Do screening parameters predict response to desmopressin in a primary nocturnal enuresis population?

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Retroperitoneal Approach for Ureteropelvic Junction Obstruction: Encouraging Preliminary Results With Robot-Assisted Laparoscopic Repair

Introduction stating the aim of the study: Robot-assisted laparoscopic pyeloplasty (RALP) is gaining acceptance among pediatric urologists. Few studies have evaluated the retroperitoneal approach for RALP. We share our experience from the first 2 years of a multidisciplinary pediatric robotic program in our center.Patients (or Materials) and Methods: We performed a retrospective analysis of prospectively collected data of children undergoing RALP for ureteropelvic junction obstruction (n = 50). Diagnosis was confirmed by ultrasound and Tc-99m mercaptoacetyltriglycine renal scan or MRI; the same criteria were used to evaluate outcome. Surgical approach was chosen according to a specific algorithm. Transperitoneal approach (n = 13) was reserved for horseshoe kidney, ectopic kidney, and redo surgery. We analyzed the 37 cases performed by a lateral retroperitoneal approach. Dismembered pyeloplasty was done for all cases and anastomosis was performed using a running monofilament 6/0 absorbable suture. All were drained by double J stent. Patient data, operating room parameters and postoperative course were recorded.Results: The median age was 7.9 years (5.1–13.8); the youngest was 2 years old. The median weight was 23 kg (17–41) with the smallest weighing 12.4 kg. Aberrant crossing vessels were present in 18 children. Median set-up time, from skin incision until the end of the 4-port insertion, was 33 min (29–48). Median surgeon's console time was 151 min (136–182). No conversion to an open procedure was necessary. The postoperative course was free of complications, except urinary tract infection in 6 children. All but 4 patients were discharged on day one. Median follow-up was 9 months (5–13). Redo pyeloplasty was not required. Practical training of other colleagues was possible after 10 cases performed by the same surgeon.Conclusion: These preliminary results suggest that retroperitoneal RALP in children is feasible, safe and effective. It is an excellent option with ideal anatomical exposure. Longer term results as well as continued practice will identify and overcome any challenges and enable surgical mastery of this procedure which is still evolving

Mutation Analysis of NR5A1 Encoding Steroidogenic Factor 1 in 77 Patients with 46, XY Disorders of Sex Development (DSD) Including Hypospadias

BACKGROUND: Mutations of the NR5A1 gene encoding steroidogenic factor-1 have been reported in association with a wide spectrum of 46,XY DSD (Disorder of Sex Development) phenotypes including severe forms of hypospadias. METHODOLOGY/PRINCIPAL FINDINGS: We evaluated the frequency of NR5A1 gene mutations in a large series of patients presenting with 46,XY DSD and hypospadias. Based on their clinical presentation 77 patients were classified either as complete or partial gonadal dysgenesis (uterus seen at genitography and/or surgery, n = 11), ambiguous external genitalia without uterus (n = 33) or hypospadias (n = 33). We identified heterozygous NR5A1 mutations in 4 cases of ambiguous external genitalia without uterus (12.1%; p.Trp279Arg, pArg39Pro, c.390delG, c140_141insCACG) and a de novo missense mutation in one case with distal hypospadias (3%; p.Arg313Cys). Mutant proteins showed reduced transactivation activity and mutants p.Arg39Pro and p.Arg313Cys did not synergize with the GATA4 cofactor to stimulate reporter gene activity, although they retained their ability to physically interact with the GATA4 protein. CONCLUSIONS/SIGNIFICANCE: Mutations in NR5A1 were observed in 5/77 (6.5%) cases of 46,XY DSD including hypospadias. Excluding the cases of 46,XY gonadal dysgenesis the incidence of NR5A1 mutations was 5/66 (7.6%). An individual with isolated distal hypopadias carried a de novo heterozygous missense mutation, thus extending the range of phenotypes associated with NR5A1 mutations and suggesting that this group of patients should be screened for NR5A1 mutations

What makes the bladder neck sling procedure a success in a selected population of children and adolescents ? A STROBE-compliant investigation

