- Email: [email protected]
46, XY female with cloacal exstrophy and masculinization at puberty
Journal of Pediatric Urology (2009) 5, 408e411
CASE REPORT
46, XY female with cloacal exstrophy and masculinization at puberty H. Mirheydar a,*, K. Evason b,1, F. Coakley c,2, L.S. Baskin d,3, M. DiSandro d,4 a
Department of Urologic Surgery, University of Minnesota, 420 Delaware Street S.E., Mayo Mail Code 394, Minneapolis, MN 55455, USA b University of California San Francisco, Department of Pathology and Laboratory Medicine, 185 Berry Street, Lobby 5, Street 100, Box 0506, San Francisco, CA 94143-0506, USA c University of California San Francisco, Department of Radiology and Biomedical Imaging, Box 0628, 505 Parnassus Avenue, San Francisco, CA 94143-0628, USA d University of California San Francisco, Department of Urology, Box 0738, San Francisco, CA 94143-0738, USA Received 20 October 2008; accepted 20 March 2009 Available online 9 July 2009
KEYWORDS Cloacal exstrophy; Pediatric urology; Cryptorchidism; Ectopic testis; Case report
Abstract Cloacal exstrophy of the bladder is a rare complex disorder occurring 1 in 400,000 live births and associated with cryptorchidism, vesicoureteral reflux, severe phallic inadequacy, omphalocele with short-gut syndrome, exstrophied bladder separated by exstrophied ileocecal segment, and pubic symphyseal diastasis. The association of undescended and ectopic testis with cloacal exstrophy is not uncommon, but the presence of an unexpected persistent ectopic testis at the time of puberty is quite unusual. We report the case of a 17-year-old girl with a history of 46, XY cloacal exstrophy and gender reassignment presenting with an ectopic testis of unclear location. We then review controversial literature surrounding gender assignment in these patients. Published by Elsevier Ltd on behalf of Journal of Pediatric Urology Company.
* Corresponding author. Tel.: þ1 763 443 6139. E-mail addresses: [email protected] (H. Mirheydar), kimberly. [email protected] (K. Evason), fergus.coakley@radiology. ucsf.edu (F. Coakley), [email protected] (L.S. Baskin), [email protected] (M. DiSandro). 1 Tel.: þ1 314 210 0858. 2 Tel.: þ1 415 353 1821. 3 Tel.: þ1 415 476 1611. 4 Tel.: þ1 415 353 2200.
A 17-year-old girl born in Mexico with a diagnosis of 46, XY cloacal exstrophy who had gender reassignment at birth presented from an outside hospital with facial hair, deepening of voice, Tanner V pubic hair, and testosterone of 359 ng/mL. As an infant in Mexico, gender reassignment was performed and the patient’s family was advised to raise their child as a female. The family was reassured that bilateral orchiectomies were performed during the gender reassignment surgery. The child was never told her genotypic sex until her unexpected masculinization 1 year ago. Her parents, with the help of psychiatric counseling, then
1477-5131/$36 Published by Elsevier Ltd on behalf of Journal of Pediatric Urology Company. doi:10.1016/j.jpurol.2009.03.013
Cloacal exstrophy and masculinization at puberty informed her that she was genotypically male, and may have persistent testicular tissue causing her masculinization. Psychiatric evaluation revealed that she identified as female, despite this recent masculinization, but was having a difficult time fully embracing her feminization. An extensive workup then ensued to try to determine the source of her elevated testosterone. Unfortunately, several imaging studies performed at outside hospitals, including CT angiogram of abdomen, MR angiogram of abdomen and spermatic venogram, all failed to locate the ectopic testis. The patient has a complex past surgical history significant for multiple exploratory laparotomies, a diverting colostomy, a right lower quadrant Mitrofanoff, ileal bladder augmentation, bladder