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Undescended testis (UDT) is defined as failure of a testis to descend into the scrotum and it is a common reason for consultation in pediatric urology. As extensively discussed in "The undescended testis in children and adolescents: part 1", the failure of a testis to descend alters testicular germ-cells development, increasing the risk of infertility and testicular cancer in adulthood. Here, we present the second part of our review and analysis of this topic with the aim to propose an updated and well-informed approach to UDT together with a treatment flow chart that may be useful to guide pediatric surgeons and urologists in the care of these patients. The main goal of the management of patients with UDT is to diminish the risk of infertility and tumor development and is based on the clinical findings at the time of diagnosis.

Undescended testis (UDT) is defined as failure of a testis to descend into the scrotum. It is one of the most common reasons for consultation in pediatric surgery and urology with an incidence of 3% in live-born male infants. Decades ago, classical studies established that the failure of a testis to descend alters the development of its germ cells increasing the risk of infertility and testicular cancer in adulthood. More recent publications have rebutted some of the myths and raised controversies regarding the management of these patients, which, far from being limited to surgical treatment, should include pathophysiological and prognostic aspects for a comprehensive approach to the condition. Therefore, here we present an updated review divided into two parts: the first assessing the pathophysiological aspects and risks of these patients focused on fertility and cancer, and the second addressing the different treatment options for UDT.

Objective During the prenatal period, steroidogenic factor 1 is required for the development of the adrenal glands and for gonadal determination and differentiation, and after birth, it regulates gonadal progenitor cell formation and their survival. Here, we describe the clinical phenotype of three 46,XY patients (2 brothers and an unrelated subject) with disorder of sex development due to the same genetic variant. Methods All patients underwent hormonal and pelvic ultrasound studies. Sequence analysis and deletion/duplication testing of a panel encompassing 8 genes (AR, DHH, MAP3K1, NROB1, SRD5A2, SRY, WT1, and nuclear receptor subfamily 5, group A, member 1 [NR5A1]) were performed in the index cases. All family members were tested for the presence of the NR5A1 variant. Results A variant previously described as likely pathogenic in NR5A1 (c.251G>A, p.Arg84His) that segregated in 1 family with different degrees of under-virilization was found. The family 1 index case (IV2) and his brother (IV3) had an external masculinization scale score of 5/12, but only the index case had Mullerian remnants; however, the family 2 patient had a milder score of 9/12. The older female relatives of family 1 who harbor this variant experienced premature menopause. Conclusion To our knowledge, this is the first report where the c.251G>A (p.Arg84His) variant is associated with the presence of Mullerian remnants in 46,XY subjects and primary ovarian insufficiency in 46,XX individuals. The segregation of this variant with clinical manifestations provides further evidence for considering it as pathogenic.

Inverted urothelial papilloma is a very rare neoplasm in the pediatric population. Because of the low incidence of cases and the reports of atypical components, the management and follow-up plan is not standardized.To report a case of inverted papilloma in a female adolescent and to review the diagnostic approach, management, and follow-up plan for this entity.We reported a case of inverted papilloma as an incidental finding of a polypoid lesion on bladder ultrasound in a 13-year-old adolescent. Endoscopic resection was performed, and the histopathological analysis was compatible with inverted urothelial papilloma. The patient remains asymptomatic, with no evidence of recurrence after 3 years of ultrasound follow-up.This case supports the benign beha vior of inverted papilloma, highlighting the importance of a correct histopathological diagnosis for the decision to carry out a non-invasive ultrasound follow-up.

El papiloma urotelial invertido es una neoplasia vesical inusual en la población pediátrica. Debido a su baja incidencia y al reporte de componentes atípicos, no existe consenso respecto a su manejo. Objetivo: reportar una adolescente con diagnóstico de papiloma invertido, y revisar la aproximación diagnóstica, terapéutica y plan de seguimiento de esta entidad. Caso Clínico: Adolescente de 13 años con hallazgo ecográfico incidental de lesión polipoídea vesical localizada en pared póstero-inferior, durante estudio de dismenorrea. Se realizó resección cistoscópica y el informe histopatológico confir- mó un papiloma urotelial invertido. La paciente evolucionó asintomática, sin evidencia de recurren- cia tras 3 años de seguimiento ecográfico posterior a su resección. Conclusiones: El caso reportado soporta el comportamiento benigno del papiloma invertido, destacando la importancia del correcto diagnóstico histopatológico para la decisión de realizar un seguimiento no invasivo ecográfico.

