Persistence of müllerian duct structures in a genetic male with distal monosomy 10q.

Persistent müllerian duct syndrome (PMD) with antimüllerian hormone (AMH) deficiency is usually associated with mutations or deletions of the AMH gene, although many cases have no identified gene association. We report on a genetic male with PMD and AMH deficiency associated with distal monosomy 10q. A term 3,230 g infant was born to a healthy 27-year-old. Fetal ultrasound had shown possible genital ambiguity. Postnatal exam showed a 0.5 cm phallus with basal meatus, normal scrotum with no palpable gonads, no vaginal orifice, and a rectal fistula with an imperforate anus. Voiding cystourethrogram with ultrasound, cystoscopy, and laparoscopy showed normal bladder, urethral orifice, distal vagina, cervix, and bilateral abdominal testis. At 24 hours of life, testosterone was within normal range with low AMH level. Chromosome microarray analysis showed 46, XY, del10(10q25.3q26.13) involving an 8.2 MB interstitial deletion. Whole exome sequencing identified a NOTCH2 variant (1p11.2). AMH sequencing revealed no abnormalities. Following multidisciplinary team and parent discussion, male gender was assigned. Testosterone treatment resulted in penile length of 1.5 cm. Bilateral orchiopexy and posterior sagittal anorectoplasty were performed at 11 months of age; rudimentary müllerian structures were identified. This observation suggests an association of 10qter elements with male differentiation including AMH expression and is similar to a patient with 46, XY, del(10q26.1) in which AMH levels were not reported. Regional candidate genes include FGFR2 (10q26.13). The possible contribution of a NOTCH2 variant cannot be excluded.

Utility of an intra-operative cystogram with a simulated voiding phase after endoscopic treatment of vesicoureteral reflux.

PURPOSE: To assess the utility of intraoperative cystogram with a simulated voiding phase after endoscopic treatment of vesicoureteral reflux (VUR). METHODS: From September 2003 to June 2005, 24 children underwent injection of deflux for the treatment of VUR. A total of 38 ureters were treated. After deflux injection, our most recent 14 patients had a cystogram with simulated voiding phase to assess for the presence of VUR. All patients were scheduled for a voiding cystourethrogram (VCUG) three months postoperatively to assess for persistent reflux. The surgery was considered a success only if patients did not demonstrate reflux on their postoperative VCUG. RESULTS: Of the 24 patients undergoing deflux injection, 14 had complete resolution of their VUR. Eight patients had persistent VUR and 2 patients were lost to follow-up. A total of 38 ureters were injected. Twenty-seven ureters no longer refluxed, while 8 ureters continued to reflux and 3 ureters were lost to follow-up. Fourteen patients had an intra-operative cystogram with simulated voiding phase. The intra-operative cystogram with simulated voiding phase was negative in all patients except for one patient who demonstrated the presence of de novo contralateral VUR. There were 7 true negatives on intra-operative cystogram with a simulated voiding phase and 6 false negatives. CONCLUSIONS: Our results of endoscopic treatment of VUR compare well to the results reported by others in the literature. An intra-operative cystogram may demonstrate unsuspected contralateral reflux but does not appear to predict the success of deflux injections.

Impact of stone location on success rates of endoscopic lithotripsy for nephrolithiasis.