neck closure, sigmoid vaginoplasty, and penectomy. On physical examination, her abdomen had multiple healed scars, a left-sided colostomy, and a rightsided Mitrofanoff with a 6-Fr catheter in place. Her genital exam demonstrated Tanner V pubic hair, and her vaginoplasty was open. She had normal appearing female genitalia. The patient was started on depo-lupron injections, and follow-up ultrasensitive testosterone, luteinizing hormone, follicle-stimulating hormone, and anti-Mu ¨llerian hormone levels were respectively 3 ng/dL, 0.32 mIU/mL, 0.14 mIU/mL, and 13 ng/mL. An MR angiogram of abdomen and pelvis was then repeated at this institution, which demonstrated linear, streak-like possible testicular tissue in the left groin that resulted in a left groin exploration. She had multiple bladder stones, so an open cystolithotomy was performed simultaneously. In the operating room, no testicle was identified in either groin. Following the left inguinal exploration, she had periodically stopped her depo-lupron, and follow-up ultrasensitive testosterone, ultrasensitive luteinizing hormone, follicle-stimulating hormone, and anti-Mu ¨llerian hormone levels were respectively 145 ng/dL, 3.5 mIU/mL, 1.33 mIU/ mL, and 3.4 ng/dL. With a rising ultrasensitive testosterone off lupron, there was no doubt that an ectopic functioning testicle was still present. Before any more invasive studies were considered, all the previous localization studies, including the studies done at outside institutions, were reviewed internally. One MR angiogram from an outside institution demonstrated an ovoid structure of high T2 signal intensity in the right ischiorectal fossa (Fig. 1) that was suspicious for an ectopic testicle. We took the patient to the operating room for right pelvic exploration. Upon careful dissection, we were able to enter the deep pelvic region through the pubic symphysis area. Examination revealed a testicular like structure without a gubernaculum, but with a vas deferens and spermatic vessels. This was removed in its entirety, and sent for histologic evaluation (Fig. 2). Histological examination showed immature and unremarkable seminiferous tubules without atypia, similar to that reported in other 46, XY cloacal exstrophy patients [1]. Immunohistochemical stains for Oct-4, CD117, and placental alkaline phosphatase were negative, indicating no evidence of intratubular germ cell neoplasia. The patient’s lupron was discontinued, and at 2 months’ follow-up after the right orchiectomy, the patient’s testosterone was zero and she still declared herself a female.
409
Figure 1 Axial fat-saturated T2-weighted image through the pelvis at the level of the femoral heads shows an ovoid structure (vertical arrow) of high T2 signal intensity in the ischiorectal fossa, consistent with an ectopic testis (subsequently confirmed at surgery). A linear high T2 signal intensity structure (horizontal arrow) extends anteriorly from the ectopic testis, presumably the spermatic cord.
Discussion Management of patients with 46, XY cloacal exstrophy is becoming more controversial as long-term studies suggest that prenatal testosterone exposure imprints the brain of these children prior to puberty, and contributes to male sexual identity [2]. We believe this case contributes to the discussion currently developing over management of 46, XY cloacal exstrophy patients. In newborns with cloacal exstrophy, the genital treatment options include orchidopexy with phallic reconstruction, orchiectomy with phallic reduction and vaginoplasty, or delaying gender assignment until puberty. Determining whether orchidopexy or orchiectomy is more appropriate
Figure 2 Testicular tissue from right pelvis, showing immature seminiferous tubules with no evidence of malignancy (hematoxylin and eosin).
