- Email: [email protected]
Cloacal Exstrophy: A History of Gender Reassignment
History Cloacal Exstrophy: A History of Gender Reassignment Jennifer Gordetsky and David B. Joseph
C
loacal exstrophy has been known historically as vesicointestinal fissure, ectopia vesicae, and perhaps most appropriately as extrophia splanchnica, which literally means “turned-out organs,” and is now commonly referred to as the OEIS complex (omphalocele-exstrophy-imperforate anus-spinal defects). Cloacal exstrophy, first described by Littre in 1709, is an extremely rare congenital malformation occurring in 1 in 200,000 to 400,000 live births.1-3 Cloacal exstrophy is caused by premature rupture of the cloacal membrane before descent of the urorectal septum at 6-8 weeks’ gestation, resulting in anomalies of the genitourinary tract, gastrointestinal tract, skeleton, and lower limbs. Patients frequently have spinal dysraphism. The abdominal wall defect consists of an omphalocele, exstrophy of the cecum interposed between exstrophied hemibladders, a prolapsed ilium, and a blind-ending rudimentary tailgut of varying length. Patients also have marked asymmetric deformity of the pelvis with a widely separated pubic symphysis and external rotation and abduction of the hips. The external genitalia are bifid and often widely separated. In females, the clitoral bodies can be reapproximated with a successful cosmetic outcome and the vagina can be reconstructed or augmented using colon, ileum, or full-thickness skin graft.3 Unfortunately, in 46XY males, the phallic structures may not be adequate for a functional penile reconstruction. This limitation has led to a difficult decision. One option is to attempt to reconstruct and salvage marginal male genital. Alternatively, the patient can undergo gender reassignment, which initially includes orchiectomy and ultimately clitoroplasty and vaginoplasty. We explore the history and controversy of gender reassignment in patients with cloacal exstrophy.
MATERIALS AND METHODS We reviewed the literature from 1910 to the present regarding the medical, surgical, and psychological management of cloacal exstrophy with a focus on gender reassignment. Financial Disclosure: The authors declare that they have no relevant financial interests. From the Department of Pathology, The University of Alabama, Birmingham, AL; and the Department of Urology, The University of Alabama, Birmingham, AL Address correspondence to: Jennifer Gordetsky, M.D., Departments of Pathology and Urology, The University of Alabama at Birmingham, NP 3550, 1802 6th Avenue South, Birmingham, AL 35249. E-mail: [email protected] Submitted: April 17, 2015, accepted (with revisions): June 9, 2015
ª 2015 Elsevier Inc. All Rights Reserved
RESULTS In the beginning of the 20th century, cloacal exstrophy was uniformly fatal. The medical difficulties created by this congenital malformation were considered by most to be insurmountable.4 In addition, many felt that even if the child could survive they would never be able to contribute to society in a meaningful way.2 Thus, patients born with cloacal exstrophy were not treated and left to die. The first successful treatment of a male child born with cloacal exstrophy was reported in 1957. With the progression of time and advancements in neonatal care, attention was turned from survival to quality of life, in particular, fecal and urinary continence. However, gender reassignment in males with cloacal exstrophy was still recommended by many physicians through the turn of the 21st century. It is relatively recent that attention has been paid to the importance of gender identity and the longterm psychological/psychosexual ramifications of gender reassignment. Experience and improved understanding of the anatomic defects have led to contemporary operative techniques for penile reconstruction. These advances, along with structured counseling, have enhanced the outcomes for male patients with cloacal exstrophy.
