Update on the management of disorders of sex development.

A number of factors have contributed to a sharp increase in the number of publications related to disorders of sex development (DSD) in the past 5 years, namely: the establishment of a consensus in 2006 about nomenclature, investigations and the need to treat these patients in a multidisciplinary setting; increase of the knowledge base about genetic mechanisms of normal and abnormal sex development; critical appraisal about the timing and nature of genital surgery in patients with DSD. Herein, the authors present a comprehensive review with up-to-date data about the approach to the newborn with ambiguous genitalia as well as the diagnosis and management of the most common DSD.

Surgical treatment of high urogenital sinuses using the anterior sagittal transrectal approach: a useful strategy to optimize exposure and outcomes.

PURPOSE: Surgical management of the high urogenital sinus remains challenging. The anterior sagittal transrectal approach provides optimal exposure, facilitates vaginal dissection and separation from the urethra, and allows reconstruction of the bladder neck musculature. In this study we report our initial experience with this technique. MATERIALS AND METHODS: We performed a retrospective review of a 6-year multi-institutional experience treating patients with a urogenital sinus anomaly using the anterior sagittal transrectal approach without preoperative colostomy or prolonged postoperative fasting. Variables analyzed included patient age, associated malformations, the need for additional procedures and surgical outcomes. RESULTS: A total of 23 children with a mean age of 2.3 years (range 3 months to 17 years) who underwent surgery between 2003 and 2010 were included in the study. Mean followup was 3.4 years (range 14 months to 7 years). All children had a high urogenital sinus with (16) or without (7) congenital adrenal hyperplasia. There were 3 isolated cases treated with additional procedures. Only 1 anterior sagittal transrectal approach related complication was encountered when a perineal infection developed in a child and required temporary diverting colostomy without compromising the repair. There were no postoperative urethrovaginal fistulas. All toilet trained patients were continent for feces and most were voiding normally per urethra (21), except for 2 with associated urological malformations. There were 15 patients who underwent followup examination under anesthesia, and demonstrated separate urethral and vaginal openings. CONCLUSIONS: The anterior sagittal transrectal approach provides excellent exposure for the management of a high urogenital sinus, facilitating the separation of urogenital structures. Good outcomes in terms of urinary/fecal continence as well as the absence of urethrovaginal fistulas were achieved in the majority of cases, supporting its consideration for the surgical management of this congenital abnormality.

Can we spare removing the adrenal gland at radical nephrectomy in children with wilms tumor?

PURPOSE: In patients with Wilms tumor indications for adrenalectomy are not well-defined. Following the rationale for preserving the adrenal gland in cases of other renal malignancies we determined predictors of adrenal involvement and the impact of adrenalectomy on retroperitoneal recurrence. MATERIALS AND METHODS: We retrospectively reviewed the record of patients who underwent surgical resection as primary treatment for Wilms tumor between 1990 and 2008 at 2 Canadian pediatric centers. Patient and tumor characteristics were reviewed to determine potential links to adrenal involvement. Recurrence was evaluated as a time dependent variable based on followup duration. RESULTS: Of 180 patients diagnosed with Wilms tumor 95 underwent initial radical nephrectomy. Mean ± SD age at diagnosis was 46 ± 38 months and mean survival followup was 189 ± 8.3 months. Disease was stage 1 to 4 in 28, 34, 23 and 4 patients, respectively. Adrenalectomy was done in 58 patients (61%). Only 1 adrenal gland was reportedly positive for tumor invasion while peri-adrenal fat involvement was noted in 3 patients. No studied patient or tumor characteristics predicted involvement. No statistically significant difference in retroperitoneal recurrence was found between the groups in which the adrenal gland was removed vs preserved. CONCLUSIONS: Adrenal involvement in patients with Wilms tumor is rare and difficult to predict. Preserving the adrenal gland was not associated with an increased risk of local recurrence. Thus, it seems prudent to avoid adrenalectomy at radical nephrectomy when technically feasible, instead attempting to otherwise remove all peri-adrenal fat with the specimen.

Outcome of antibiotic prophylaxis discontinuation in patients with persistent vesicoureteral reflux initially presenting with febrile urinary tract infection: time to event analysis.