410 for patients with 46, XY cloacal exstrophy presents a unique challenge for the pediatric urologist. Using a team approach (urologist, endocrinologist, psychiatrist) that pays special attention to the long-term effects of gender reassignment is advocated by many pediatric urologists today [3,4]. While some recommend delaying gender assignment of patients with ambiguous genitalia until puberty [5], this case illustrates that waiting may not solve all the psychiatric issues. Interestingly, this patient was in a unique situation whereby she was presumed to have had bilateral orchiectomies as an infant, and then was raised as a girl, only to discover later after developing male secondary sexual characteristics at puberty that she was in fact genotypically a male. Despite these unusual circumstances, she continues to identify as female, and appears to be much happier after removal of her ectopic testicular tissue. This case illustrates that gender association can be independent of testosterone imprinting, and can even overcome the testosterone surge that occurs at puberty in males. This patient was uncomfortable with her testosterone surge, and elected to have the source of testosterone removed so she could continue to be a girl. This case also illustrates the fact that even though a patient is presumed to have had bilateral orchiectomies by history, the clinician should be aware that testicular tissue may still be present, and act accordingly. Without complete medical records of the orchiectomy or if there is any doubt about whether or not both testes were completely removed, an HcG stimulation test and/or diagnostic laparoscopy might be helpful to determine whether any testosteroneproducing tissue is present. Some of the adverse psychological events associated with this patient’s testosterone surge in adolescence may have been avoided if an HcG stimulation test had been performed before she reached puberty. However, diagnostic laparoscopy would not have helped locate the testis in this case, as this patient has had multiple abdominal surgeries and laparoscopy would not have been informative. Unfortunately, other modalities for locating an ectopic testis are not very reliable. MRI, CT and ultrasound can all be utilized, but the sensitivity and specificity of each are not very high. Hrebinko and Bellinger [6] studied the usefulness of radiography for localization of cryptorchid testes and reviewed 23 radiographic studies in 18 boys. Operative exploration was performed in 16 of these 18 boys, and there were a total of 19 undescended testes. Ultrasonography (US) correlated with the operative findings in 7 of 12 cryptorchid testes (58%), while CT and MRI correlated in 4 of 12 (33%) and 0 of 1 (0%), respectively. The overall accuracy of radiological testing was 44%. Kanemoto et al. [7] also evaluated the accuracy of US and MRI for diagnosing non-palpable testis in 56 patients with this condition, and studied the clinical usefulness of US and MRI before surgical exploration. They report that US had a sensitivity of 76%, a specificity of 100%, and an accuracy of 84% for diagnosing a non-palpable testis, whereas MRI had a sensitivity of 86%, specificity of 79%, and accuracy of 85%. There were no statistically significant differences in the accuracy rates of US and MRI for diagnosing non-palpable testis. While the literature demonstrates that preoperative radiography for undescended testis is unnecessary, we were fortunate to locate the testis on MRI after carefully and thoroughly reviewing all the imaging studies. Had we been unable to
H. Mirheydar et al. locate the testis preoperatively, the patient would have required an extensive abdominal exploration possibly involving a takedown of her augmentation cystoplasty in order to locate the testis. The need for better testis localization studies is important not only for patients such as this, but also for more straightforward cases of cryptorchidism. One final point about this case is the fact that the testis remained in the abdomen for 17 years. Had the patient requested male gender assignment, a decision would have had to be made as to whether to leave the gonad in the abdomen, or perform an orchiectomy followed by exogenous testosterone replacement. Leaving the gonads in the abdomen is a possibility, and the testicular histology findings reported from this cloacal exstrophy patient are no different to those presented by Matthews et al. [1]. These authors reviewed the gonads from 15 genotypic males with cloacal exstrophy who had undergone gender conversion in infancy, with gonadectomy performed at a mean age of 6 months. After histological analysis was performed on the testes of these cloacal exstrophy patients, no differences in the architecture of the rete testis, epididymis, and vasa from normal infantile testes were observed. Furthermore, the seminiferous tubular histology was normal, and there was no evidence of intertubular neoplasia, which was consistent with the histology findings of our patient’s ectopic testis. This testicular histology finding differs from those of isolated cryptorchidism patients reported by Pettersson et al. [8] in that the lack of testicular descent is not associated with abnormalities in testicular histology, or an increased risk of testicular neoplasia, and may suggest that the mechanism for ectopic testis in cloacal exstrophy patients differs from that in isolated cryptorchidism. Indeed, Matthews et al. suggest that the intra-abdominal pressure associated with the abdominal wall defect in cloacal exstrophy patients, not histological abnormalities, may be a causative factor contributing to the testicular descent in this group of boys. In this case a patient was raised female, but unintentionally exposed to testosterone at puberty. At 17 years of age, nearing the end of puberty, the patient elected orchiectomy as she identified as female, and is currently doing well embracing feminization, although she does require continued psychiatric support. We believe this case illustrates the complexity of gender assignment in 46, XY patients with cloacal exstrophy as well as the difficulties of locating an ectopic testis utilizing even the latest radiographic modalities.
