Different Clinical Manifestations Related to Subvirilization in Three XY Patients With the Same Pathogenic Variant of Steroidogenic Factor 1.

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 Müllerian 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 Müllerian 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.

Urology mythbusters: do we need to surgically correct vesicoureteral reflux in older girls to prevent problems in future pregnancy? (revision 1).

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."

Primary obstructive megaureter: cutting balloon endo-ureterotomy.

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.

Voluminous "cobra-head" stone in a duplex system ureterocele: combined cysto-ureteroscopic and percutaneous cystolithotomy approach.

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.

Current practice in feminizing surgery for congenital adrenal hyperplasia; a specialist survey.

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.

Current practice in paediatric hypospadias surgery; a specialist survey.

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.

Reduced bacterial colonisation of the glans penis after male circumcision in children--a prospective study.

OBJECTIVE: The aim of this prospective study was to evaluate the effect of male circumcision on the bacterial colonisation of the glans penis in children. PATIENTS AND METHODS: 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. RESULTS: 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. CONCLUSION: Male circumcision significantly reduces the bacterial colonisation of the glans penis with regard to both non-uropathogenic and uropathogenic bacteria.

Surgical technique: utriculus masculinum excision by a laparoscopic-cystoscopic approach.

OBJECTIVE: A utriculus masculinum is encountered in 12% of hypospadias. However, patients rarely present with symptoms, such as post-void incontinence or infection. We describe a combined laparoscopic-cystoscopic approach to overcome the challenge posed by the location of the utriculus deep within the pelvis and to accurately identify the confluence of the utriculus with the urethra. METHODS: A 12-year-old boy with Williams syndrome and previous hypospadias surgery presented with new-onset progressive day-time incontinence. Investigations (cystoscopy, urodynamics, MCUG) demonstrated a normal caliber urethra and the incontinence to result from a large utriculus masculinum. This video demonstrates the surgical technique: simultaneous utriculoscopy enabled the dome of the utriculus to be identified, laparoscopic dissection to progress under guidance of transillumination, and the urethral-utricular convergence to be clarified. RESULTS: Histology demonstrated an inflamed utriculus with squamous metaplasia and cystitis glandularis. Symptoms resolved post-operatively and at 4 months follow-up, the patient remains dry by day. CONCLUSIONS: A utriculus masculinum rarely requires excision. A combined laparoscopic-cystoscopic approach facilitates the delineation of the utriculus and allows its confluence to the urethra to be accurately determined.

Incidence of Deflux® calcification masquerading as distal ureteric calculi on ultrasound.

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%.

Granular cell tumor mimicking a subglottic hemangioma.

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.

[Endoscopic argon plasma coagulation in recurrent tracheoesophageal fistula. Clinical series and review of the literature]. / Tratamiento endoscópico con argón plasma en fístula traqueoesofágica recurrente. Serie clínica y revisión de la literatura médica.

INTRODUCTION: 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%. PURPOSE: To evaluate a new endoscopic treatment for RTEF with argon plasma coagulation (APC). METHODS: 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. RESULTS: 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. CONCLUSION: 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.

Tratamiento endoscópico con argón plasma en fístula traqueoesofágica recurrente. Serie clínica y revisión de la literatura médica / Endoscopic argon plasma coagulation in recurrent tracheoesophageal fistula. Clinical series and review of the literature

IntroducciónLa fístula traqueoesofágica recurrente (FTER) es una complicación que ocurre en un 5–15% de los pacientes operados por atresia esofágica. Clínicamente se presenta con dificultad respiratoria durante la alimentación, neumonía recurrente y retardo del crecimiento. El tratamiento es quirúrgico. Sin embargo, desde 1980 se ha implementado la vía endoscópica como alternativa para resolver este proceso patológico. Se han utilizado distintas técnicas con una tasa de éxito de un 63%.ObjetivoEvaluar el uso de una nueva modalidad de tratamiento endoscópico de FTER mediante termocoagulación con plasma de argón (APC).MétodosSe incluye a 6 pacientes con FTER tratados por vía endoscópica con un nuevo tratamiento mediante APC en la Clínica Alemana de Santiago entre los años 2003 y 2007. Además, se realizó una búsqueda bibliográfica sistemática que concluyó en 19 artículos y un total de 77 pacientes tratados por vía endoscópica.ResultadosEl tratamiento fue exitoso en el 66% de los pacientes en un seguimiento alejado más de 12 meses de la corrección endoscópica. Los pacientes requirieron, en promedio, 2 aplicaciones de APC. Esta respuesta es similar a los resultados de las series publicadas.ConclusionesEl tratamiento endoscópico con APC para FTER parece ser una herramienta útil y de fácil aplicación. Dada la complejidad de la resolución quirúrgica, el tratamiento endoscópico está recomendado como aproximación inicial en los pacientes con FTER(AU)

IntroductionRecurrent 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%.PurposeTo evaluate a new endoscopic treatment for RTEF with argon plasma coagulation (APC).MethodsSix 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.ResultsTreatment 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.ConclusionEndoscopic 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(AU)