Introduction: Achievement of continence in children suffering from neurogenic bladder dysfunction or severe urogenital malformation is of fundamental importance to the wellbeing of affected children and their families. A valid approach to treating incontinence with hypoactive sphincter is the placement of a bladder neck sling thus increasing outlet resistance of the bladder. Objectives: In this retrospective study in children and adolescents, we aimed to assess the outcome of bladder neck sling procedures conducted at our institution. In addition, we aimed to identify predictors of the successful correction of incontinence. Patients and methods: We treated 36 patients (25 girls, 11 boys, aged 5.0-19.7 years). In total, 32 (88.9%) patients suffered from neurogenic incontinence. Overall, 16 patients had previously received unsuccessful injection of bulking agent into the bladder neck. For the bladder neck sling, we used a fascial strip of rectus abdominis muscle (n = 29), detrusor muscle (n = 6), or combined fascial and detrusor strip (n = 1). In 8 (22.2%) patients, the surgical procedure involved wrapping the strip around the bladder neck, while in 6 (16.7%) patients, the bladder neck was suspended with the sling. In 22 (61.1%) patients, the two techniques were combined. Overall, 22 (61.1%) and 9 (25.0%) patients additionally underwent enterocystoplasty or detrusorotomy, respectively. We assessed urinary continence of our patients after 3-6 months (first evaluation) and ≥12 months (final evaluation). We classified the state of continence as 'dry' (dry for &gt;3 h between catheterizations and dry at night), 'significantly improved' (minimal incontinence, no more than one protective pad per day, interval of at least 3 h between catheterizations, dry at night, and no demand for additional treatment), or 'wet'. Bladder neck sling treatment was considered successful if the patient was rated as 'dry' or 'significantly improved'. Results: At the first evaluation, the bladder neck sling procedure proved successful in 19 (52.8%) patients. Enterocystoplasty significantly increased the success rate compared to detrusorotomy or no bladder augmentation (68.1% vs. 28.6%; p = 0.04). The remaining 17 patients who were still classified as wet after bladder neck sling placement subsequently underwent one or more additional interventions, i.e. implant injection (n = 11), bladder augmentation (n = 10), and/or sling replacement (n = 5). At the final evaluation after a median follow-up of 64.5 months (range, 12-181 months), continence without sling replacement was achieved in 29 (80.6%) of the 36 patients. Conclusion: In our study population, bladder neck sling placement achieved good results in the treatment of severe organic urinary incontinence with hypoactive sphincter. To optimize treatment outcome, bladder neck sling placement should be combined with enterocystoplasty.</p

Clinical, biological and genetic analysis of anorchia in 26 boys.

BACKGROUND: Anorchia is defined as the absence of testes in a 46,XY individual with a male phenotype. The cause is unknown. METHODS: We evaluated the clinical and biological presentation, and family histories of 26 boys with anorchia, and sequenced their SRY, NR5A1, INSL3, MAMLD1 genes and the T222P variant for LGR8. RESULTS: No patient had any associated congenital anomaly. At birth, testes were palpable bilaterally or unilaterally in 13 cases and not in 7; one patient presented with bilateral testicular torsion immediately after birth. The basal plasma concentrations of anti-Müllerian hormone (AMH, n = 15), inhibin B (n = 7) and testosterone (n = 19) were very low or undetectable in all the patients evaluated, as were the increases in testosterone after human chorionic gonadotropin (hCG, n = 12). The basal plasma concentrations of follicle stimulating hormone (FSH) were increased in 20/25, as was that of luteinising hormone in 10/22 cases. Family members of 7/26 cases had histories of primary ovarian failure in the mother (n = 2), or sister 46,XX, together with fetal malformations of the only boy with microphallus and secondary foot edema (n = 1), secondary infertility in the father (n = 2), or cryptorchidism in first cousins (n = 2). The sequences of all the genes studied were normal. CONCLUSION: Undetectable plasma concentrations of AMH and inhibin B and an elevated plasma FSH, together with 46,XY complement are sufficient for diagnosis of anorchia. The hCG test is unnecessary. NR5A1 and other genes implicated in gonadal development and testicle descent were not mutated, which suggests that other genes involved in these developments contribute to the phenotypes

Ultrasound screening of asymptomatic siblings of children with vesicoureteral reflux: A long-term followup study

Purpose: Siblings of patients with vesicoureteral reflux (VUR) are at greater risk of having reflux than the general population, and the role of screening in this group is widely accepted. While voiding cystourethrogram (VCUG) is the gold standard for diagnosis of VUR, ultrasound (US) is often used for screening select patients. We examine the outcomes of a conventional US screening program in older asymptomatic siblings. Materials and Methods: Between 1984 and 2003 asymptomatic siblings older than 5 years as well as children whose parents refused VCUG were screened with conventional US and urine studies. If US showed a discrepancy in renal size, renal scarring or hydronephrosis, or a change in the size of the renal pelvis during the study, then VCUG was performed. Additionally, any child with a normal US who subsequently had symptoms of urinary tract infection was then referred for VCUG. Chart review was performed and 117 siblings were identified who met these criteria (age range 2 months to 15 years). An attempt was made to contact all 117 siblings to obtain long-term followup data. Results: Of the 117 siblings 11 (9.4%) were referred for VCUG secondary to abnormal US findings (9) and development of urinary tract infection (2). VCUG was negative in the 2 symptomatic children, while 5 of the 9 (55.6%) with abnormal US were found to have VUR. Telephone contact was established with 85 of the 117 (72.6%) siblings or their parents (average followup 8.3 years, range 2 months to 19 years). All 85 siblings with available followup information had normal US, and none had had symptoms or complications of VUR since screening. Conclusions: Given the lower incidence and seemingly innocuous nature of VUR in older asymptomatic siblings of known patients with reflux, observation alone in this group is an acceptable form of management. If either parental or physician anxiety exists in this approach, then conventional US offers a reliable alternative to invasive VCUG screening in this population. Copyright © 2005 by American Urological Association