Assessment of clinical prognosis improvement in children with concomitant anterior and posterior urethral valves: A case series report.

BACKGROUND: Concomitant anterior urethral valves (AUVs) and posterior urethral valves (PUVs) is an extremely rare congenital urologic anomaly, which may be easily overlooked in the clinic. OBJECTIVE: This study assessed the prognosis of children with concomitant PUVs and AUVs. METHODS: The clinical data of inpatients with concomitant AUVs and PUVs in our hospital were collected from January 1983 to June 2022. The clinical manifestations, auxiliary inspection, and treatment were described in detail. RESULTS: In total, 6 cases of concomitant AUVs and PUVs in boys were found in our hospital, with ages ranging from 3 months to 9 years; the main clinical manifestation was abnormal urination. Four patients exhibited concomitant AUVs and PUVs preoperatively and underwent simultaneous anterior and posterior urethral valvotomy. Follow-up studies showed that 3 patients' clinical symptoms substantially improved with well-maintained renal function. One patient died of renal failure. In the other 2 patients, PUVs were initially identified and excised, but their clinical symptoms did not show substantial improvement. Following voiding cystourethrography (VCUG), the AUVs were found and obstructions were then completely relieved. However, 2 patients died of renal failure. CONCLUSIONS: If urinary symptoms cannot be substantially relieved after posterior urethral valvotomy, VCUG and cystoscopy should be repeated to shorten the interval between anterior and posterior urethral valvotomies to improve patient prognosis.

Posterior urethral valve in thai boys.

BACKGROUND: Posterior urethral valve (PUV) is the most common congenital bladder outlet obstruction in boys, causing renal damage beginning in utero. There are scarce data from Thailand regarding the long-term outcomes of PUV in boys, thus the aim of this study was to examine the presentation, clinical course, complications, outcomes and renal survival in PUV boys. METHODS: We reviewed the medical records of PUV boys treated at the Pediatric Nephrology Clinic, Prince of Songkla University, Thailand, over a 30-year-period. RESULTS: Seventy-seven PUV boys were identified, with a median age at diagnosis of 4.8 months. The most common presentations were urinary tract infection (UTI), poor urine stream and urinary dribbling in 26 (33.8%), 19 (24.7%) and 11 (14.3%) boys, respectively. Renal ultrasound results in 70 boys showed 8 (11.4%) unilateral and 56 (80%) bilateral hydronephroses. Of 72 voiding cystourethrograms, 18 (25.0%) showed unilateral and 22 (30.6%) bilateral vesicoureteral refluxes. 99mTc dimercaptosuccinic acid renal scans in 30 boys showed 12 (40%) unilateral and 8 (26.7%) bilateral renal damage. Fifty-nine (76.6%) boys had 149 UTIs; 42 (54.4%) had recurrent UTI. Forty-eight boys had valve ablation at the median age of 30.3 months. 22 boys (28.6%) developed chronic kidney disease (CKD) at a median age of 15.0 years. CONCLUSION: Of 77 PUV Thai boys, UTI was the most common presentation. Recurrence of UTI and CKD was the most common consequence. Lifelong follow-up for renal and bladder functions is essential for all PUV patients.

Partial urogenital mobilization in cloacal malformation: is it a viable option?