COMMENT Physicians have long recognized the social, psychological, and surgical difficulties that are encountered with cases of malformed genitalia. Willard5 in 1910 wrote, “malformations and defects of the sexual organs demand the most thoughtful attention of the surgeon, since any departure from the normal condition renders its possessor liable to ridicule, and morbid sensitiveness leading to melancholy or even insanity.” In the early 20th century, surgeons were undertaking the challenge of improving malformed external genitalia including repair of hypospadias, epispadias, webbed penis, and clitoroplasty.5 However, in males with a severe deformity, where it was felt that procreation would not be achievable, the recommendation was made to “unsex the patient at an early age for both physical and moral reasons.”5 In this regard, gender reassignment from male to female was thought to be in the best interest of the child from both a social and psychological standpoint. Before 1957, cloacal exstrophy was a fatal congenital malformation. The condition was considered by most to http://dx.doi.org/10.1016/j.urology.2015.06.056 0090-4295/15
1
be inoperable and the best decision was “to let the unfortunate child die.”4 In the 1950s, pediatric surgeons began to operate on children predicted to have a poor outcome. In 1953, Rickham,2 from Alder Hey Children’s Hospital in Liverpool, encountered his first case of cloacal exstrophy, which he referred to as vesicointestinal fissure. The child was too ill for any surgical intervention and died after 3 days. An autopsy allowed Rickham to form a better understanding of the anatomy of this malformation. Over the next 6 years, he surgically treated 3 patients with cloacal exstrophy. The first infant was grossly premature, weighing only 3.5 lb. Surgical management included excision of the extrophied intestine and the distal duplicated colon. The lower end of the ileum was pulled through to the perineum and the 2 ectopic hemibladders were then united in the midline. The small omphalocele was repaired and the abdomen closed. The infant tolerated the operation well, but the remaining length of the intestine was insufficient for adequate food absorption. The infant died at 2 months of age from malnutrition. The second infant was a premature boy weighing 4 lb. This time, Rickham changed his surgical management and carefully preserved the ectopic intestine with its blood supply and then closed the everted caecum and ascending colon. The distal colon, ending blindly in front of the sacral promontory, was freed and drawn down to the perineum and the 2 hemibladders were then closed in the midline as before. The omphalocele in this case was very large, requiring a piece of sterile nylon sheath to close the abdominal skin defect. The infant tolerated the operation well, and the nylon sheath was removed after 2 weeks and covered by split-thickness skin grafts. The infant thrived and gained weight satisfactorily but died at 3 months of age from bowel obstruction. The third patient, a male child born in 1957, underwent a successful operation and was reported well at 22 months of age. In this case, instead of opening the abdomen by incising the amnion covering the omphalocele, they entered the abdomen through an opening made by dissection of the intestinal field. They then proceeded to repair the cecum, pull the terminal colon down to the perineum, and close the abdomen by uniting the 2 ectopic hemibladders. Rickham published his experience in 1960 as the first successful treatment of cloacal exstrophy.2 Five years later, a review article published in Pediatric Surgery stated “the one hard and fast rule that can be made concerning the treatment of this abnormality is that these patients should be given an opportunity to survive.”6 This was a bold statement because of the 52 cases of cloacal exstrophy reported in the literature in 1964, there were only 2 that had survived to childhood.7 As mortality was the primary concern at this time, there was no attempt to repair the external genitalia. J.H. Johnston in 1973 addressed the genital aspects of exstrophy.8 He wrote, “In male patients with exstrophy or epispadias it is important to realize that the acquisition of a penis which will look alright during boyhood and which will function satisfactorily in adult life is generally the prime consideration of 2