PURPOSE: The use of antibiotic prophylaxis for preventing urinary tract infections has recently been called into question. Some studies support discontinuation of antibiotic prophylaxis in selected groups of children with vesicoureteral reflux. We report on the outcome of this practice in a cohort of patients assembled based on initial presentation with a febrile urinary tract infection. MATERIALS AND METHODS: We retrospectively reviewed records of patients with persistent vesicoureteral reflux without symptoms suggestive of dysfunctional elimination who discontinued antibiotic prophylaxis after being toilet trained. Exclusion criteria consisted of secondary reflux and previous surgery for vesicoureteral reflux. End points included development of febrile urinary tract infections, renal abnormalities on followup ultrasound and need for further interventions. Infection-free survival was analyzed using the Kaplan-Meier method and compared using the log rank and Cox's tests. RESULTS: We evaluated 84 girls and 26 boys with a mean age of 5.4 years. Febrile urinary tract infections developed in 10 girls and 1 boy at an average of 17.2 months after discontinuation of antibiotic prophylaxis. In a time to event analysis group comparison showed no significant differences when patients were stratified by gender (p = 0.22), age at antibiotic prophylaxis discontinuation (p = 0.14) or disease laterality (p = 0.23). However, a significant difference was found in number of patients with high grade vesicoureteral reflux (III to V, p = 0.05) and development of symptoms suggestive of bladder/bowel dysfunction (p <0.01). CONCLUSIONS: Our data support antibiotic prophylaxis discontinuation in the majority of patients with persistent vesicoureteral reflux who initially present with a febrile urinary tract infection, once their elimination habits have been optimized. Those with high grade reflux appear to be at increased risk for recurrent urinary tract infections. Development of dysfunctional elimination symptoms appears to be a risk factor amenable to treatment.

Bilateral ureteral reimplantation at primary bladder exstrophy closure.

PURPOSE: We present the outcomes of children who underwent concurrent complete primary repair of bladder exstrophy and bilateral ureteral reimplantation vs those undergoing bladder exstrophy repair alone, focusing on the rate of postoperative febrile urinary tract infections. MATERIALS AND METHODS: We performed complete primary repair of bladder exstrophy with bilateral ureteral reimplantation using a cephalotrigonal technique in 15 patients (group 1) and without bilateral ureteral reimplantation in 23 patients (group 2). Postoperative assessment included ultrasound and voiding cystourethrogram in all patients. Outcome measurements included postoperative febrile urinary tract infections, hydronephrosis and presence of vesicoureteral reflux. RESULTS: Mean followup was 34 months (range 6 to 54) for group 1 and 70 months (23 to 117) for group 2. Median age at surgery was 3 days for both groups (range 1 to 140). There were 10 boys and 5 girls in group 1, and 11 boys and 12 girls in group 2. Two of 15 patients (13%) in group 1 had hydronephrosis postoperatively compared to 10 of 23 (43%) in group 2 (p = 0.05). One patient in group 1 (7%) had a febrile urinary tract infection vs 11 (48%) in group 2 (p = 0.01). No patients in group 1 had postoperative vesicoureteral reflux compared to 17 (74%) in group 2 (p = 0.04). There were no complications related to ureteral reimplantation. CONCLUSIONS: Bilateral ureteral reimplantation can be safely and effectively performed during primary closure of bladder exstrophy in newborns, potentially reducing postoperative febrile urinary tract infections and hydronephrosis by early correction of vesicoureteral reflux.

Hypospadias in males with intrauterine growth restriction due to placental insufficiency: the placental role in the embryogenesis of male external genitalia.

Our aim was to define the association between early onset intra-uterine growth restriction (IUGR) due to placental insufficiency and hypospadias in males. We prospectively studied a cohort of small-for-gestational age (SGA) male infants with hypospadias managed by a multidisciplinary team over a 5-year period. Thirty SGA male infants were diagnosed with hypospadias/abnormal genitalia after birth, and four of them were diagnosed antenatally. Five cases occurred in the smaller pair of discordant IUGR twins, where the larger co-twin had normal male genitalia. Serial ultrasounds demonstrated features of early-onset IUGR in all cases at a median gestational age of 21 weeks (range 14-31weeks). Twenty-one (70%) pregnancies were subsequently complicated by absent/reversed end-diastolic flow in the umbilical arteries indicating severe IUGR, and 17 (57%) women developed severe pre-eclampsia. There were 27 (90%) live births at a median gestational age of 31 weeks (range 27-37); 23 (77%) of the neonates had birth weights <3rd centile. All newborns had normal male karyotypes. In 62% (18/29) the hypospadias was severe. A correlation was found between the severity of the IUGR and the severity of hypospadias as significantly more infants with severe hypospadias were less than the 3rd centile compared to the mild-moderate hypospadias group: 94% (17/18) versus 55% (6/11), respectively (P = 0.02). In conclusion, SGA male newborns with hypospadias exhibit a high rate of early-onset severe IUGR due to placental insufficiency. Early placental development likely influences male external genitalia formation. Careful sonographic evaluation of the genitalia is advised when early-onset placentally mediated IUGR is found.