INTRODUCTION: Total Urogenital Mobilization (TUM) has been the standard surgical approach for the urogenital complex in Cloacal Malformations (CM) since its inception in 1997. Partial Urogenital Mobilization (PUM) in CM remains an under-utilized or under-reported option. The main anatomical difference between TUM and PUM is the division of the pubo-urethral ligaments. OBJECTIVE: We explored the feasibility of PUM in a select subset of our patients with CM and report early outcomes. STUDY DESIGN: We retrospectively reviewed prospectively collected data of all our CM patients who had primary reconstruction at our centre from 2012 to 2020. We included in our review the patients who underwent PUM. Mullerian abnormalities, spinal cord involvement, common channel length (CC), urethral length (UL), surgical reconstruction, and outcomes including urinary continence, recurrent UTI, ultrasound and preoperative DMSA/MAG3, cystovaginoscopy post-reconstruction, and post-void residuals were noted. RESULTS: Fifty-three patients had primary reconstruction, and of these, eleven had a common channel less than 3 cm. Of the eleven, only one underwent TUM. In the PUM group, two underwent filum untethering (20%). Mullerian duplication was noted in 5 patients (50%). The median CC length = 1.6 cm (range = 1.5cm-2.7 cm), and median UL = 1.5 cm (range = 1.5cm-2.5 cm). Follow-up ranged from 9 to 134months (median = 63months). Post-reconstruction all had a separate urethral and vaginal opening on examination and cysto-vaginoscopy. The continence outcomes are summarized in Fig.1. DISCUSSION: Although TUM is the most common solution for the urogenital complex in CM, a subset would be suitable for PUM, and this option is under-utilized or under-reported in literature. We presume that many who had TUM probably only needed a PUM, and therefore could report better outcomes from a bladder function aspect. It is important to differentiate the two, and outcomes should be appropriately categorized. Our default approach is a PUM in all CM with less than 3 cm common channel. Only the lateral and posterior aspects of the urogenital complex are mobilized and if the urethra did not reach a satisfactory level for easy intermittent catheterization, then we proceed to a TUM dividing the pubo-urethral ligaments. PUM avoids the potential complications related to dividing the pubo-urethral ligament in TUM. It may also avoid the need for CIC which is encountered in patients who undergo TUM. CONCLUSION: PUM is a viable alternative in cloacal malformations with good outcomes in those with a common channel under 3 cm. This of course requires appropriate patient selection and accurate categorization of interventions to understand the true outcomes.

Comprehensive multidisciplinary phenotyping of patients with hypospadias. A pilot study.

INTRODUCTION: Hypospadias is an abnormal formation of the urethra, ventral skin, and corporal bodies. Location of the urethral meatus has historically been the phenotypic landmark that defines hypospadias. Nonetheless, classifications following location of the urethral meatus fail to consistently predict outcomes and have no correlation with the genotype. Description of the urethral plate is very subjective and difficult to reproduce. We hypothesize that the use of digital pixel cluster analysis and correlation to histological analysis can provide a novel method to describe the phenotype of patients with hypospadias. METHODS: A standardized hypospadias phenotyping protocol was developed. 1. Digital images of the anomaly, 2. Anthropometric assessment of penile dimensions (penile length, urethral plate length and width, glans width, ventral curvature), 3. Classification using the GMS score, 4. Tissue sampling (foreskin, glans, urethral plate, periurethral ventral skin) and H&E analysis by a blinded pathologist. A k-means colorimetric pixel cluster analysis was performed following the same anatomical landmark distribution as the histology samples. Analysis was performed using MATLAB v R2021b 9.11.0.1769968. RESULTS: A total of 24 patients prospectively enrolled with a standard protocol. Mean age at surgery was 16.25 months Urethral meatus was distal shaft in 7 patients, 8 coronal, 4 glanular, 3 midshaft, 2 penoscrotal. Average GMS score was 7.14 (±1.58). Average glans size was 15.71 mm (±2.33) and urethral plate width 5.57 mm (±2.06). Eleven patients underwent Thiersch-Duplay repair, 7 TIP, 5 MAGPI, and 1 a first stage preputial flap. Mean follow-up was 14.25 months ( ± 3.7 months). Two (8.3%) postoperative complications (1 urethrocutaneous fistula and 1 ventral skin wound dehiscence) were reported in the study period. Eleven (52.3%) patients with histological analysis had an abnormal pathology report. Of those, 6 (54%) had reported abnormal lymphocyte infiltration interpreted as chronic inflammation at the urethral plate. The second most common finding was hyperkeratosis visualized in the urethral plate in 4 (36.3%) and one with reported fibrosis in the urethral plate. K-means pixel analysis demonstrated a k1 mean of 64.2 for reported urethral plate inflammation vs 53.1 for non-reported urethral plate inflammation (p = 0.002) CONCLUSIONS: Current phenotyping of hypospadias using only anthropometric variables can be expanded including histological and pixel analysis correlation. Pixel clustering has a potential for a priori prediction of urethral plate quality beyond the current subjective assessment. A larger cohort will allow identification of possible predictive associations that might impact intraoperative decision-making and surgical outcomes.

