Shumyle Alam

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.

Infant robotic pyeloplasty: Comparison with an open cohort

OBJECTIVE To present our experience with infant pyeloplasty, comparing outcomes between robotic-assisted laparoscopic pyeloplasty (RALP) and open pyeloplasty (OP). MATERIALS AND METHODS A retrospective review was performed of all children <1 year of age who underwent unilateral dismembered pyeloplasty at a single pediatric institution since January 2007. Patients with standard laparoscopic pyeloplasty were excluded. Patient demographics, intraoperative details, narcotic usage, and complications were reviewed. RESULTS A total of 70 infants (51 boys and 19 girls) were identified, with nine RALP and 61 OP performed. Median age was 9.2 months (range, 3.7-11.9 months) for RALP and 4.1 months (range, 1.0-11.6 months) for OP (p = 0.005). Median weight was 8 kg (range, 5.8-10.9 kg) for RALP and 7 kg (range, 4-14 kg) for OP (p = 0.163). Median operative time was 115 min (range, 95-205 min) for RALP and 166 min (range, 79-300 min) for OP (p = 0.028). Median hospital stay was 1 day (range, 1-2 days) for RALP and 3 days (range, 1-7 days) for OP (p < 0.001). Median postoperative narcotic use of morphine equivalent was <0.01 mg/kg/day (range, 0-0.1 mg/kg/day) for RALP and 0.05 mg/kg/day (range, 0-2.2 mg/kg/day) for OP (p < 0.001). Median follow-up was 10 months (range, 7.2-17.8 months) for RALP and 43.6 months (3.4-73.8 months) for OP (p < 0.001). The success rate was 100% for RALP and 98% for OP. CONCLUSIONS Infant RALP was observed to be feasible and efficacious with shorter operative time, hospital stay, and narcotic utilization than OP.

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

Background17β-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.CasesPatient 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.ConclusionsThese 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.

Progression of renal insufficiency in children and adolescents with neuropathic bladder is not accelerated by lower urinary tract reconstruction

PURPOSE Children with chronic renal insufficiency and neuropathic bladder resistant to medical management may require lower urinary tract reconstruction before renal transplantation. A low pressure urinary reservoir optimizes the chance of graft survival and may slow native kidney death. We evaluated whether the renal deterioration rate is affected by augmentation cystoplasty. MATERIALS AND METHODS We performed a retrospective cohort study in children who presented to our institution with chronic renal insufficiency and neuropathic bladders from 2005 to 2009. Chronic renal insufficiency was defined as a glomerular filtration rate of less than 60 ml per minute. As a surrogate for renal function change, we used the inverse creatinine trend with respect to time to determine the progression rate of renal insufficiency before and after augmentation. RESULTS A total of 11 patients with a mean glomerular filtration rate of 34 ml per minute per 1.73 m(2), mean bladder capacity 168 ml and mean compliance 3.5 ml/cm H(2)O met study inclusion criteria. Bladder augmentation or replacement was done at a mean age of 9.7 years with a resultant mean capacity of 486 ml and compliance of 14.7 ml/cm H(2)O. Mean followup was 4 years before and 1.9 years after augmentation. There was no statistically significant difference between the preoperative and postoperative slopes of inverse creatinine in 8 of 11 patients (73%). Two of the 3 patients (18%) with different preoperative and postoperative slopes had improving renal function after surgery. There was no statistically significant difference in slopes across all patients. CONCLUSIONS In our series bladder augmentation did not appear to hasten progression to end stage renal disease in patients with severe chronic renal insufficiency and neuropathic bladder.

Urological issues in pediatric renal transplantation.

Purpose of review The pediatric patient with end-stage renal disease provides a great opportunity for the involvement of the pediatric urologist because of the high incidence of associated urologic anomalies. Recent findings Renal transplant remains the procedure of choice in the child with end-stage renal disease. The durability of survival of the graft is impacted by successful management of the genitourinary tract. Summary Preoperative, intraoperative, and postoperative evaluation is critical for the child with associated urologic disease and end-stage renal disease. Early and appropriate management may stabilize renal function and prolong the time to transplant. Due to the relatively long life expectancy of children compared with adults with end-stage renal disease, appropriate management may be of benefit to avoid the morbidity associated with renal replacement therapy. In certain children, the appropriate management and reconstruction of the genitourinary tract may allow for a planned and preemptive renal transplant, thus avoiding dialysis.