Comparison of flank, dorsal lumbotomy and laparoscopic approaches for dismembered pyeloplasty in children older than 3 years with ureteropelvic junction obstruction.

PURPOSE: Selecting a surgical approach for correction of ureteropelvic junction obstruction in children is mostly driven by surgeon preference, and includes laparoscopy, flank incision and dorsal lumbotomy. Comparative analyses focusing on operative time, hospital stay and complications are lacking. MATERIALS AND METHODS: We retrospectively reviewed the charts of 41 consecutive patients older than 3 years who underwent laparoscopic pyeloplasty by a single surgeon between 2005 and 2008. We compared these cases to 67 age matched cases managed by flank incision (42) or dorsal lumbotomy (25). We evaluated age at surgery, operative time, performance of retrograde pyelogram, length of hospitalization and complication/failure rates. RESULTS: Mean patient age was 7.3 to 8.1 years. Mean operative time was significantly longer for laparoscopy (178 minutes) compared to flank incision (144) and dorsal lumbotomy (148, p = 0.01). Mean hospital stay was significantly shorter for laparoscopy (2.3 days) compared to flank incision (3.6) and dorsal lumbotomy (3.3, p = 0.01). Complications occurred in 4 laparoscopic, 2 flank incision and 2 dorsal lumbotomy procedures. Patients who underwent laparoscopic pyeloplasty had a significantly shorter mean followup (28 months) compared to flank incision (49) and dorsal lumbotomy (47, p = 0.02). CONCLUSIONS: Overall complication rates were not significantly different for the 3 pyeloplasty approaches. For the evaluated outcomes our data do not favor one particular surgical access over others in children older than 3 years.

Open versus laparoscopic staged Fowler-Stephens orchiopexy: impact of long loop vas.

PURPOSE: There is a paucity of literature on factors associated with testicular atrophy following second stage laparoscopic Fowler-Stephens orchiopexy. We hypothesized that dissection of a long looping vas during this procedure could compromise testicular blood supply, leading to testicular atrophy. MATERIALS AND METHODS: Following an initial laparoscopic testicular vessel ligation, a second stage Fowler-Stephens orchiopexy was performed in 73 testes (laparoscopic in 61, open in 12). The presence of a long looping vas was noted from the first stage operative notes. Doppler ultrasound was performed postoperatively to confirm testicular atrophy. RESULTS: Atrophy rate at a mean followup of 13.5 months was 20.5% (15 of 61 in laparoscopic and 0 of 12 in open orchiopexy). None of the 5 long looping vas testes atrophied following open orchiopexy, compared to 5 of 6 (83%) following laparoscopic orchiopexy (p = 0.03). Analyzing the laparoscopic group alone, a long looping vas was significantly associated with risk of atrophy (p <0.01). CONCLUSIONS: The presence of a long looping vas was associated with a higher atrophy rate following laparoscopic second stage Fowler-Stephens orchiopexy. Laparoscopic management of the long looping vas may be more challenging and, therefore, in such cases open Fowler-Stephens orchiopexy may result in better success rates by preserving the integrity of the collateral vessels.

Risk factors for recurrent ureteropelvic junction obstruction after open pyeloplasty in a large pediatric cohort.