[Anthropometric assessment on prepubertal boys with hypospadias: a multicenter case series].

Objective: Anthropometric variants in prepubertal boys with hypospadias were assigned and assessed to illustrate anatomical malformation. Methods: A total of 516 prepubertal (Tanner grade Ⅰ) boys with hypospadias who were admitted to three medical centers between March 2021 and December 2021 and met the selection criteria for primary surgery were selected. The age of the boys ranged from 10 to 111 months, with an average of 32.6 months. Hypospadias were classified according to the location of the urethral defect, 47 cases (9.11%) of the distal type (the urethral defect is in the coronal groove or beyond), 208 cases (40.31%) of the middle type (the urethral defect is in the penis body), and 261 cases (50.58%) of the proximal type (the urethral defect is at the junction or proximal side of the penis and scrotum). The following indexes were measured: penis length before and immediately after operation, reconstructed urethral length, and total urethral length. Morphological indicators of the glans area, including preoperative height and width of glans, AB, BC, AE, AD, effective AD, CC, BB, the urethral plate width of the coronal sulcus, and postoperative height and width of glans, AB, BE, and AD. In which point A is the distal endpoint of navicular groove, point B is the protuberance lateral to the navicular groove, point C is the ventrolateral protuberance of the glans corona, point D is the dorsal midline point of the glans corona, and point E is the ventral midline point of the coronal sulcus. The foreskin morphological indicators, including the foreskin width, inner foreskin length, and outer foreskin length. The scrotal morphological indicators, including the left, right, and front penile to scrotum distance. The anogenital distances, including anoscrotal distance 1 (ASD1), ASD2, anogenital distance 1 (AGD1), and AGD2. Results: The penis length of the distal, middle, and proximal types decreased successively before operation, the reconstructed urethral length increased successively and the total urethral length decreased successively, these differences were all significant ( P<0.05). The height and width of the glans of the distal, middle, and proximal types significantly decreased successively ( P<0.05), but the height/width of the glans was generally close; AB value, AD value, and effective AD value significantly decreased successively ( P<0.05); there was no significant difference in BB value, urethral plate width of the coronary sulcus, and (AB+BC)/AD value between the groups ( P>0.05). There was no significant difference in the width of glans between the groups after operation ( P>0.05); AB value and AB/BE value increased successively, and AD value decreased successively, these differences were all significant ( P<0.05). The inner foreskin length in the 3 groups significantly decreased successively ( P<0.05), while the outer foreskin length had no significant difference ( P>0.05). The left penile to scrotum distance of middle, distal, and proximal types significantly increased successively ( P<0.05). ASD1, AGD1, and AGD2 significantly decreased from distal type to proximal type successively ( P<0.05). The other indicators' differences were significant only between some groups ( P<0.05). Conclusion: The anatomic abnormalities of hypospadias can be described by anthropometric indicators, which can be used as the basis for further standardized surgical guidance.

Congenital anterior urethral valves and diverticula.

