Medical Institutions, Baltimore, MD
Pertinent Psychosocial Markers in Children with Cloacal Exstrophy
Developmental issues of chronic illness. Children with major birth anomalies have a daunting developmental trajectory. Faced with virtually all of the typical developmental requisites and issues of growth and mastery, such children experience additional burdens depending upon the type of anomaly, medical and surgical implications, and the realities of parental adjustment and family impact. Psychosocial hurdles encountered by children with cloacal exstrophy circumscribe all of these experiences plus the additional developmental obstacles and ramifications of their major genital anomalies.
The early years. Developmental problems include the largely unstudied aspects of maternal-child bonding in the face of a child with major defects operated upon urgently at birth and hospitalized for varying stretches of early infancy and childhood. The impact on parents and on their concepts of parenthood, parental responsibility, intrafamily relations, and self-image must be presumed to be pervasive. Clinical experience supports this assumption. In fact, parental realities at birth include inaccurate information (correct gender identity, for example) and inadequate psychological support in the face of separation from home, friends, and family support networks.
Toddler and middle-aged children. Cloacal exstrophy introduces global psychosocial developmental risks. In addition to the myriad physical anomalies—each with potential developmental hurdles—these children face complex and unpredictable medical and surgical contingencies. Multiple hospitalizations can drastically reduce normal infancy and toddler experiences. Rather, family interactions tend to predominate. Peer relations and other social development tend to lag. Independence lags as well in these children, whose risks for long-term excessive dependency emerge from the vulnerabilities of the anomaly itself. Early social competence is often compromised.
School issues include requisite accommodation for physical handicaps. Academic competence may be influenced by social developmental deficiencies. Self-image and self-esteem may suffer with the child away from the protected environment of home. Temperament and environment will interact with unpredictability.
Identity and psychosexual development. These children see themselves as "cloacal exstrophy children," rather than as a child who happens to be afflicted with a specific defect. This existential reality is quite foreign to parents and health care providers alike. Yet, it is a central theme dominating these childrens' lives. The sense of having a disability, of being different, prevails. Additional identity
SUBJECT OF CONTROVERSY: CLOACAL EXSTROPHY
themes revolve around body image and its self-esteem ramifications.
Sexual self-esteem and gender identity are central themes of middle-age children and adolescents, quite apart from sex-of-rearing/genetic disparity (a discussion not included here). Genital anomalies, pelvic and extremity deformities, and untoward consequences of earlier development negatively impact the sense of a sexual self. As a corollary, sexual self-esteem deficits degrade the sense of gender identity and role. Sexual relationships tend to be absent and peer relations may suffer as well. Lack of neurological and internal sexual structures accompanies malformed external genital anatomy. Thus, sexual response is inhibited or precluded, including sexual stimulation, orgasm, and the potential for sexual reciprocity. The potential for internal, ie, brain, sexual response is unclear.
Interventions. Global developmental anomalies and vulnerabilities demand psychological interventions in all children with cloacal exstrophy. Beginning with diagnosis (or birth), family therapy is critical. Supportive interventions take the form of reassurance, assisting with overall acceptance, aiding the progression through stages of grief (over loss of a normal child and having produced a defective child), helping to maintain marital relationships, strengthening family ties, and assisting the parents in contacting support groups. Cognitive behavioral therapy (CBT) assists the parents in reframing their image of parenthood, child rearing, and other expectations. CBT can thus influence and alter poor coping styles and behaviors based upon unrealistic expectations, including hospital behaviors. Anger, grief, anxiety, and mood disorders are all potential psychiatric problems or disorders which may require intervention. Family interventions will likely be necessary intermittently throughout their child's development.
The children themselves benefit from CBT and other psychiatric interventions throughout their lives, based upon both common experiences and individual responses. Early interventions need to focus on developmental realities and demands, addressing both individual circumstances and cultural norms. Predictability should be maintained as much as possible in these children whose lives are fraught with unpredictable events. Social competence, realistic individuality, and independence should be emphasized and encouraged repetitively.
Psychiatric illness is common. Anxiety disorders are pervasive. Mood disorders appear to be more common than in the general (child) population. Disruptive disorders and learning disabilities may be more common as well. All of these conditions affect development. Thus, these children require periodic but frequent assessment. All psychiatric conditions should be vigorously treated.
Psychosexual dysfunction responds rather well to CBT. Psychosexual education and realistic expectations must be provided. Reframing a child's sense of self and of sexual self generally enhances social development and competence. Peer relations as well as sexual-object relations can respond to CBT individualized for the child's age, developmental stage, and Tanner stage. Parents should be included in this structured approach; they can
be valuable adjuncts in the enhancement of their child's developmental trajectory, but require similar education and appropriate framing of the developmental issues involved at any given time. Most important is the recognition that these children and their families require repetitive assessments and appropriate interventions regardless of their outward appearances.
Conclusion. Psychosocial deficits create profound developmental problems and requirements for intervention in children with birth defects. Although we have incomplete data regarding developmental and behavioral ramifications of cloacal exstrophy, improved medical/surgical interventions are enhancing life circumstances and life expectancy. Thus, psychological hurdles and psychiatric illness are more apparent and more important than ever before. The impact of such a condition on the entire family demands family interventions. Specific and general implications of cloacal exstrophy for the child require interventions as well. Psychosocial vulnerabilities include psychosexual deficits.
Preventive interventions are preferable. Thus, virtually all of these children (and their families) should receive frequent psychological assessments, psychosocial and psychosexual education, supportive therapy, and CBT. Approaches should be both general—for common experiences—and individualized to a particular child's needs. Support groups should be encouraged. Psychiatric illness should be vigorously treated. The psychological welfare of these patients can be greatly enhanced in the process.
WHAT'S AHEAD
Here are some of the topics and guest editors of upcoming issues of Dialogues in Pediatric Urology:
Classic and New Theories in the Development of the
Kidney and Urinary Tract
(Guest Editor: John C. Pope IV, MD)
Intersex
(Guest Editor: Martin Kaefer, MD)
Management of the Poorly Functioning Kidney (Guest Editor: Jeff L. Pugach, MD)
JOINT MEETING
The Section on Urology of the American Academy of Pediatrics and the European Society for Paediatric Urology will hold a joint meeting in Tours, France, from June 7th to June 10th this year. The clinical sessions will begin at 1:30 pm on June 7th and end at 6 pm on June 10th. All sessions will be held in the Tours Convention Center where there will be an exhibition hall and poster sessions as well. Dr. David Bloom of the University of Michigan will deliver the Academy Lecture on the topic, "Barometers and Bladders: A Primer on Pressure." Mr. Christopher Woodhouse of London will give the John Duckett Memorial Lecture on "Aspect of Fertility with Congenital Genitourinary Anomalies." For complete details on the meeting, please consult the ESPU web site at www.espu.org.
 
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