Summary In this edition of Mythbusters we critically examine the premise that, because women with history of vesicoureteric reflux (VUR) are at higher risk of urinary tract infection (UTI) and other morbidity during pregnancy, persistent VUR in older girls should be considered an indication for surgical correction. The literature is very limited in that there are essentially no methodologically robust comparisons of pregnancy outcomes among women whose childhood VUR was or was not surgically repaired. Most of the case series and cohorts find relatively high incidence of UTI and pyelonephritis among pregnant women with a history of VUR, but there is very little to suggest that persistent VUR is itself a risk factor for infection during pregnancy. Indeed, some studies suggest that UTI risk is actually higher among women who previously underwent anti-reflux surgery compared to those who did not, although these data are compromised by significant selection bias. In contrast, there is relatively strong evidence that maternal and fetal morbidity is higher when the mother is known to have renal scarring; such women probably merit close surveillance during pregnancy for infection, hypertension and pre-eclampsia, and other problems. Overall, current evidence is insufficient to support routine anti-reflux surgery in girls with the sole purpose of decreasing complications during future pregnancy, particularly for girls with lower-grades of VUR and no renal scarring. The verdict for this urolegend: it contains a a “teeny, tiny nugget of truth.”

Undescended testis is the most frequent congenital genitourinary anomaly, affecting 1–2 % of boys [1]. About 20 % of them will have an impalpable testicle (IPT) [1, 2], situated intra-abdominally in nearly half. In the remainder, the testis may be absent, may have atrophied, or may be hidden in the inguinal canal or fat [2, 3]. For patients with IPT, laparoscopy is the gold standard for diagnosis, and it allows the surgical treatment to be performed in the same setting [4]. The laparoscopic surgical options for the intra-abdominal testis include single-stage orchidopexy, single-stage Fowler-Stephens procedure (FSP), and two-stage FSP. Intra-abdominal testes with sufficient vessel length may be mobilised into the scrotum in one procedure, but the gonadal vessels are too short in the vast majority of patients. In 1959, Fowler and Stephens [5] described division of the testicular vasculature to aid mobilisation, thereby leaving the testes to rely on collateral blood supply along the vas deferens. Twenty-five years later, Ransley et al. [6] advised a two-stage procedure with an interval between vessel ligation and testicular mobilisation to allow time for enhancement of the collateral blood supply along the vas deferens. Laparoscopy for division of the vessels was introduced 20 years ago, and more recently, it has been used for mobilisation during the second stage [7–9]. The FSP has been demonstrated to be an effective and safe technique with reported success rates consistently above 80 %; the complications of testicular atrophy and ascent are documented in about 10 % and 5 %, respectively. A systematic review comparing single-stage and two-stage FSP concluded that the staged approach has a higher rate of success, with better testicular viability [10]. This chapter describes the surgical technique of first- and second-stage Fowler-Stephens orchidopexy.

Aim To undertake an online survey of current hypospadias surgery practice among those specialists attending the IVth World Congress of the International Society for Hypospadias and Disorders of Sex Development (ISHID), 2011. Materials and methods An online survey covering 22 separate questions relating to proximal and distal hypospadias surgery was set up, and all delegates registered for the conference were invited to complete this questionnaire anonymously. The data was analysed by three of the authors. Results A total of 162 delegates registered for the conference of whom 74% were paediatric surgeons, paediatric urologists, plastic surgeons and adult/adolescent urologists. 93 delegates completed the online survey, and most of them (57%) were from Europe. The majority of surgeons see over 20 new patients/year (90%) and perform primary hypospadias surgery in over 20 patients/year (76%). The tubularized incised plate (TIP) repair is the most frequent technique used for the management of distal hypospadias (59%); other techniques used included Mathieu, onlay and TIP with graft. A variety of techniques are used for proximal hypospadias, but nearly half of the respondents (49%) preferred a staged approach. Self reported complication rates for distal hypospadias surgery are favourable (less than 10%) for 78% of the respondents. However, proximal hypospadias complication rates are higher. Conclusions With a majority of paediatric urologists and European delegates responding to our survey, the results suggest that there are differences in the management of proximal and distal hypospadias between surgeons, yet no differences were observed according to the region of their practice. Variations in long-term outcomes appear to be in keeping with the current literature.