the patient and his parents. They do not always tell us so and they do not always tell one another but I am sure that this is much more important to them than the site of emergence of urine.” Johnston admitted that in cases of cloacal exstrophy, effective surgical reconstruction of the external genitalia was difficult and he questioned the advisability of treating these infants at all, stating that they were treated with “more enthusiasm than common sense.” The next decade saw major advances in the surgical treatment and survivability of patients with cloacal exstrophy. In 1983, Howell et al9 reported on 15 patients treated at the Children’s Hospital of Philadelphia. By this time, survival had improved to 50% but cloacal exstrophy was still considered a major operative challenge. Of Howell’s 15 patients, 9 were genetic males, all reported to have a severe genital anomaly including small, separated corporal bodies, bifid scrotum, and undescended testes. Six of the boys underwent gender reassignment. Except for the less severe cases, they recommended that all genetic males be given a female gender assignment and undergo appropriate surgery early in life. In 1985, Diamond and Jeffs10 reported their 22-year experience at the Johns Hopkins Hospital with surgical management of cloacal exstrophy. They treated 12 cases of cloacal exstrophy, of which 8 were male. Of these, 6 were raised as girls with satisfactory gonadectomy and genitoplasty. The 2 raised as boys were described as having poor results in terms of external genitalia—one with a marginal phallus and the other a functionally inadequate phallus. Hurwitz et al11 reported on 34 cases from 1963 to 1986, including 16 male patients, 11 female patients, and 7 patients where gender was undetermined. Seven genetic male patients survived, 1 did not require genital surgery, 1 had repair of epispadias, 1 had repair of hypospadias, and 4 underwent gender reassignment. They concluded that advances in care had resulted in improved survival, and the next hurdle was improving quality of life, particularly related to creating functional genitalia. The 1990s saw a similar attitude among urologists supporting gender reassignment in cases where there was an inability to reconstruct functional male genitalia. In 1989, Husmann et al12 reported their long-term experience with phallic reconstruction in 8 males with cloacal exstrophy. Impotence and inadequate phallic size for penetration was a common occurrence. More importantly, their patients experienced significant psychological trauma from phallic inadequacy, requiring intensive counseling. Lund and Hendren13 reported a similar experience in 1993, reviewing 20 cases with cloacal exstrophy. Of the 13 genetic males, 12 underwent gender reassignment with early gonadectomy. The authors recommended that all genetic males should be raised as females because of the lack of adequate phallic tissue for reconstruction. The 1 patient raised as a male was said to be a “very angry, frustrated individual. Having only a rudimentary phallus, like nearly all of the males with cloacal exstrophy, he professes normal sexual drive, but is UROLOGY
-
(-), 2015
ill equipped for coitus.” The authors concluded that “gonadectomy and female gender assignment would have been better many years ago.” By the turn of the 21st century, the focus of care for patients with cloacal exstrophy had clearly shifted to quality of life. More attention began to be paid to the social, psychological, and psychosexual issues faced by patients with cloacal exstrophy.14 In 1999, Mathews et al15 reported normal testicular morphology in males with cloacal exstrophy despite other severe malformations. These findings helped to refocus interest on understanding the importance of gender identity and how that may be influenced prenatally by hormones and genetic factors more so than early gonadectomy and societal manipulation. Gender reassignment, which for decades was considered the standard of care, was becoming controversial. Some physicians reported that gender reassignment did not result in psychological, emotional, or behavior distress and continued to recommend reassignment primarily based on the ability to reconstruct an adequate phallus.16 Others argued that gender identity in 46XY neonates was heavily influenced by prenatal androgen exposure.17 Although there are multiple factors involved, prenatal androgenization (androgen imprinting) has been reported to predispose neonates to a male gender identity.18 In addition, several studies showed that gender reassignment in 46XY infants held an increased likelihood for patients to recognize a male sexual identity independent of sex-of-rearing.19,20 Another study found an increased risk of depression among gender-reassigned patients.21 The last decade has brought many advances and improvements in the reconstruction of male external genital. Because of these improvements, as well as the renewed focus on sexuality, brain imprinting by androgens, and quality of life, most pediatric urologists now favor maintaining male gender assignment for 46XY cloacal exstrophy patients.22