Conflict of interest None.
Funding None.
References [1] Matthews RI, Perlman E, Marsh DW, Gearhart JP. Gonadal morphology in cloacal exstrophy: implications in gender assignment. BJU Int 1999;84:99e100.
Cloacal exstrophy and masculinization at puberty [2] 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;350:333e41. [3] Diamond DA, Burns JP, Mitchell C, Lamb K, Kartashsov AI, Retik AB. Sex assignment for newborns with ambiguous genitalia and exposure to fetal testosterone: attitudes and practices of pediatric urologists. J Pediatr 2006;148: 445e9. [4] Clinical guidelines for the management of disorders of sex development in childhood. Copyright Intersex Society of North America; 2006.
411 [5] Wilson BE, Reiner WG. Management of intersex: a shifting paradigm. J Clin Ethics Winter 1998;9(4):360e9. [6] Hrebinko RL, Bellinger MF. The limited role of imaging techniques in managing children with undescended testes. J Urol 1993;150:458e60. [7] Kanemoto K, Hayashi Y, Kojima Y, Maruyama T, Ito M, Kohri K. Accuracy of ultrasonography and magnetic resonance imaging in the diagnosis of non-palpable testis. Int J Urol 2005;12:668e72. [8] Pettersson A, Richiardi L, Nordenskjold A, Kaijser M, Akre O. Age at surgery for undescended testis and risk of testicular cancer. N Engl J Med 2007;356:1835e41.
CASE REPORT
46, XY female with cloacal exstrophy and masculinization at puberty H. Mirheydar a,*, K. Evason b,1, F. Coakley c,2, L.S. Baskin d,3, M. DiSandro d,4 a
Department of Urologic Surgery, University of Minnesota, 420 Delaware Street S.E., Mayo Mail Code 394, Minneapolis, MN 55455, USA b University of California San Francisco, Department of Pathology and Laboratory Medicine, 185 Berry Street, Lobby 5, Street 100, Box 0506, San Francisco, CA 94143-0506, USA c University of California San Francisco, Department of Radiology and Biomedical Imaging, Box 0628, 505 Parnassus Avenue, San Francisco, CA 94143-0628, USA d University of California San Francisco, Department of Urology, Box 0738, San Francisco, CA 94143-0738, USA Received 20 October 2008; accepted 20 March 2009 Available online 9 July 2009
KEYWORDS Cloacal exstrophy; Pediatric urology; Cryptorchidism; Ectopic testis; Case report
Abstract Cloacal exstrophy of the bladder is a rare complex disorder occurring 1 in 400,000 live births and associated with cryptorchidism, vesicoureteral reflux, severe phallic inadequacy, omphalocele with short-gut syndrome, exstrophied bladder separated by exstrophied ileocecal segment, and pubic symphyseal diastasis. The association of undescended and ectopic testis with cloacal exstrophy is not uncommon, but the presence of an unexpected persistent ectopic testis at the time of puberty is quite unusual. We report the case of a 17-year-old girl with a history of 46, XY cloacal exstrophy and gender reassignment presenting with an ectopic testis of unclear location. We then review controversial literature surrounding gender assignment in these patients. Published by Elsevier Ltd on behalf of Journal of Pediatric Urology Company.