Summary Introduction Bladder calculi are a known complication of bladder augmentation. Open cystolithotomy remains the preferred option for treating large or multiple stones. Increasingly, however, minimal access techniques have been used. Reports of Mitrofanoff cystolitholapaxy are rare and have been limited to adults. This study presented a two centre series of children treated by cystolitholapaxy via the Mitrofanoff/Monti channel. Materials and methods With institutional approval the current study retrospectively reviewed and identified 14 patients, on a prospective database, who underwent Mitrofanoff cystolitholapaxy to treat bladder calculi at two independent institutions in the UK and Chile between 2004 and 2016. It looked at patient demographics, surgical technique, stone clearance and recurrence, as well as leak or catheterisation difficulties of the Mitrofanoff/Monti channel post-procedure. Results Fourteen patients underwent Mitrofanoff cystolitholapaxy during the period 2004–2016. One patient was excluded due to lack of follow-up. The remaining 13 patients were aged 5–22 (median 14) years at the time of the procedure. Their underlying diagnoses were four neuropathic bladders, four bladder exstrophy, four cloacal exstrophy and one posterior urethral valve. Patients underwent augmentation cystoplasty at a median age of 5 (range 1–15) years, using ileum in 10 and sigmoid colon in three. The channel for clean intermittent catheterisation was an appendix Mitrofanoff in nine and a Monti channel in four. An Amplatz sheath was placed through the Mitrofanoff to allow safe access to the bladder for treating the stones (see Summary Table). Recurrent stones were treated using the same technique. Stone and channel outcomes were analysed for each procedure. There were 22 procedures in 13 patients; five (38%) patients had recurrent stones. Median time to recurrence was 6 months. There were no immediate complications. Stone clearance was confirmed by ultrasound and abdominal x-ray at 3–6 months after the procedure. Median follow-up was 15 (range 3–53) months. There were no leaks or difficulties catheterising the channel on follow-up. Discussion This was the first series of Mitrofanoff/Monti cystolitholapaxy for the treatment of calculi in augmented bladders of paediatric patients. Previous concerns about damaging the continence mechanism of the conduit appeared to be unwarranted. The use of an Amplatz sheath protected the continence system from repeated instrumentation, and permitted free backflow of irrigation and rapid clearance of stone fragments. Recurrence of stones occurred in 38%, which was in keeping with rates reported in the wider literature. Conclusion Mitrofanoff cystolitholapaxy was safe, and with appropriate care did not result in leakage or difficulty catheterising. Summary Table . Amplatz sheath Number No sheath 4 18 Ch 13 20 Ch 3 26 Ch 1 28 Ch 1 Fragmentation method Number Swiss Lithoclast 12 Grasper 6 Laser 1 No fragmentation (lift-out) 3 Retrieval method Number Grasping forceps 18 2.4 Ch basket 4 Operative details.