AIMS OF STUDY: Anterior urethral valves (AUVs) are rare congenital anomalies causing lower urinary tract obstruction in children. The present study highlights the clinical approach in identifying the condition and its treatment options. METHOD: Single centre, retrospective study of children. RESULT: Over a 16 year duration, 14 children were diagnosed with AUVs and diverticula with a mean age of 15 months. Clinical features included straining at micturation and a palpable penile swelling. Diagnosis was confirmed with voiding cystourethrogram and cystoscopy. An open surgical procedure was performed in 12 cases and endoscopic intervention done in one. On follow up 13 patients showed restoration of a normal voiding stream and normal renal function. One child died of chronic renal failure due to a delayed presentation, severe back-pressure changes, urinary ascites, and urosepsis. One patient developed a small urethrocutaneous fistula that healed spontaneously. CONCLUSION: AUV, though rare, should be recognizable due to the combination of a poor urinary stream and visible swelling in the ventral aspect of penis. Open surgical excision is the method of choice, and the outcome is excellent. LEVEL OF EVIDENCE: Level IV.

Quantification of the Androgen and Estrogen Receptors in the Penile Tissues of Hypospadias in Comparison with Normal Children.

INTRODUCTION: Hypospadias is a common congenital abnormality typified by a proximally placed ectopic urethral meatus along the ventral surface of the penis. Androgen receptor (AR) and estrogen receptor (ER) expression in the hypospadias tissues may be altered in hypospadias. METHODOLOGY: We evaluated by immunohistochemistry the AR and ER expression in 75 tissues from hypospadias repair, and compared this expression to that of tissue from 75 patients undergoing circumcision. We also compared the intensity of AR and ER expression between different severities of hypospadias. RESULTS: AR quantitative grading score decreased with severity of hypospadias, while the ER score increased as the hypospadias worsened, which was statistically significant (p-value <0.05). CONCLUSION: The penile tissue AR expression is decreased and ER expression is increased with increasing severity of hypospadias.

The Pseudo-Bladder: A Case of the Prostatic Urethra Masquerading as the Bladder.

Congenital bladder underdevelopment has detrimental genitourinary effects. We present a male infant with declining renal function, recurrent urinary tract infections, and epididymo-orchitis, in the setting of bilateral high grade hydronephrosis and vesicoureteral reflux. Cystoscopic evaluation revealed the presumed "bladder" to be a massively dilated prostatic urethra. The small dysplastic "true bladder" was found at the anterior surface of the prostatic urethra with massively dilated ureteral orifices. Temporizing diversion was performed in the form of bilateral cutaneous ureterostomies, with an ultimate plan for reconstructive bladder surgery. This case presents diagnostic challenges utilizing current modalities due to a massively dilated prostatic urethra in the rare case of bladder dysplasia.

Prenatal diagnosis of congenital megalourethra: case report and literature review.

BACKGROUND: Congenital megalourethra is an uncommon cause of lower urinary tract obstruction that is rarely prenatally diagnosed in second trimester sonographic examination as a cystic genital mass. CASE: In the presented case, the megalourethra was accompanied with bilateral mild pelviectasis. The newborn had no morbidity during follow-up period. To review the literature, electronic databases including PubMed, Web of Science and Google Scholar were searched up to February 15, 2021. In 51 prenatally diagnosed cases in the literature, most of the cases had accompanying congenital anomalies, especially structural abnormalities in the genitourinary. CONCLUSIONS: In the absence of associated abnormalities, the condition of the upper urinary tract is the main determinant of postnatal outcome. The outcome of congenital megalourethra may be good as in our case, but there may also be serious disorders such as renal failure, pulmonary hypoplasia, erectile dysfunction and fertility issues.

Urethral duplication as cause of incontinence in a 5-years-old female: Surgical approach.

INTRODUCTION: Duplication of the urethra is a rare congenital anomaly in females which, if left unidentified, might cause refractory urinary incontinence. This video demonstrates its identification and treatment. PATIENT & METHODS: A 5-year-old female was referred for primary refractory diurnal incontinence without any dry moment since birth. Initial clinical examination showed permanent urine leakage from an opening cranial to the clitoris. Ultrasound did not show any bladder or kidney abnormalities. A diagnostic cystoscopy under anesthesia revealed an accessory meatus located cranially to the orthotopic meatus and to the clitoris. RESULTS: Lying in dorsal decubitus under general anesthesia, catheters were inserted in respectively the orthotopic and accessory meatus. The accessory meatus and urethra were dissected away into the bladder dome from a circumferential skin incision. Defects were closed and bladder drainage per urethram was left in situ for 10 days. P ostoperative recovery was uncomplicated. Complete resolution of the incontinence was immediately achieved at catheter removal. Daytime and night-time continence are observed with 3 years follow-up. CONCLUSION: Urethral duplication is a rare finding in females but should be excluded during the workup of primary incontinence. In girls with isolated urethral duplication, resection of the accessory urethra is the best surgical option.