* Corresponding author. Tel.: þ1 763 443 6139. E-mail addresses: [email protected] (H. Mirheydar), kimberly. [email protected] (K. Evason), fergus.coakley@radiology. ucsf.edu (F. Coakley), [email protected] (L.S. Baskin), [email protected] (M. DiSandro). 1 Tel.: þ1 314 210 0858. 2 Tel.: þ1 415 353 1821. 3 Tel.: þ1 415 476 1611. 4 Tel.: þ1 415 353 2200.
A 17-year-old girl born in Mexico with a diagnosis of 46, XY cloacal exstrophy who had gender reassignment at birth presented from an outside hospital with facial hair, deepening of voice, Tanner V pubic hair, and testosterone of 359 ng/mL. As an infant in Mexico, gender reassignment was performed and the patient’s family was advised to raise their child as a female. The family was reassured that bilateral orchiectomies were performed during the gender reassignment surgery. The child was never told her genotypic sex until her unexpected masculinization 1 year ago. Her parents, with the help of psychiatric counseling, then
1477-5131/$36 Published by Elsevier Ltd on behalf of Journal of Pediatric Urology Company. doi:10.1016/j.jpurol.2009.03.013
Cloacal exstrophy and masculinization at puberty informed her that she was genotypically male, and may have persistent testicular tissue causing her masculinization. Psychiatric evaluation revealed that she identified as female, despite this recent masculinization, but was having a difficult time fully embracing her feminization. An extensive workup then ensued to try to determine the source of her elevated testosterone. Unfortunately, several imaging studies performed at outside hospitals, including CT angiogram of abdomen, MR angiogram of abdomen and spermatic venogram, all failed to locate the ectopic testis. The patient has a complex past surgical history significant for multiple exploratory laparotomies, a diverting colostomy, a right lower quadrant Mitrofanoff, ileal bladder augmentation, bladder neck closure, sigmoid vaginoplasty, and penectomy. On physical examination, her abdomen had multiple healed scars, a left-sided colostomy, and a rightsided Mitrofanoff with a 6-Fr catheter in place. Her genital exam demonstrated Tanner V pubic hair, and her vaginoplasty was open. She had normal appearing female genitalia. The patient was started on depo-lupron injections, and follow-up ultrasensitive testosterone, luteinizing hormone, follicle-stimulating hormone, and anti-Mu ¨llerian hormone levels were respectively 3 ng/dL, 0.32 mIU/mL, 0.14 mIU/mL, and 13 ng/mL. An MR angiogram of abdomen and pelvis was then repeated at this institution, which demonstrated linear, streak-like possible testicular tissue in the left groin that resulted in a left groin exploration. She had multiple bladder stones, so an open cystolithotomy was performed simultaneously. In the operating room, no testicle was identified in either groin. Following the left inguinal exploration, she had periodically stopped her depo-lupron, and follow-up ultrasensitive testosterone, ultrasensitive luteinizing hormone, follicle-stimulating hormone, and anti-Mu ¨llerian hormone levels were respectively 145 ng/dL, 3.5 mIU/mL, 1.33 mIU/ mL, and 3.4 ng/dL. With a rising ultrasensitive testosterone off lupron, there was no doubt that an ectopic functioning testicle was still present. Before any more invasive studies were considered, all the previous localization studies, including the studies done at outside institutions, were reviewed internally. One MR angiogram from an outside institution demonstrated an ovoid structure of high T2 signal intensity in the right ischiorectal fossa (Fig. 1) that was suspicious for an ectopic testicle. We took the patient to the operating room for right pelvic exploration. Upon careful dissection, we were able to enter the deep pelvic region through the pubic symphysis area. Examination revealed a testicular like structure without a gubernaculum, but with a vas deferens and spermatic vessels. This was removed in its entirety, and sent for histologic evaluation (Fig. 2). Histological examination showed immature and unremarkable seminiferous tubules without atypia, similar to that reported in other 46, XY cloacal exstrophy patients [1]. Immunohistochemical stains for Oct-4, CD117, and placental alkaline phosphatase were negative, indicating no evidence of intratubular germ cell neoplasia. The patient’s lupron was discontinued, and at 2 months’ follow-up after the right orchiectomy, the patient’s testosterone was zero and she still declared herself a female.