Resumen Introduccion La fistula traqueoesofagica recurrente (FTER) es una complicacion que ocurre en un 5–15% de los pacientes operados por atresia esofagica. Clinicamente se presenta con dificultad respiratoria durante la alimentacion, neumonia recurrente y retardo del crecimiento. El tratamiento es quirurgico. Sin embargo, desde 1980 se ha implementado la via endoscopica como alternativa para resolver este proceso patologico. Se han utilizado distintas tecnicas con una tasa de exito de un 63%. Objetivo Evaluar el uso de una nueva modalidad de tratamiento endoscopico de FTER mediante termocoagulacion con plasma de argon (APC). Metodos Se incluye a 6 pacientes con FTER tratados por via endoscopica con un nuevo tratamiento mediante APC en la Clinica Alemana de Santiago entre los anos 2003 y 2007. Ademas, se realizo una busqueda bibliografica sistematica que concluyo en 19 articulos y un total de 77 pacientes tratados por via endoscopica. Resultados El tratamiento fue exitoso en el 66% de los pacientes en un seguimiento alejado mas de 12 meses de la correccion endoscopica. Los pacientes requirieron, en promedio, 2 aplicaciones de APC. Esta respuesta es similar a los resultados de las series publicadas. Conclusiones El tratamiento endoscopico con APC para FTER parece ser una herramienta util y de facil aplicacion. Dada la complejidad de la resolucion quirurgica, el tratamiento endoscopico esta recomendado como aproximacion inicial en los pacientes con FTER.

Pediatric airway tumors are uncommon. A 4-year-old girl with history of stridor since the first year of life underwent rigid laryngotracheal endoscopy revealing a left posterolateral subglottic mass occluding 80% of lumen. Complete tumor resection by open approach was undertaken. Histopathologic and immunohistochemical studies revealed granular cells tumor. The similarity of the clinical and endoscopic presentation of this tumor to the much more frequent subglottic hemangioma that usually requires a different therapeutic approach was of interest. Granular cell tumor must be considered in the differential diagnosis of upper airway obstructive symptoms in infancy and childhood.

Objective In this video we will demonstrate endo-ureterotomy using a cutting balloon for vesico-ureteric junction (VUJ) dilatation and stenting of the primary obstructive megaureter. Method For the technique, a 0.014 inch guide-wire is endoscopically inserted through the VUJ and allowed to curl in the megaureter. A 3 mm atherotome-bladed cutting balloon is inflated with iohexol contrast solution. Under fluoroscopy or cystoscopically, the stenotic VUJ segment is observed to open and post-dilated with a 4 mm simple balloon before JJ stent placement for six weeks. Results This video demonstrates the equipment and technique of VUJ endo-ureterotomy using a cutting balloon and stenting of the primary obstructive megaureter. Conclusion Where intervention for the primary obstructive megaureter is indicated, we propose VUJ endo-ureterotomy as the first line treatment.

Aim To present the outcome of an online survey of the current practice in feminizing surgery for congenital adrenal hyperplasia (CAH) among the specialists attending the IVth World Congress of the International Society of Hypospadias and Disorders of the Sex Development (ISHID), 2011. Material and methods An online survey covered 13 individual questions regarding the management and surgical techniques for 46XX CAH patients. All delegates attending the conference were invited to complete this anonymous survey. The data was analysed by three of the authors. Results A total of 162 delegates had registered for the conference and 60% of them were paediatric surgeons or paediatric urologists. 65 delegates completed the online survey. Early surgery, before the age of two years, is preferred by 78% of the surgeons and most of them would include clitoroplasty, vaginoplasty and labioplasty. The most frequent surgical technique used for the clitoroplasty is the partial excision of the corpora cavernosa and the skin flap or “U flap” vaginoplasty. Routine vaginal dilatations after puberty are advocated by 28% of the delegates. More than 75% report good outcomes. Conclusions Within the limitations of the methodology of this survey, this study suggests that there is agreement in many aspects related with the surgical treatment for 46XX CAH. Self reported outcomes are satisfactory for most of the respondents.