CONCLUSION Cloacal exstrophy remains an extremely complicated medical condition requiring a multidisciplinary approach. When diagnosed on intrautero ultrasound, parents need to be counseled on the severity of the condition and have realistic expectations for the future. Achieving a high quality of life should be the primary motivation of the physician when providing parents with informed consent regarding the direction of care. The decision regarding gender assignment remains controversial and requires input from the pediatric urologist, endocrinologist, and psychologist. The question remains whether it is better to raise a boy with an inadequate phallus or a 46XY girl who may subsequently have significant gender dysphoria. Regardless of the early decision made, as the child matures there will inevitably be questions by the child and
UROLOGY
-
(-), 2015
parents regarding sexuality and body image. It is important to have initially provided information and support intervention that does not “burn bridges” and that allows the patient to participate in the decision-making process particularly when it relates to gender identity and assignment. References 1. Littre A. “Observation Sur Un Foetus Humain Monstrux.” Memoires de l’Academie Royale des Sciences, Annee: 9, 1709. 2. Rickham PP. Vesico-intestinal fissure. Arch Dis Child. 1960;35: 97-102. 3. Campbell MF, Walsh PC, Wein AJ, et al. Campbell-Walsh Urology. 8th ed., Vol. 3. Philadelphia: Saunders Elsevier; 2007. 4. Veal JR, McFetridge EM. Exstrophy of the bladder associates with intestinal fistula. J Pediat. 1934;4:95. 5. Willard DF. The Surgery of Childhood, Including Orthopaedic Surgery. Philadelphia: Lippincott; 1910. 6. Spencer R. Exstrophia splanchnia (exstrophy of the cloaca). Surgery. 1965;57:751-766. 7. Soper RT, Kilger K. Vesico-intestinal fissure. J Urol. 1964;92: 490-501. 8. Johnston JH. The genital aspects of exstrophy. J Urol. 1975;113: 701-705. 9. Howell C, Caldamone A, Snyder H, et al. Optimal management of cloacal exstrophy. J Ped Surg. 1983;18:365-369. 10. Diamond DA, Jeffs RD. Cloacal exstrophy: a 22-year experience. J Urol. 1985;133:779-782. 11. Hurwitz RS, Manzoni GA, Ransley PG, et al. Cloacal exstrophy: a report of 34 cases. J Urol. 1987;138(4 Pt 2):1060-1064. 12. Husmann DA, McLorie GA, Churchill BM. Phallic reconstruction in cloacal exstrophy. J Urol. 1989 Aug;142(2 Pt 2):563-564; discussion: 572. 13. Lund DP, Hendren WH. Cloacal exstrophy: experience with 20 cases. J Pediatr Surg. 1993;28:1360-1368; discussion: 1368-1369. 14. Ebert A, Scheuering S, Schott G, et al. Psychosocial and psychosexual development in childhood and adolescence within the exstrophy-epispadias complex. J Urol. 2005;174:1094-1098. 15. Mathews RI, Perlman E, Marsh DW, et al. Gonadal morphology in cloacal exstrophy: implications in gender assignment. BJU Int. 1999;84:99-100. 16. Baker Towell DM, Towell AD. A preliminary investigation into quality of life, psychological distress and social competence in children with cloacal exstrophy. J Urol. 2003;169:1850-1853. 17. Reiner WG. Psychosexual development in genetic males assigned female: the cloacal exstrophy experience. Child Adolesc Psychiatr Clin N Am. 2004;13:657-674; ix. 18. Gooren L. The biology of human psychosexual differentiation. Horm Behav. 2006;50:589-601. 19. Reiner WG, Gearhart JP. Discordant sexual identity in some genetic males with cloacal exstrophy assigned to female sex at birth. N Engl J Med. 2004;350:333-341. 20. Meyer-Bahlburg HF. Gender identity outcome in female-raised 46, XY persons with penile agenesis, cloacal exstrophy of the bladder, or penile ablation. Arch Sex Behav. 2005;34:423-438. 21. Mukherjee B, McCauley E, Hanford RB, et al. Psychopathology, psychosocial, gender and cognitive outcomes in patients with cloacal exstrophy. J Urol. 2007;178:630-635; discussion: 634635. 22. Diamond DA, Burns JP, Huang L, et al. Gender assignment for newborns with 46XY cloacal exstrophy: a 6-year followup survey of pediatric urologists. J Urol. 2011;186(4 Suppl):16421648.