Congenital anterior urethral valves and diverticulum: A case series and association with posterior urethral valves.

INTRODUCTION: There is limited data regarding long-term results and associated complications in patients with anterior urethral valve (AUV) and diverticulum (AUD). We retrospectively reviewed AUV/AUD cases managed by us between the year 2002-2020. MATERIAL AND METHODS: Presentation, investigations, management, concomitant posterior urethral valves (PUV) and pre-operative characteristics predisposing to long-term poor renal outcome were assessed. RESULTS: There were 27 patients [AUV (n = 11); AUD (n = 16)] with 5 having concomitant PUV. All presented with poor urinary stream and dribbling at a median age of 1-year (5 days-12 years). More patients with AUD (9 of 16, 56.3%) especially with concomitant PUV presented at ≤1-year-age as compared to those with AUV (4 of 11, 36.4%). Concomitant PUV and AUD cases (n = 3) had characteristic micturating cystourethrography (MCUG) features. (Fig. 1A) Retrograde urethrography delineated the valve and distal urethra dimensions better (Fig. 1B, C). Urethral hypoplasia distal to the valve (n = 4) urethral duplication (n = 1) were associated (Fig. 1D). Syringocele was ruled out in proximal AUD by absence of filling defect on MCUG and appearance of urethral walls on urethrocystoscopy. Serum creatinine > 1 mg/dL (n = 5), trabeculated bladder (n = 12), and vesicoureteral reflux (VUR) (n = 12) was noted at presentation. Diverticulum/valve excision (n = 13, 48.2%), fulguration alone (n = 12, 44.4%) and primary urinary diversion (n = 2, 7.4%) were performed. Follow up (range:3 mo-19 years), showed deranged renal function tests (n = 6), VUR (n = 4), impaired renal function on scans (n = 8), and lower urinary tract dysfunction (n = 7). Outcome with and without associated PUV was similar. Long term results were better in AUV compared to AUD. Pre-operative raised serum creatinine (>1 mg/dL), trabeculated bladder, non-dilated posterior urethra on MCUG and bilateral impaired renal function on scans had significant association with follow up eGFR less than 60 ml/kg/min. CONCLUSIONS: Co-existing PUV and AUD present earlier and have specific imaging findings. In proximal AUD, possibility of syringocele should be kept in mind, as they have similar presentation and imaging. Concomitant PUV did not alter prognosis. Secondary effects on bladder and renal function were more with AUD. Follow up eGFR less than 60 ml/kg/min was associated with pre-operative elevated serum creatinine, trabeculated bladder, non-dilated posterior urethra, and bilateral impaired renal function on scans.

Missed urethral duplication associated with hypospadias, post-hypospadias repair urethral stenosis, and recurrent urinary tract infections in an adult: a case report.

BACKGROUND: Duplication of urethra is a very rare congenital disorder. Several types of this anomaly have been reported around the world, and are also discussed in this report. However, the mechanism of this anomaly is still unclear. CASE: A 45-year-old Persian man with a complaint of recurrent urinary tract infection was referred to our clinic. He had a history of repairing penoscrotal hypospadias in childhood along with obstructive and irritating symptoms in adolescence. On his last voiding cystourethrogram and retrograde urethrogram, stenosis was observed in the proximal bulbar urethra along with a double urethra in the dorsal region of the main urethra. The double urethra was removed with operation, and he was followed for 1 month after surgery. He had no complaints of recurrence or urinary incontinence. CONCLUSIONS: This report shows the different classification systems, types of double urethra, and approach and management, which mainly involves surgery; however, surgical management should be done according to the anatomical findings of the abnormality.