Low Incidence of Urinary Tract Infections Following Renal Transplantation in Children With Bladder Augmentation

PURPOSE Children with end-stage renal disease and bladder dysfunction may require augmentation cystoplasty before kidney transplantation. Previous reports have suggested unacceptable urinary tract infection rates in these immunosuppressed patients. We reviewed our experience in this population. MATERIALS AND METHODS We retrospectively studied patients undergoing augmentation cystoplasty and subsequent renal transplantation by a single surgeon between 1989 and 2007. This cohort was compared with a control group on clean intermittent catheterization who had undergone transplantation without augmentation. Patient demographics, etiology of renal failure, surgical details, surgical/allograft outcomes and occurrence of urinary tract infection were analyzed. RESULTS The augmented group included 17 patients with a median age at reconstruction of 6.4 years. Stomach was used in 15 patients and colon in 2. Median time between reconstruction and transplantation was 1.2 years. Median followup after transplantation was 7.7 years. The control group included 17 patients with a median age at transplantation of 10.9 years. Median followup in the controls was 6.1 years. All ureteral reimplantations were antirefluxing. Patients on clean intermittent catheterization were maintained on oral antibiotic suppression and/or gentamicin bladder irrigations. In the augmented group 35 episodes of urinary tract infection were noted, and the number of documented infections per patient-year of followup was 0.22, compared to 32 episodes of urinary tract infection and 0.28 infections per patient-year of followup in the controls. No allograft was lost to infectious complications. CONCLUSIONS In our series there was no increase in urinary tract infection rate following renal transplantation in patients with augmented bladders compared to controls. This finding may be due to the use of gastric augmentation, antirefluxing reimplantation and gentamicin irrigations.

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.

Renal Rhabdomyosarcoma in a Pancake Kidney

Renal rhabdomyosarcoma (RMS) is a rare pediatric tumor. Pancake kidneys are unusual anatomic anomalies resulting when both upper and lower poles of the embryonic kidney become fused. We report on a 4-year-old boy who was discovered to have a stage 4, group IV renal embryonal RMS arising from a pancake kidney with metastases to the lung, pelvis, and bone marrow. Treatment included multimodal therapy, consisting of neoadjuvant chemotherapy, complete surgical resection, and adjuvant chemotherapy. He remains in clinical remission 7 months after resection.

Prenatal and postnatal urologic complications of sacrococcygeal teratomas

PURPOSE Urologic complications are an underappreciated sequelae of the mass effect of sacrococcygeal teratoma (SCT) and its resection. The goal of this study was to evaluate the incidence and severity of urologic complications in patients with SCT. METHODS A retrospective review of patients with a prenatal diagnosis of SCT and postnatal referral for SCT at a single institution during a 5-year period (2004-2009) was performed. The presence of prenatal and postnatal urologic abnormalities were collected and analyzed. RESULTS Thirty patients were identified for inclusion in the study. Twenty-two patients were diagnosed prenatally, 3 patients were referred for resection of the tumor, and 5 patients were initially treated elsewhere and referred after resection for urologic complications. Of the 20 patients with subsequent follow-up included in this study, 9 had neurogenic bladder, 5 of whom also had associated renal injury. All patients with renal injury had a higher grade Altman type II/III lesion. CONCLUSION Urologic problems appear to be common in patients with SCT. Higher grade SCTs should alert the surgeon to possible urologic sequelae, particularly neurogenic bladder and renal injury. Careful urologic evaluation and management of the genitourinary tract should be included in prenatal and preoperative counseling.

Urologic co-morbidities associated with sacrococcygeal teratoma and a rational plan for urologic surveillance

Sacrococcygeal teratoma (SCT) is one of the most common neonatal and fetal tumors. SCT pelvic mass effect and the need for aggressive surgical resection, create potential for urologic co‐morbidity. We reviewed our experience with SCTs and propose a rational plan for urologic surveillance.