409
Figure 1 Axial fat-saturated T2-weighted image through the pelvis at the level of the femoral heads shows an ovoid structure (vertical arrow) of high T2 signal intensity in the ischiorectal fossa, consistent with an ectopic testis (subsequently confirmed at surgery). A linear high T2 signal intensity structure (horizontal arrow) extends anteriorly from the ectopic testis, presumably the spermatic cord.
Discussion Management of patients with 46, XY cloacal exstrophy is becoming more controversial as long-term studies suggest that prenatal testosterone exposure imprints the brain of these children prior to puberty, and contributes to male sexual identity [2]. We believe this case contributes to the discussion currently developing over management of 46, XY cloacal exstrophy patients. In newborns with cloacal exstrophy, the genital treatment options include orchidopexy with phallic reconstruction, orchiectomy with phallic reduction and vaginoplasty, or delaying gender assignment until puberty. Determining whether orchidopexy or orchiectomy is more appropriate
Figure 2 Testicular tissue from right pelvis, showing immature seminiferous tubules with no evidence of malignancy (hematoxylin and eosin).
410 for patients with 46, XY cloacal exstrophy presents a unique challenge for the pediatric urologist. Using a team approach (urologist, endocrinologist, psychiatrist) that pays special attention to the long-term effects of gender reassignment is advocated by many pediatric urologists today [3,4]. While some recommend delaying gender assignment of patients with ambiguous genitalia until puberty [5], this case illustrates that waiting may not solve all the psychiatric issues. Interestingly, this patient was in a unique situation whereby she was presumed to have had bilateral orchiectomies as an infant, and then was raised as a girl, only to discover later after developing male secondary sexual characteristics at puberty that she was in fact genotypically a male. Despite these unusual circumstances, she continues to identify as female, and appears to be much happier after removal of her ectopic testicular tissue. This case illustrates that gender association can be independent of testosterone imprinting, and can even overcome the testosterone surge that occurs at puberty in males. This patient was uncomfortable with her testosterone surge, and elected to have the source of testosterone removed so she could continue to be a girl. This case also illustrates the fact that even though a patient is presumed to have had bilateral orchiectomies by history, the clinician should be aware that testicular tissue may still be present, and act accordingly. Without complete medical records of the orchiectomy or if there is any doubt about whether or not both testes were completely removed, an HcG stimulation test and/or diagnostic laparoscopy might be helpful to determine whether any testosteroneproducing tissue is present. Some of the adverse psychological events associated with this patient’s testosterone surge in adolescence may have been avoided if an HcG stimulation test had been performed before she reached puberty. However, diagnostic laparoscopy would not have helped locate the testis in this case, as this patient has had multiple abdominal surgeries and laparoscopy would not have been informative. Unfortunately, other modalities for locating an ectopic testis are not very reliable. MRI, CT and ultrasound can all be utilized, but the sensitivity and specificity of each are not very high. Hrebinko and Bellinger [6] studied the usefulness of radiography for localization of cryptorchid testes and reviewed 23 radiographic studies in 18 boys. Operative exploration was performed in 16 of these 18 boys, and there were a total of 19 undescended testes. Ultrasonography (US) correlated with the operative findings in 7 of 12 cryptorchid testes (58%), while CT and MRI correlated in 4 of 12 (33%) and 0 of 1 (0%), respectively. The overall accuracy of radiological testing was 44%. Kanemoto et al. [7] also evaluated the accuracy of US and MRI for diagnosing non-palpable testis in 56 patients with this condition, and studied the clinical usefulness of US and MRI before surgical exploration. They report that US had a sensitivity of 76%, a specificity of 100%, and an accuracy of 84% for diagnosing a non-palpable testis, whereas MRI had a sensitivity of 86%, specificity of 79%, and accuracy of 85%. There were no statistically significant differences in the accuracy rates of US and MRI for diagnosing non-palpable testis. While the literature demonstrates that preoperative radiography for undescended testis is unnecessary, we were fortunate to locate the testis on MRI after carefully and thoroughly reviewing all the imaging studies. Had we been unable to
