Complexities of gender assignment in 17β-hydroxysteroid dehydrogenase type 3 deficiency: is there a role for early orchiectomy?

BACKGROUND: 17β-Hydroxysteroid dehydrogenase type-3 (17βHSD-3) deficiency is a rare cause of 46,XY disorders of sex development. The enzyme converts androstenedione to testosterone, necessary for masculinization of male genitalia in utero. 17βHSD-3 deficiency is frequently diagnosed late, at puberty, following virilization, with consequent female-to-male gender reassignment in 39-64%. The decision for sex of rearing is difficult, especially if diagnosed in early childhood. Consensus guidelines are equivocal or support male gender assignment. Long-term outcomes data to guide decisions are also lacking; however, in the few cases of early diagnosis and orchiectomy, female gender retention appears more likely. We report two patients with 17βHSD-3 deficiency, who presented at unusual ages, in whom female gender was chosen. We performed a focused literature review and summary of gender outcomes in 17βHSD-3 deficiency following early orchiectomy. CASES: Patient A was a phenotypic female who presented at one year of age with bilateral inguinal hernias and external female genitalia. Testes were identified at surgery. The karyotype was 46,XY. She was initially diagnosed with complete androgen insensitivity syndrome; however, androgen receptor mutation analysis was negative. Human chorionic gonadotropin stimulation yielded a low testosterone: androstenedione ratio (0.6, normal >0.8). Genetic testing demonstrated compound heterozygosity for two known mutations of the HSD17B3 gene. She underwent bilateral orchiectomy at two years of age. Patient B was born with female genitalia and virilized at 13 years of age. She did not seek evaluation until 22 years of age. Her karyotype was 46,XY. She had bilateral inguinal testes and low testosterone: androstenedione ratio (0.3). HSD17B3 gene sequencing showed her to be a compound heterozygote for two known mutations. She identified herself as female and underwent bilateral orchiectomy and estrogen replacement therapy. CONCLUSIONS: These two patients highlight the complexities of diagnosis and management in 17βHSD-3 deficiency. Although existing data are limited, early orchiectomy is likely to result in retention of female gender identity, avoiding the complications related to virilization in adolescence. As such, it is important to pursue a definitive diagnosis to guide clinical decisions, and to have the support and long term follow up with an inter-disciplinary disorders of sex development team

Kidney and Urinary Tract Diseases in the Newborn

VIII, 378 p. 128 illus., 56 illus. in color.onlin

The Persistent Cloaca

Normally, at birth, females have separate perineal orifices for the urinary, reproductive and digestive tracts, while males have individual openings for the urogenital and digestive tracts. However, during fetal development, both sexes pass through a stage when all the systems empty into a common chamber, the cloaca. The cloaca opens to the exterior through a solitary opening until it divides into the various systems. Occasionally, the tracts do not separate and the baby is born with a persistent cloaca. It is a complex anomaly that is often associated with abnormalities in other systems that have to be taken into consideration to manage the patient appropriately

The Posterior Sagittal Approach for Recurrent Genitourinary Pathology

Purpose: The posterior sagittal transanorectal approach offers the surgeon excellent exposure to the lower genitourinary system. The approach has been successfully used for revisional surgery involving the urinary tract and rectum. We have used this approach to treat müllerian remnants, acquired or congenital fistulas and acquired urethral strictures. In the setting of revisional surgery abdominal or perineal approaches may not provide the same level of exposure to the lower urinary tract. Materials and Methods: Of 911 males who underwent a posterior sagittal approach 12 were identified in whom this approach was used to manage lower urinary tract problems without associated anorectal malformation (group 1). An additional 58 patients with associated anorectal malformations were included in analysis (group 2). Results: All cases were approached with a posterior sagittal incision to facilitate exposure after failed prior surgical attempts to treat traumatic strictures of the proximal urethra in 4 and müllerian remnants in 8 (group 1). In group 2 there were 19 urethral diverticula, 8 strictures and 31 persistent rectourethral fistulas. Followup was 6 months to 15 years. There were no recurrences identified in group 1. In group 2 there were 5 postoperative urethrocutaneous fistulas. Data on potency were available on 4 patients in group 1 and 14 in group 2. All 14 patients in group 2 reported intact potency after surgery. One patient in group 1 was impotent before and after surgery. Conclusions: The posterior sagittal approach is helpful for addressing lower urinary tract pathology when exposure is inadequate from a perineal or abdominal approach. We propose that better exposure with this approach may limit inadvertent injury to nerves and result in more complete treatment of the presenting pathological condition. This approach provides an alternative that warrants careful consideration when dealing with the lower genitourinary tract in pediatric patients, especially in the setting of revisional surgery. © 2007 American Urological Association

Creation of an appendicovesicostomy mitrofanoff from a preexisting appendicocecostomy utilizing the spilt appendix technique