3
C
loacal exstrophy has been known historically as vesicointestinal fissure, ectopia vesicae, and perhaps most appropriately as extrophia splanchnica, which literally means “turned-out organs,” and is now commonly referred to as the OEIS complex (omphalocele-exstrophy-imperforate anus-spinal defects). Cloacal exstrophy, first described by Littre in 1709, is an extremely rare congenital malformation occurring in 1 in 200,000 to 400,000 live births.1-3 Cloacal exstrophy is caused by premature rupture of the cloacal membrane before descent of the urorectal septum at 6-8 weeks’ gestation, resulting in anomalies of the genitourinary tract, gastrointestinal tract, skeleton, and lower limbs. Patients frequently have spinal dysraphism. The abdominal wall defect consists of an omphalocele, exstrophy of the cecum interposed between exstrophied hemibladders, a prolapsed ilium, and a blind-ending rudimentary tailgut of varying length. Patients also have marked asymmetric deformity of the pelvis with a widely separated pubic symphysis and external rotation and abduction of the hips. The external genitalia are bifid and often widely separated. In females, the clitoral bodies can be reapproximated with a successful cosmetic outcome and the vagina can be reconstructed or augmented using colon, ileum, or full-thickness skin graft.3 Unfortunately, in 46XY males, the phallic structures may not be adequate for a functional penile reconstruction. This limitation has led to a difficult decision. One option is to attempt to reconstruct and salvage marginal male genital. Alternatively, the patient can undergo gender reassignment, which initially includes orchiectomy and ultimately clitoroplasty and vaginoplasty. We explore the history and controversy of gender reassignment in patients with cloacal exstrophy.
MATERIALS AND METHODS We reviewed the literature from 1910 to the present regarding the medical, surgical, and psychological management of cloacal exstrophy with a focus on gender reassignment. Financial Disclosure: The authors declare that they have no relevant financial interests. From the Department of Pathology, The University of Alabama, Birmingham, AL; and the Department of Urology, The University of Alabama, Birmingham, AL Address correspondence to: Jennifer Gordetsky, M.D., Departments of Pathology and Urology, The University of Alabama at Birmingham, NP 3550, 1802 6th Avenue South, Birmingham, AL 35249. E-mail: [email protected] Submitted: April 17, 2015, accepted (with revisions): June 9, 2015
ª 2015 Elsevier Inc. All Rights Reserved
RESULTS In the beginning of the 20th century, cloacal exstrophy was uniformly fatal. The medical difficulties created by this congenital malformation were considered by most to be insurmountable.4 In addition, many felt that even if the child could survive they would never be able to contribute to society in a meaningful way.2 Thus, patients born with cloacal exstrophy were not treated and left to die. The first successful treatment of a male child born with cloacal exstrophy was reported in 1957. With the progression of time and advancements in neonatal care, attention was turned from survival to quality of life, in particular, fecal and urinary continence. However, gender reassignment in males with cloacal exstrophy was still recommended by many physicians through the turn of the 21st century. It is relatively recent that attention has been paid to the importance of gender identity and the longterm psychological/psychosexual ramifications of gender reassignment. Experience and improved understanding of the anatomic defects have led to contemporary operative techniques for penile reconstruction. These advances, along with structured counseling, have enhanced the outcomes for male patients with cloacal exstrophy.