OBJECTIVES: To determine whether stone location affects the stone-free rates of endoscopic lithotripsy for nephrolithiasis. METHODS: From January 2002 to August 2006, 245 patients with 272 stones, ranging from 4 to 20 mm in size, underwent ureteroscopy (URS) with laser lithotripsy at West Virginia University Hospital. The patients were followed up postoperatively with noncontrast spiral computed tomography, abdominal plain radiography, renal ultrasonography, or retrograde pyelography. Patients were considered to have been treated successfully if they had no residual stones. All pediatric patients were excluded, as were all patients with stones greater than 2 cm. Also, patients who had undergone previous shock wave lithotripsy, percutaneous nephrolithotripsy, or URS by an outside urologist were excluded. RESULTS: A total of 86 kidney stones were treated with URS and laser lithotripsy. Of these, 81 (94.2%) were successfully treated. Five patients (5.8%) had persistent stones. All 18 upper pole stones (100%) were cleared, 23 (95.8%) of 24 middle pole stones were cleared, and 40 (90.9%) of 44 lower pole stones were cleared (P = 0.338). CONCLUSIONS: URS is an important tool for treating nephroureterolithiasis with excellent success rates and minimal morbidity. The results of our study have shown that stone location does not significantly affect stone clearance rates when performing endoscopic lithotripsy for intrarenal calculi.

Pediatric xanthogranulomatous pyelonephritis masquerading as complex renal mass.

We present a case of focal xanthogranulomatous pyelonephritis (XGP) in a pediatric patient. This case illustrates the variable presentation of the entity and the difficulty in making a preoperative diagnosis. In contrast to the usual diffuse form of XGP, the focal form permits less radical treatment in cases such as this one. This case, however, did not exhibit any of the usual features of XGP reported in large series, making preoperative planning problematic.

Laparoscopic pyeloplasty for ureteropelvic junction obstruction in a horseshoe kidney.

With a continued movement toward minimally invasive surgical interventions, the range of applications treated with laparoscopic surgery will continue to grow. Laparoscopy is a preferred method for various reasons, including decreased postoperative pain, shorter inpatient hospital stays, and decreased convalescence. Ureteropelvic junction obstruction (UPJO) has traditionally been treated by open pyeloplasty. In patients with horseshoe kidneys, the blood supply is aberrant, which adds complexity to the procedure. We present the second reported case of a pediatric patient with a horseshoe kidney found to have UPJO who was successfully treated with transperitoneal laparoscopic pyeloplasty.

Impact of patient age on distal hypospadias repair: a surgical perspective.

OBJECTIVES: To assess whether the age at which the initial hypospadias repair is performed influences the complication rate of hypospadias repair. METHODS: The records of 325 consecutive patients who underwent initial hypospadias repair were reviewed. The patients with glanular and coronal hypospadias underwent repair with either meatoplasty and glanuloplasty or a glans approximation procedure. Patients with subcoronal hypospadias and penile hypospadias underwent repair with tubularized incised plate urethroplasty. The patients were divided into 6-month age groups, and the complication rates were analyzed by age group using the chi-square test. RESULTS: A total of 325 hypospadias repairs were performed from January 1999 to January 2005 by a single surgeon. Of the 325 cases, 194 tubularized incised plate procedures were performed, 69 meatoplasty and glanuloplasty procedures were performed, and 53 glans approximation procedures were performed. Nine tubularized island flap urethroplasties performed for penoscrotal hypospadias were excluded because we did not perform a significant number of proximal urethroplasties. Nineteen patients (6.0%) developed urethrocutaneous fistulas and six (1.9%) demonstrated dehiscence. Overall, 2 patients (2.2%) who underwent surgical repair within the first 6 months of age developed complications compared with 23 patients (10.3%) who underwent initial hypospadias repair when they were older than 6 months of age (P = 0.006). CONCLUSIONS: Tubularized incised plate, meatoplasty and glanuloplasty, and glans approximation urethroplasty are all excellent options for the surgical correction of hypospadias in the appropriately selected patient. The results of our study have indicated that complications are minimized when hypospadias repair is performed when the patient is 4 to 6 months of age.

Contemporary management of renal trauma.

The genitourinary tract is frequently involved in various types of trauma to the chest, abdomen and pelvis. Genitourinary trauma is typically divided into upper tract trauma and lower tract trauma. Upper tract trauma involves injury to kidney and ureter while lower tract trauma typically involves bladder or urethral injury. This review will focus on current trends in the diagnosis, evaluation and treatment of renal trauma.