Continent catheterizable channels have revolutionized reconstructive surgery to achieve both urinary and fecal continence. The Mitrofanoff and Malone antegrade continent catheterizable channels offer improved quality of life relative to permanent incontinent stomas. A frequently employed surgical option for creating a Mitrofanoff when an existing appendicocecostomy exists involves harvesting a separate piece of intestine. If however the Malone has preceded the creation of a Mitrofanoff, we describe a surgical technique that may avoid the need for a bowel harvest and resultant anastomosis. We report our series of patients utilizing a novel alternative strategy in the select clinical circumstance of an existing appendicocecostomy to expand the armamentarium of the urologic reconstructive surgeon. © 2014 Elsevier Inc

Acquired posterior urethral diverticulum following surgery for anorectal malformations

Purpose: Despite significant advances in the surgical management of anorectal malformations (ARMs), many children still experience significant debilities from potentially avoidable complications. One complication, the posterior urethral diverticulum, may have untoward consequences if not recognized and treated. Methods: A retrospective cohort review was undertaken of male patients who presented to us with persistent problems after being operated on elsewhere for ARM. Twenty-nine patients presented with a urethral diverticulum. Their charts were reviewed for the type of malformation, prior repair, presentation, treatment, and postoperative follow-up. Results: Twenty-nine patients were identified that fit the criteria for this study. To date, 28 patients have been managed with reoperation. Urinary complaints were the most common presenting symptoms. All patients were repaired using a posterior sagittal approach. Pathology of the diverticulum in one patient revealed a well-differentiated mucinous adenocarcinoma. Conclusion: The incidence of acquired posterior urethral diverticulum has decreased with the popularization of the posterior sagittal incision. There is a theoretical concern that the incidence may increase with the use of laparoscopy for the treatment of ARMs especially those where the fistula is below the peritoneal reflection. Once detected, the diverticulum should be excised. © 2011 Elsevier Inc. All rights reserved

Epididymitis in patients with anorectal malformations: A cause for urologic concern

Introduction: Epididymitis in patients with anorectal malformation (ARM) represents a unique problem because unlike the general population, an underlying urinary tract problem is frequently identified. We review our experience with epididymitis in ARM population with an emphasis on examining urologic outcomes. Materials and Methods: We performed a retrospective review of male patients with ARM cared for from 1980 to 2010. Clinical and pathologic variables recorded included age at presentation, recurrence, associated urologic anomalies, incidence of ureteral fusion with mesonephric ductal structures, glomerular filtration rate and urodynamic parameters. Results: Twenty-six patients were identified with documented episodes of epididymitis. Renal injury was noted in five patients (19%), all of whom were diagnosed with neurogenic bladder (NGB) several years after anorectoplasty. NGB was found in ten patients (38%) in our series. Ectopic insertion of ureter into a mesonephric ductal structure was discovered in five patients (19%). Twelve patients (46%) had recurrent episodes of epididymitis, with seven of these patients (58%) being diagnosed with NGB. Two patients in the pubertal group presented with a history of epididymitis and complained of ejaculatory pain. Conclusion: Epididymitis in a patient with ARM warrants a comprehensive urologic investigation, particularly in recurrent episodes. Attempts at surgical intervention (e.g. vasectomy) should be avoided until functional assessment of the urinary tract has occurred. Failure to recognize this association may lead to potentially avoidable complications and morbidity. Long term urological follow up of these patients is warranted to identify at risk patients and minimize renal deterioration

The association of the severity of anorectal malformations and intestinal malrotation

© 2016 Elsevier Inc. Introduction Intestinal malrotation is a known association of anorectal malformations (ARM). Exact incidence, prognosis and surgical implications related to ARM are unknown. The aim of this study was to identify relevant associations between ARM and the presence of malrotation. Methods Records of patients from two referral centers were retrospectively analyzed looking for malrotation associated to ARM and its management, as well as factors for functional prognosis. Results 40 patients out of 2572 with ARM (1.6%) were found to have malrotation. Females were more commonly affected, and severe malformations were more frequent (cloaca, covered cloacal exstrophy in females and rectoprostatic and rectobladder neck fistula in males). Factors significantly associated with malrotation included Müllerian or Wolffian duct anomalies (P \u3c 0.05), while fecal continence status, presence of constipation, and use of laxatives or enemas were not. Detecting and correcting malrotation early on or at the time of colostomy creation represented a protective factor against additional surgeries for bowel obstruction and volvulus (P \u3c 0.001). Removal of the appendix during malrotation treatment required constructing a neoappendicostomy using a cecal flap in 9 out of 14 patients needing antegrade enema administration. Conclusions Malrotation presence in patients with ARM has the same frequency as in the general population, but it is more common in severe malformations. Surgeons treating these patients should address the malrotation at the time of colostomy opening if detected. The appendix should be preserved for potential future use as an appendicostomy for antegrade administration of enemas