Objective Dextranomer-hyaluronic acid (Deflux®), the most widely used compound in the endoscopic treatment of vesico-ureteric reflux (VUR) today, is believed to provoke only minimal inflammation. Reports of calcification of Deflux® are increasing. We ascertain the incidence of Deflux® calcification appearing as distal ureteric calculi on ultrasound. Methods Three cases (2 external patients) of ureteroscopy for calcified submucosal Deflux® prompted a retrospective review of the notes and imaging of all children treated with Deflux® for VUR between December 2000 and January 2011 at Great Ormond Street Hospital. Results 232 children (M:F = 5:3) received Deflux® for VUR at median age 2 years (range 2 months–12 years). Follow-up annual ultrasound, performed in all, identified calcification in 2. The interval between Deflux® injection and presentation of its calcification was 4 years. 104 of the 232 children had been followed up for 4–10 years. Considering the observed lag-period, after 4 years the incidence of calcification of Deflux® on ultrasound was 2% (2/104). Conclusions Patients should be warned that calcification of Deflux® can occur. Misinterpretation as ureteric stones is common and may lead to unnecessary ureteroscopy. In this series, the incidence of calcification of Deflux® on ultrasound after 4 years was 2%.

The aim of this prospective study was to evaluate the effect of male circumcision on the bacterial colonisation of the glans penis in children.244 males were included in this study. The study group consisted of 143 boys admitted for circumcision between August 2009 and July 2010. Periurethral swabs were taken preoperatively and one week postoperatively. The control group included 101 boys without phimosis, in which only one swab was taken. Patients were subgrouped according to age below and above five years. Bacterial cultures were analysed, results were categorized by non-uropathogenic and uropathogenic bacteria, and compared within and between groups.Patients in both control group and study group before circumcision showed significant bacterial colonisation (98%), involving known uropathogenic bacteria in over 86%. After circumcision, bacterial colonisation dropped from 100% to 86.3% (p 0.005) in boys younger than five years and from 98.57% to 77.14% (p 0.001) in those aged five or above, respectively. Moreover, the fraction of uropathogenic bacteria decreased significantly.Male circumcision significantly reduces the bacterial colonisation of the glans penis with regard to both non-uropathogenic and uropathogenic bacteria.

Recurrent tracheoesophageal fistula (RTEF) is a complication that occurs in up to 15% of patients after esophageal atresia repair. The clinical features include coughing, aspiration, recurrent pneumonia and failure to thrive. Surgical treatment is recommended. However, since 1980, the endoscopic route has been used as a therapeutic alternative. Distinct techniques have been employed with an overall success rate of 63%.To evaluate a new endoscopic treatment for RTEF with argon plasma coagulation (APC).Six patients with RTEF treated with endoscopic APC between 2003 and 2007 at a single institution (Clinica Alemana, Santiago, Chile) were included. We also performed a systematic literature search. Nineteen articles were selected, with a total of 77 patients treated through the endoscopic route.Treatment was successful in 66% of the patients with a follow-up of more than 12 months. On average, the patients required two applications of APC. This success rate was similar to that reported in published series.Endoscopic treatment with APC in RTEF seems to be useful and easily applied. Because of the complexity of surgical treatment, we recommend endoscopic treatment as the first approach in patients with RTEF.

Introducción: El pulmón esofágico es una malformación congénita muy infrecuente que se produce por una alteración en el desarrollo normal del intestino anterior. Consiste en la presencia de tejido pulmonar conectado con el esófago. Clínicamente se puede manifestar como neumonías recurrentes, dificultad respiratoria o disnea que aparece junto con la alimentación. Objetivo: Reportar el primer paciente portador de esta malformación tratado en nuestra institución. Caso Clínico: Lactante masculino, 4 meses de edad, con neumonías recurrentes del lóbulo superior derecho. El estudio con imágenes y endoscopía, confirmó la presencia de un pulmón supernumerario que estaba comunicado con el tercio medio del esófago. El paciente fue sometido a una resección quirúrgica de la malformación. Evoluciona favorablemente con mejoría de sintomatología. Conclusión: El pulmón esofágico es una malformación poco frecuente que debe ser sospechada en pacientes con sintomatología respiratoria recurrente. El estudio con imágenes y endoscopía permite precisar el diagnóstico

We report a case of a 7-year-old boy with a voluminous 8.5-cm “cobra-head” calculus in a duplex system ureterocele causing flank pain, hematuria, and infection. Combined cysto-ureteroscopy and percutaneous cystolithotomy enables dependent ureterocele incision along its inferolateral border and efficient stone clearance in a single minimally invasive procedure. Protracted and repeated urethral instrumentation is avoided.