COMMENT Physicians have long recognized the social, psychological, and surgical difficulties that are encountered with cases of malformed genitalia. Willard5 in 1910 wrote, “malformations and defects of the sexual organs demand the most thoughtful attention of the surgeon, since any departure from the normal condition renders its possessor liable to ridicule, and morbid sensitiveness leading to melancholy or even insanity.” In the early 20th century, surgeons were undertaking the challenge of improving malformed external genitalia including repair of hypospadias, epispadias, webbed penis, and clitoroplasty.5 However, in males with a severe deformity, where it was felt that procreation would not be achievable, the recommendation was made to “unsex the patient at an early age for both physical and moral reasons.”5 In this regard, gender reassignment from male to female was thought to be in the best interest of the child from both a social and psychological standpoint. Before 1957, cloacal exstrophy was a fatal congenital malformation. The condition was considered by most to http://dx.doi.org/10.1016/j.urology.2015.06.056 0090-4295/15
1
be inoperable and the best decision was “to let the unfortunate child die.”4 In the 1950s, pediatric surgeons began to operate on children predicted to have a poor outcome. In 1953, Rickham,2 from Alder Hey Children’s Hospital in Liverpool, encountered his first case of cloacal exstrophy, which he referred to as vesicointestinal fissure. The child was too ill for any surgical intervention and died after 3 days. An autopsy allowed Rickham to form a better understanding of the anatomy of this malformation. Over the next 6 years, he surgically treated 3 patients with cloacal exstrophy. The first infant was grossly premature, weighing only 3.5 lb. Surgical management included excision of the extrophied intestine and the distal duplicated colon. The lower end of the ileum was pulled through to the perineum and the 2 ectopic hemibladders were then united in the midline. The small omphalocele was repaired and the abdomen closed. The infant tolerated the operation well, but the remaining length of the intestine was insufficient for adequate food absorption. The infant died at 2 months of age from malnutrition. The second infant was a premature boy weighing 4 lb. This time, Rickham changed his surgical management and carefully preserved the ectopic intestine with its blood supply and then closed the everted caecum and ascending colon. The distal colon, ending blindly in front of the sacral promontory, was freed and drawn down to the perineum and the 2 hemibladders were then closed in the midline as before. The omphalocele in this case was very large, requiring a piece of sterile nylon sheath to close the abdominal skin defect. The infant tolerated the operation well, and the nylon sheath was removed after 2 weeks and covered by split-thickness skin grafts. The infant thrived and gained weight satisfactorily but died at 3 months of age from bowel obstruction. The third patient, a male child born in 1957, underwent a successful operation and was reported well at 22 months of age. In this case, instead of opening the abdomen by incising the amnion covering the omphalocele, they entered the abdomen through an opening made by dissection of the intestinal field. They then proceeded to repair the cecum, pull the terminal colon down to the perineum, and close the abdomen by uniting the 2 ectopic hemibladders. Rickham published his experience in 1960 as the first successful treatment of cloacal exstrophy.2 Five years later, a review article published in Pediatric Surgery stated “the one hard and fast rule that can be made concerning the treatment of this abnormality is that these patients should be given an opportunity to survive.”6 This was a bold statement because of the 52 cases of cloacal exstrophy reported in the literature in 1964, there were only 2 that had survived to childhood.7 As mortality was the primary concern at this time, there was no attempt to repair the external genitalia. J.H. Johnston in 1973 addressed the genital aspects of exstrophy.8 He wrote, “In male patients with exstrophy or epispadias it is important to realize that the acquisition of a penis which will look alright during boyhood and which will function satisfactorily in adult life is generally the prime consideration of 2