Clinical Profiles and Surgical Outcome of Hypospadias Repair at a Teaching Hospital in Ethiopia.

Background: Hypospadias repair is one of the commonest and challenging surgery done in pediatric age groups. This study was conducted to assess clinical profiles and surgical outcomes of hypospadias repair. Methods: A retrospective analysis of pediatric hypospadias repairs at St. Paul's hospital millennium medical college from September 2015 to August 2019 was conducted. Results: A total of 277 patients with hypospadias repair were investigated. The mean age was 3.7+/- 3.5 years (Range, 0.5-14 years) and only one-third (98,35.4%%) of patients were operated on in the recommended age group (6-18 months). Anterior/distal hypospadias was the commonest (123,44.4%) variant identified. The majority (176,63.5%) had chordee and 105(37.9%) were severe forms. Tubularized incised plate repair was the major (164,59.2%) surgical technique employed followed by staged urethroplasty (61,22%). Post-operative complications occurred in 135(48.7%) patients and the commonest was urethrocutanous fistula (95,34.3%). No significant correlation was found between the occurrence of these complications and factors such as age at repair, the severity of hypospadias, presence of concomitant urogenital anomaly, type of procedure and duration of urinary diversion. However, the presence of severe chordee (AOR=3.09; 95%CI 1.21-7.54; p=0.013) was an independent factor found to be associated with postoperative complications on multivariate analysis. Conclusion: Higher rate of complications following hypospadias repair was observed in our study. Our study also demonstrated no significant advantage of any repair technique in reducing operative complications. Extensive preoperative evaluation, proper operative plan and regular follow-up of such patients is paramount for a better outcome.

Caudal duplication syndrome: 10-year experiences with a comprehensive literature review.

PURPOSE: Caudal duplication syndrome (CDS) has rarely been reported. The purpose was to describe the characteristics and discuss possible pathogenesis of CDS by reviewing our experience along with a comprehensive literature review. METHODS: A total of 51 patients including 3 from our team and 48 from literature were selected in this study. General condition, clinical manifestations, type of anomalies, treatment and prognosis was analyzed and summarized. RESULTS: Among the 51 patients were 30 females and 21 males, and age at first clinical visit was from birth to 39 years old. Except 12 patients, most of the patients had no troubling clinical manifestation. Physical examination showed that 30 patients had 1 perineum, 21 patients had 2 completely independent perineums. Degree of duplication varied; colon-rectum tubular, bladders and urethras, vaginas in females and penis shafts and glans in males were found to be the most common type of alimentary system and urogenital system duplication in this study with 24/51, 41/51, 10/30 and 16/21 patients, respectively. Anorectal malformation was calculated: 18 had 2 ARMs, 14 had 1 normal anus and 1 ARM on the other side, 12 had a normal anus, 5 had 2 normal anus, the remaining 2 patients had only 1 ARM. Spinal cord anomalies were showed as meningomyeloceles and lipomas in 13 and 3 patients. Vertebral anomalies of bifid, dysplasias, scoliosis, and hemivertebra were noticed in 28 patients and accessory dysplasia lower limbs were found in 10 patients. Prognosis showed 39 of the 51 patients had normal function in urination and defecation. CONCLUSIONS: CDS is an extremely rare disease with uncertain pathogenesis. Colon-rectum tubular duplication with two ARMs, duplicated bladders and urethras, double vaginas in females and penis shafts and glans in males are the most common type. Long-term prognosis is good with multidisciplinary, individualized and staged surgical procedures.

Concurrent Multicystic Dysplastic Kidney, Posterior Urethral Valves, and Obstructive Ureterocele in a Male Pediatric Patient: A Case Report.