PURPOSE: Recurrent ureteropelvic junction obstruction after open pyeloplasty is a serious complication for which treatment remains challenging. We identified risk factors for persistent obstruction. MATERIALS AND METHODS: We retrospectively reviewed the charts of 401 children who underwent open dismembered pyeloplasty between 1997 and 2005. Of these children 21 (5.2%) experienced recurrent ureteropelvic junction obstruction. Age, prenatal diagnosis, hydronephrosis grade, differential renal function, incision location (flank or dorsal lumbotomy), retrograde pyelography and stent placement were analyzed. Univariate and multivariate analyses were performed to identify risk factors for pyeloplasty failure. RESULTS: Median age at surgery was 21 months and median followup was 36 months. Of the 401 patients dorsal lumbotomy was performed in 171 (42.6%) and a flank incision was used in 230 (57.4%). Retrograde pyelography was done in 195 patients (48.6%) and stents were used in 352 (87%). Age, prenatal diagnosis, degree of hydronephrosis, differential renal function and stent placement did not have an impact on pyeloplasty outcome on univariate analysis. Recurrent ureteropelvic junction obstruction developed in 14 of 171 patients who had originally undergone dorsal lumbotomy vs 7 of 230 who had originally undergone a flank incision (8.1% vs 3.1%, p = 0.02) as well as in 17 of 206 who did not undergo initial retrograde pyelography vs 4 of 195 who did (8.3% vs 2.1%, p = 0.005). On multivariate analysis incision type and lack of retrograde pyelography showed significant association with pyeloplasty failure despite adjustment for other risk factors (p <0.05, OR 3.2 and 4.4, respectively). CONCLUSIONS: In this series lack of retrograde pyelography and dorsal lumbotomy were independently associated with a higher risk of recurrent ureteropelvic junction obstruction. While retrograde pyelography or a flank approach could not be directly shown to prevent recurrent ureteropelvic junction obstruction, electing to perform retrograde pyelography may be a proxy for better perioperative planning, including the choice of incision, and it may ultimately increase the chances of successful pyeloplasty.

Current status of bladder neck reconstruction.

PURPOSE OF REVIEW: This paper reviews the literature over the last 3 years on bladder outlet procedures for children with urinary incontinence. The multitude of procedures and need for concomitant bladder augmentation indicates that there is no ideal surgical option for these children. RECENT FINDINGS: The results of bladder neck slings with or without bladder augmentation have been reported in some key studies during this review period. Several modifications of the bladder wrap around sling and modifications of the Kropp-Salle procedure are described. Long-term results of bladder neck injections are highlighted. Preliminary results of complete primary repair of bladder exstrophy are compared with those of staged repair. SUMMARY: Achieving urinary continence is difficult and continues to challenge the reconstructive surgeon. Standardized definition of dryness and further efforts to search for preoperative criteria to define the etiology of incontinence are needed to better assess outcomes.

Tubularized incised plate urethroplasty for distal hypospadias: A literature review.

The tubularized incised plate (TIP) urethroplasty or Snodgrass procedure has gained worldwide acceptance for distal hypospadias repair due to its low complication rate, good cosmetic result, and technical simplicity. As a result, several articles have been published concerning various aspects and subtle variations of this procedure. The aim of this review is to critically and systematically analyze the published complication rates of TIP repair for distal hypospadias in children. We also reviewed the surgical modifications that have been introduced to the original technique and discussed the potential impact on the final outcome of the Snodgrass procedure.

Management of priapism in a child with sickle cell anemia; successful outcome using epidural analgesia.

PURPOSE: To describe the successful management of priapism secondary to sickle cell anemia in a child using neuraxial analgesia provided via an epidural catheter. CLINICAL FEATURES: A seven-year-old male presented with chest crisis and priapism which, following hemoglobin electrophoresis led to a new diagnosis of sickle cell anemia. Epidural management was attempted as an alternative to surgery after failure of more conventional medical and surgical methods to treat the priapism. The patient's clinical condition improved with this intervention and together with further conservative therapy resulted in complete resolution of the priapism. CONCLUSIONS: Priapism is a well described complication of sickle cell anemia that is painful and difficult to manage. Surgical intervention is the last therapeutic resort and often results in significant long-term morbidity. This case highlights how select cases of priapism can be successfully managed with epidural neuraxial blockade which not only provides superior analgesia for the often painful conservative treatments, but may also per se impart a direct and salutary therapeutic benefit.

Pediatric renal cell carcinoma: single institution 25-year case series and initial experience with partial nephrectomy.