the patient and his parents. They do not always tell us so and they do not always tell one another but I am sure that this is much more important to them than the site of emergence of urine.” Johnston admitted that in cases of cloacal exstrophy, effective surgical reconstruction of the external genitalia was difficult and he questioned the advisability of treating these infants at all, stating that they were treated with “more enthusiasm than common sense.” The next decade saw major advances in the surgical treatment and survivability of patients with cloacal exstrophy. In 1983, Howell et al9 reported on 15 patients treated at the Children’s Hospital of Philadelphia. By this time, survival had improved to 50% but cloacal exstrophy was still considered a major operative challenge. Of Howell’s 15 patients, 9 were genetic males, all reported to have a severe genital anomaly including small, separated corporal bodies, bifid scrotum, and undescended testes. Six of the boys underwent gender reassignment. Except for the less severe cases, they recommended that all genetic males be given a female gender assignment and undergo appropriate surgery early in life. In 1985, Diamond and Jeffs10 reported their 22-year experience at the Johns Hopkins Hospital with surgical management of cloacal exstrophy. They treated 12 cases of cloacal exstrophy, of which 8 were male. Of these, 6 were raised as girls with satisfactory gonadectomy and genitoplasty. The 2 raised as boys were described as having poor results in terms of external genitalia—one with a marginal phallus and the other a functionally inadequate phallus. Hurwitz et al11 reported on 34 cases from 1963 to 1986, including 16 male patients, 11 female patients, and 7 patients where gender was undetermined. Seven genetic male patients survived, 1 did not require genital surgery, 1 had repair of epispadias, 1 had repair of hypospadias, and 4 underwent gender reassignment. They concluded that advances in care had resulted in improved survival, and the next hurdle was improving quality of life, particularly related to creating functional genitalia. The 1990s saw a similar attitude among urologists supporting gender reassignment in cases where there was an inability to reconstruct functional male genitalia. In 1989, Husmann et al12 reported their long-term experience with phallic reconstruction in 8 males with cloacal exstrophy. Impotence and inadequate phallic size for penetration was a common occurrence. More importantly, their patients experienced significant psychological trauma from phallic inadequacy, requiring intensive counseling. Lund and Hendren13 reported a similar experience in 1993, reviewing 20 cases with cloacal exstrophy. Of the 13 genetic males, 12 underwent gender reassignment with early gonadectomy. The authors recommended that all genetic males should be raised as females because of the lack of adequate phallic tissue for reconstruction. The 1 patient raised as a male was said to be a “very angry, frustrated individual. Having only a rudimentary phallus, like nearly all of the males with cloacal exstrophy, he professes normal sexual drive, but is UROLOGY
-
(-), 2015
ill equipped for coitus.” The authors concluded that “gonadectomy and female gender assignment would have been better many years ago.” By the turn of the 21st century, the focus of care for patients with cloacal exstrophy had clearly shifted to quality of life. More attention began to be paid to the social, psychological, and psychosexual issues faced by patients with cloacal exstrophy.14 In 1999, Mathews et al15 reported normal testicular morphology in males with cloacal exstrophy despite other severe malformations. These findings helped to refocus interest on understanding the importance of gender identity and how that may be influenced prenatally by hormones and genetic factors more so than early gonadectomy and societal manipulation. Gender reassignment, which for decades was considered the standard of care, was becoming controversial. Some physicians reported that gender reassignment did not result in psychological, emotional, or behavior distress and continued to recommend reassignment primarily based on the ability to reconstruct an adequate phallus.16 Others argued that gender identity in 46XY neonates was heavily influenced by prenatal androgen exposure.17 Although there are multiple factors involved, prenatal androgenization (androgen imprinting) has been reported to predispose neonates to a male gender identity.18 In addition, several studies showed that gender reassignment in 46XY infants held an increased likelihood for patients to recognize a male sexual identity independent of sex-of-rearing.19,20 Another study found an increased risk of depression among gender-reassigned patients.21 The last decade has brought many advances and improvements in the reconstruction of male external genital. Because of these improvements, as well as the renewed focus on sexuality, brain imprinting by androgens, and quality of life, most pediatric urologists now favor maintaining male gender assignment for 46XY cloacal exstrophy patients.22