H. Mirheydar et al. locate the testis preoperatively, the patient would have required an extensive abdominal exploration possibly involving a takedown of her augmentation cystoplasty in order to locate the testis. The need for better testis localization studies is important not only for patients such as this, but also for more straightforward cases of cryptorchidism. One final point about this case is the fact that the testis remained in the abdomen for 17 years. Had the patient requested male gender assignment, a decision would have had to be made as to whether to leave the gonad in the abdomen, or perform an orchiectomy followed by exogenous testosterone replacement. Leaving the gonads in the abdomen is a possibility, and the testicular histology findings reported from this cloacal exstrophy patient are no different to those presented by Matthews et al. [1]. These authors reviewed the gonads from 15 genotypic males with cloacal exstrophy who had undergone gender conversion in infancy, with gonadectomy performed at a mean age of 6 months. After histological analysis was performed on the testes of these cloacal exstrophy patients, no differences in the architecture of the rete testis, epididymis, and vasa from normal infantile testes were observed. Furthermore, the seminiferous tubular histology was normal, and there was no evidence of intertubular neoplasia, which was consistent with the histology findings of our patient’s ectopic testis. This testicular histology finding differs from those of isolated cryptorchidism patients reported by Pettersson et al. [8] in that the lack of testicular descent is not associated with abnormalities in testicular histology, or an increased risk of testicular neoplasia, and may suggest that the mechanism for ectopic testis in cloacal exstrophy patients differs from that in isolated cryptorchidism. Indeed, Matthews et al. suggest that the intra-abdominal pressure associated with the abdominal wall defect in cloacal exstrophy patients, not histological abnormalities, may be a causative factor contributing to the testicular descent in this group of boys. In this case a patient was raised female, but unintentionally exposed to testosterone at puberty. At 17 years of age, nearing the end of puberty, the patient elected orchiectomy as she identified as female, and is currently doing well embracing feminization, although she does require continued psychiatric support. We believe this case illustrates the complexity of gender assignment in 46, XY patients with cloacal exstrophy as well as the difficulties of locating an ectopic testis utilizing even the latest radiographic modalities.
Conflict of interest None.
Funding None.
References [1] Matthews RI, Perlman E, Marsh DW, Gearhart JP. Gonadal morphology in cloacal exstrophy: implications in gender assignment. BJU Int 1999;84:99e100.
Cloacal exstrophy and masculinization at puberty [2] 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;350:333e41. [3] Diamond DA, Burns JP, Mitchell C, Lamb K, Kartashsov AI, Retik AB. Sex assignment for newborns with ambiguous genitalia and exposure to fetal testosterone: attitudes and practices of pediatric urologists. J Pediatr 2006;148: 445e9. [4] Clinical guidelines for the management of disorders of sex development in childhood. Copyright Intersex Society of North America; 2006.
411 [5] Wilson BE, Reiner WG. Management of intersex: a shifting paradigm. J Clin Ethics Winter 1998;9(4):360e9. [6] Hrebinko RL, Bellinger MF. The limited role of imaging techniques in managing children with undescended testes. J Urol 1993;150:458e60. [7] Kanemoto K, Hayashi Y, Kojima Y, Maruyama T, Ito M, Kohri K. Accuracy of ultrasonography and magnetic resonance imaging in the diagnosis of non-palpable testis. Int J Urol 2005;12:668e72. [8] Pettersson A, Richiardi L, Nordenskjold A, Kaijser M, Akre O. Age at surgery for undescended testis and risk of testicular cancer. N Engl J Med 2007;356:1835e41.