PURPOSE: RCC represents less than 2% to 6% of pediatric renal tumors. Few reports of long-term outcomes exist. We sought to determine the presentation, treatment and outcome of patients at our institution. MATERIALS AND METHODS: We retrospectively reviewed the age, mode of presentation, mode of treatment, histological subtype, tumor grade, stage and survival of all patients with RCC from 1980 to 2005. RESULTS: A total of 15 patients were identified. Mean age at presentation was 7.9 years. Symptomatic presentations in nearly 75% of patients included gross hematuria, abdominal pain and polycythemia. The remaining 25% of cases were asymptomatic, and were identified by physical examination or incidentally on imaging. Surgical resection consisted of radical nephrectomy in 10 patients and partial nephrectomy in 5. Pathological analysis revealed papillary RCC in 8 patients and clear cell RCC in 7. Six patients had high stage disease. One patient with stage IV disease died 8 months postoperatively. The remaining 14 patients were alive at a mean followup of 4.9 years. All but 1 patient remain recurrence-free, including all of those who underwent nephron sparing surgery. CONCLUSIONS: To our knowledge this single institution series is the first to include children treated with partial nephrectomy. Pediatric patients with RCC tend to be older and more likely to present symptomatically compared to the typical patient with Wilms tumor. Hematuria and abdominal pain were the most common presentations, and papillary RCC was proportionately more common in this series. Our initial experience suggests that equivalent cure rates can be expected from a nephron sparing approach in appropriately selected cases.

Prospective evaluation of remote, interactive videoconferencing to enhance urology resident education: the genitourinary teleteaching initiative.

PURPOSE: Changes in referral patterns and resource allocation into Centers of Excellence affect the educational experience of urology trainees by altering resident exposure to patients and clinicians, especially at sites where subspecialty deficiencies exist. Access to educators at Centers of Excellence using interactive videoconferencing technology may facilitate residency training objectives and enhance trainees' overall educational experience. We prospectively evaluated the implementation of this technology at tertiary care teaching centers to enhance urology resident education. MATERIALS AND METHODS: Using videoconferencing technology, urology residents at the University of Western Ontario (London, Canada) participated in a series of didactic, interactive pediatric urology teleteaching seminars. These were presented by an expert pediatric urologist from the Hospital for Sick Children, Toronto, Canada. Using a 5-point Likert scale (1-strongly disagree, 5-strongly agree), participants responded to statements pertaining to seminar content, technology and ease of use at the completion of each session. The results were subsequently tabulated and evaluated to determine the effectiveness and accessibility of the program in providing expert pediatric urological education to residents at a remote urology training program. RESULTS: The entire urology resident staff from postgraduate year 1 to 5 participated in the seminar program. The overall acceptance of this medium was high (mean score 4.5). The quality of presentation, as well as picture and sound quality, all received mean scores greater than 4. Participants indicated that their ability to interact with the presenter was not inhibited by using this medium. All participants agreed that they would use this technology in the future (mean score 4.5) and that the presentation would not be improved if the presenter were on-site. Due to preexisting technology at both centers, no direct cost was incurred throughout the study. CONCLUSIONS: Our experience suggests that interactive teleteaching using readily available, existing technology, is a cost-effective and accepted method of providing trainees with an appropriate educational experience. In centers where subspecialty deficiencies exist, this medium may provide residents with the necessary education requirements of their respective programs without the need for costly teacher (or student) travel. Continual improvements in technology as well as the addition of multiple sites will increased this medium's impact in the future.

Urethral lengthening with anterior bladder wall flap for urinary incontinence: a new approach

Urethral irregularity (impending catheterization) and failure to achieve continence are common complications in surgery for urinary incontinence. We describe a surgical technique using an anterior bladder wall flap that is sutured to the posterior wall in an onlay fashion creating a flap valve mechanism. Experimental work in dogs demonstrated a significant increase in the leak point pressure in the surgical group when compared to controls (p= 0.019). Voiding cystourethrography and bladder inspection demonstrated an anterior flap valve with no fistula formation in all animals. Histological examination showed a viable anterior bladder wall flap in all cases. This technique was then applied to 6 patients with neurogenic bladder and low urethral resistance that failed to resolve with medical treatment. Urinary continence was achieved in 4 patients. In 1 patient a vesicourethral fistula developed 3 months postoperatively, since the mother failed to catheterize for 12 hours. This technique is a useful alternative in the treatment of urinary incontinence