CONCLUSION Cloacal exstrophy remains an extremely complicated medical condition requiring a multidisciplinary approach. When diagnosed on intrautero ultrasound, parents need to be counseled on the severity of the condition and have realistic expectations for the future. Achieving a high quality of life should be the primary motivation of the physician when providing parents with informed consent regarding the direction of care. The decision regarding gender assignment remains controversial and requires input from the pediatric urologist, endocrinologist, and psychologist. The question remains whether it is better to raise a boy with an inadequate phallus or a 46XY girl who may subsequently have significant gender dysphoria. Regardless of the early decision made, as the child matures there will inevitably be questions by the child and
UROLOGY
-
(-), 2015
parents regarding sexuality and body image. It is important to have initially provided information and support intervention that does not “burn bridges” and that allows the patient to participate in the decision-making process particularly when it relates to gender identity and assignment. References 1. Littre A. “Observation Sur Un Foetus Humain Monstrux.” Memoires de l’Academie Royale des Sciences, Annee: 9, 1709. 2. Rickham PP. Vesico-intestinal fissure. Arch Dis Child. 1960;35: 97-102. 3. Campbell MF, Walsh PC, Wein AJ, et al. Campbell-Walsh Urology. 8th ed., Vol. 3. Philadelphia: Saunders Elsevier; 2007. 4. Veal JR, McFetridge EM. Exstrophy of the bladder associates with intestinal fistula. J Pediat. 1934;4:95. 5. Willard DF. The Surgery of Childhood, Including Orthopaedic Surgery. Philadelphia: Lippincott; 1910. 6. Spencer R. Exstrophia splanchnia (exstrophy of the cloaca). Surgery. 1965;57:751-766. 7. Soper RT, Kilger K. Vesico-intestinal fissure. J Urol. 1964;92: 490-501. 8. Johnston JH. The genital aspects of exstrophy. J Urol. 1975;113: 701-705. 9. Howell C, Caldamone A, Snyder H, et al. Optimal management of cloacal exstrophy. J Ped Surg. 1983;18:365-369. 10. Diamond DA, Jeffs RD. Cloacal exstrophy: a 22-year experience. J Urol. 1985;133:779-782. 11. Hurwitz RS, Manzoni GA, Ransley PG, et al. Cloacal exstrophy: a report of 34 cases. J Urol. 1987;138(4 Pt 2):1060-1064. 12. Husmann DA, McLorie GA, Churchill BM. Phallic reconstruction in cloacal exstrophy. J Urol. 1989 Aug;142(2 Pt 2):563-564; discussion: 572. 13. Lund DP, Hendren WH. Cloacal exstrophy: experience with 20 cases. J Pediatr Surg. 1993;28:1360-1368; discussion: 1368-1369. 14. Ebert A, Scheuering S, Schott G, et al. Psychosocial and psychosexual development in childhood and adolescence within the exstrophy-epispadias complex. J Urol. 2005;174:1094-1098. 15. Mathews RI, Perlman E, Marsh DW, et al. Gonadal morphology in cloacal exstrophy: implications in gender assignment. BJU Int. 1999;84:99-100. 16. Baker Towell DM, Towell AD. A preliminary investigation into quality of life, psychological distress and social competence in children with cloacal exstrophy. J Urol. 2003;169:1850-1853. 17. Reiner WG. Psychosexual development in genetic males assigned female: the cloacal exstrophy experience. Child Adolesc Psychiatr Clin N Am. 2004;13:657-674; ix. 18. Gooren L. The biology of human psychosexual differentiation. Horm Behav. 2006;50:589-601. 19. Reiner WG, Gearhart JP. Discordant sexual identity in some genetic males with cloacal exstrophy assigned to female sex at birth. N Engl J Med. 2004;350:333-341. 20. Meyer-Bahlburg HF. Gender identity outcome in female-raised 46, XY persons with penile agenesis, cloacal exstrophy of the bladder, or penile ablation. Arch Sex Behav. 2005;34:423-438. 21. Mukherjee B, McCauley E, Hanford RB, et al. Psychopathology, psychosocial, gender and cognitive outcomes in patients with cloacal exstrophy. J Urol. 2007;178:630-635; discussion: 634635. 22. Diamond DA, Burns JP, Huang L, et al. Gender assignment for newborns with 46XY cloacal exstrophy: a 6-year followup survey of pediatric urologists. J Urol. 2011;186(4 Suppl):16421648.
3