Congenital anomalies of the kidney and urinary tract (CAKUT) are diagnosed in approximately 3-6 per 1000 live births and represent a spectrum of urologic conditions impacting the kidneys, ureter, bladder, and urethra.1 Although both are considered under the classification of CAKUT, there is no known unifying pathophysiologic mechanism for ureteroceles and posterior urethral valves with only 1 case report noted in the literature. Herein we report the only documented case of a patient with CAKUT related to posterior urethral valves, ureterocele, and multicystic dysplastic kidney.

The modified Belt-Fuqua procedure using an asymmetric "furisode" sleeve for proximal hypospadias with severe curvature.

INTRODUCTION AND OBJECTIVES: Proximal hypospadias repair is a challenge in the pediatric urology field. Although the previous reports showed that the Belt-Fuqua staged procedure is reliable with a low complication rate for midshaft hypospadias, this procedure has not been generally applied to more proximal hypospadias with severe ventral curvature due to technical limitations. To solve these technical limitations, we developed a modified Belt-Fuqua procedure using an asymmetric long skin sleeve looking like a Japanese long-sleeved Kimono called a "furisode". The aim of this study was to evaluate the outcomes of this new modification of the Belt-Fuqua procedure for the repair of proximal hypospadias with severe curvature in children. STUDY DESIGN: The study retrospectively reviewed consecutive patients with proximal hypospadias with severe curvature underwent this new technique. The major modifications included are proximal degloving beyond the urethral meatus, asymmetrical ventral transposition of dorsal preputial skin like a furisode sleeve, and circumferential proximal anastomosis of preputial skin to native meatus in the first stage. Hypospadias severity was evaluated objectively in two ways: preoperatively by the Glans-Urethral Meatus-Shaft score and intraoperative direct measurement of ventral curvature. The primary outcome was urethroplasty complications. RESULTS: A total of 66 patients completed both stages of the furisode technique. The median Glans-Urethral Meatus-Shaft score was 11. Overall, 60 (91%) patients showed ventral curvature greater than 60 degrees after degloving, and 35 (53%) underwent ventral grafting with a dermal graft in the first stage. Median urethral length constructed at the second stage was 41.5 mm. The median follow-up period was 25 months. Complications occurred in 9 patients (14%); 7 had urethral diverticula, 1 showed a fistula and 1 had a urethral stricture. Neither glans dehiscence nor meatal stenosis occurred. DISCUSSION: There are a couple of advantages of this furisode technique to other tunneled flap techniques like the Ulaanbaatar procedure. The first is the ease of glans reshaping with a Firlit collar at the first stage because of no urethra in the glans. The second is that a long neourethra could be made by the same skin flap with one anastomosis to the native urethra.The weakness of this procedure was that urethral diverticula were prone to occur less than one year after urethroplasty. CONCLUSION: The furisode technique, a new modification of the Belt-Fuqua procedure, provides an alternative staged repair of proximal hypospadias. This technique was easily applied for hypospadias with severe curvature requiring ventral grafting.

Tubular and glomerular biomarkers of renal tissue function in the urine of fetuses with posterior urethral valves.

INTRODUCTION: Posterior urethral valve (PUV) is a congenital malformation characterized by a membranous structure located in the prostatic portion of the male posterior urethra that obstructs the urinary flow. Efforts have been made to determine the degree of impairment of fetal kidney function in this condition. OBJECTIVE: This study aimed to measure the levels of urinary biomarkers of glomerular and tubular functions in fetuses with PUV and to compare with the levels of the same molecules in healthy male premature newborns. STUDY DESIGN: Urine samples from 43 fetuses with PUVs were collected and compared with urine samples from 40 healthy male newborns of the same gestational age (controls). Tubular and glomerular biomarkers levels were measured in urine samples by MILLIPLEX® assay kits. Levels of the molecules were related to creatinine (Cr) measurements at same urine samples and expressed as pg/mg Cr. Results were analysed with Graphpad Prism version 7.0 and SPSS version 20.0. RESULTS: Fetuses with PUV showed a significant reduction in urine levels of Epidermal Growth Factor (EGF), Calbindin, Osteoactivin, Molecule Renal Injury 1 (KIM-1 and Factor of trefoil 3 (TFF-3) when compared to controls. On the other hand, urine levels of cystatin C and renin were higher in PUV fetuses. The levels of molecules also differed according to urine osmolality and grade of hydronephrosis. DISCUSSION: Some urinary excreted molecules may indicate kidney damage in several segments along the nephron, while others may exert important functions. Mechanical and immunological mechanisms related to PUV might significantly modulate the synthesis of cytokines related to glomerular and tubular physiology, leading to alterations in urinary concentrations of those molecules. These biomarkers can be used as future diagnostic and prognostic markers in clinical practice. CONCLUSION: Early kidney structural and functional impairment influenced the synthesis of glomerular and tubular molecules related to kidney physiological processes in fetuses with PUV.

Complete diphallia: How to proceed?

INTRODUCTION: Diphallia is a rare anomaly. It has a range of appearances from a small accessory penile to complete duplication. METHODS: We present a 2 year-old boy with complete penile duplication. The left penile was the largest. NMR (Nuclear Magnetic Resonance) suggested one corporal body for each penile and VCUG (Voiding Cystourethrogram) showed a normal urethra in the right penile and stricture at glandular and mid penile urethra of the left penis. A Y confluence to bulbar urethra was observed confirming only one prostate and bladder. RESULTS: The cystoscopy through the right penile identified the urethral confluence in the bulbar area. We performed a meatotomy in the left penile to insert the cystoscope and confirmed the blind ending urethra. We decided to remove this penile. The penile was degloved entirely and clamped and took out the corpora at the base. DISCUSSION: Diphallia can have three presentations: only glans duplication, bifid diphallia and complete diphallia (two corpora cavernosa and a corpus spongiosum for each penile). In our case, each penile presented only one corpora cavernosa and the decision taken was based on urethral patency. CONCLUSION: The treatment should always be planned individually whereas associated anomalies with the goal of attaining satisfactory functional and cosmetic results.

Exon skip-inducing variants in FLNA in an attenuated form of frontometaphyseal dysplasia.

Pathogenic variation in the X-linked gene FLNA causes a wide range of human developmental phenotypes. Loss-of-function is usually male embryonic-lethal, and most commonly results in a neuronal migration disorder in affected females. Gain-of-function variants cause a spectrum of skeletal dysplasias that present with variable additional, often distinctive, soft-tissue anomalies in males and females. Here we present two, unrelated, male individuals with novel, intronic variants in FLNA that are predicted to be pathogenic. Their phenotypes are reminiscent of the gain-of-function spectrum without the skeletal manifestations. Most strikingly, they manifest urethral anomalies, cardiac malformations, and keloid scarring, all commonly encountered features of frontometaphyseal dysplasia. Both variants prevent inclusion of exon 40 into the FLNA transcript, predicting the in-frame deletion of 42 amino acids, however the abundance of FLNA protein was equivalent to that observed in healthy individuals. Loss of these 42 amino acids removes sites that mediate key FLNA functions, including binding of some ligands and phosphorylation. This phenotype further expands the spectrum of the FLNA filaminopathies.

First Case of a Term Male Born with Aphallia and Complete Urethral Atresia.

Aphallia is an exceedingly rare condition often associated with an array of genitourinary anomalies. Classically, aphallia was thought to have to co-exist with a urethral fistula for adequate urine outflow to avoid the sequelae of oligohydramnios, while the absence of a fistula has historically been incompatible with life. We report the first case of a prenatally unrecognized aphallia with complete urethral atresia in a full-term baby, without an associated fistula or ectopic urethra. We postulate a urachal cyst noted on prenatal ultrasound resolved into a patent urachus providing sufficient outflow to avoid sequelae of oligohydramnios and allowed for term birth.