Urine biochemistry to predict long-term outcomes in fetuses with posterior urethral valves.

Objective: Because the literature on the predictive value of fetal urinalysis is controversial in fetuses with lower urinary tract obstruction, we determined the best model of fetal urine biochemical markers correlated with long-term postnatal renal function based on glomerular filtration rate (GFR).

Method: This retrospective study concerned 89 fetuses with lower urinary tract obstruction and their renal function after 10 years of age. We correlated fetal urine biochemical markers (total protein, β2-microglobulin, sodium, chloride, glucose, calcium, and phosphorus) with GFR at 10 to 30 years of age in 89 patients with posterior urethral valves.

Low-Cost Training Simulator for Open Dismembered Pyeloplasty: Development and Face Validation.

Purpose: Surgical simulation has benefited from a surge in interest over the last decade because of the increasing need for a change in the traditional apprenticeship model of teaching surgery. Open surgery for ureteropelvic junction (UPJ) poses unique training challenges owing to smaller workspaces, and finer sutures used that require increased surgical dexterity when compared with adult analogues. We describe the development and face validation of a low-cost training simulator for open dismembered pyeloplasty.

[Imaging strategy for children after a first episode of pyelonephritis].

Pyelonephritis is a common bacterial disease in young children and is a serious infection because of its potential to produce renal scarring. One of the concerns of physicians is therefore the diagnosis of uropathy at risk for recurrence of pyelonephritis, especially high-grade reflux. There are no French recommendations on imaging evaluation after a first episode of pyelonephritis.

Q-island flap urethroplasty: 1-stage procedure for reconstruction of Y-type urethral duplications in children.

Purpose: We review our experience with Q-flap urethroplasty in children with Y-type urethral duplication.

Materials And Methods: Six children with Y-type urethral duplication underwent 1-stage urethral reconstruction using Q-flap urethroplasty between 1988 and 2012. The ventral hypospadiac urethra was always the functional one, and, therefore, was used for urethroplasty.

Impact of spinal dysraphism on urinary and faecal prognosis in 25 cases of cloacal malformation.

Objective: Urinary and faecal continence are key challenges goal of cloacal malformation management. Most well-known prognostic factors are the length of common channel (CC) and the presence of a sacral defect, but the impact of associated spinal dysraphism is less well documented. The aim of this study was to investigate the impact of different types of dysraphism on urinary and faecal continence in this patient population.

Mutations in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination.

In recent years, considerable advances have been made in our understanding of genetics of mammalian gonad development; however, the underlying genetic aetiology in the majority of patients with 46,XY disorders of sex development (DSD) still remains unknown. Based on mouse models, it has been hypothesized that haploinsufficiency of the Friend of GATA 2 (FOG2) gene could lead to 46,XY gonadal dysgenesis on specific inbred genetic backgrounds. Using whole exome sequencing, we identified independent missense mutations in FOG2 in two patients with 46,XY gonadal dysgenesis.

[Anorectal malformations].

Anorectal malformations (ARM) are the result of an abnormal development of the terminal part of the digestive tract interesting anus and/or rectum that occur early between the sixth and tenth week of embryonic development. They carry a malformation spectrum of severity depending on the level of disruption of the anorectal canal and of the associated caudal malformations (sacrum and spine). ARM are associated in over half the cases with other malformations that can be integrated in some cases in known syndromes.

Outcome of prenatally detected bilateral higher urinary tract obstruction or megacystis: sex-related study on a series of 709 cases.

Objective: To compare the sex specific outcome of fetuses with prenatally detected urinary tract dilatation, with the exclusion of pyelectasia.

Method: Included in the study were 709 cases of major dilatation of the fetal urinary tract, diagnosed at routine ultrasound scan. For each sex group, cases were divided into two subgroups depending on the level of dilatation.

Foxl-2 in gonad development and pathology.

The Foxl-2 gene is involved in eyelid and ovary development. Mutations can lead to a shortened protein and malformations such as BPES associated or not to POF. Forkhead point mutation C134W is a marker of adult type granulosa cell tumors only.

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).

Outcome of continence procedures after failed endoscopic treatment with dextranomer-based implants (DEFLUX®).

Purpose: To evaluate outcome of further continence procedures after failure of endoscopic injections of dextranomer-based bulking agent.

Materials And Methods: From 1997, 89 children (3-18 years) and one young adult were treated for incontinence with 145 endoscopic injections of dextranomer. On evaluation, each patient was classified as: dry, significantly improved, or treatment failure.

Predominant Sertoli cell deficiency in a 46,XY disorders of sex development patient with a new NR5A1/SF-1 mutation transmitted by his unaffected father.

Objective: To further investigate the molecular mechanism by which NR5A1/SF-1 mutation led to gonadal dysgenesis with predominant Sertoli cell defect.

Design: Genetic and functional mutation study.

Setting: University hospital.

Traumatic hemipelvectomy in children: report on 2 survivors with urological involvement.

Traumatic hemipelvectomy through the sacroiliac joint is a devastating injury, mainly because of motor vehicle accidents. Recent improvements in prehospital trauma care have increased the chances of survival for victims. Besides amputation of the lower limb, associated complications usually involve digestive and urological systems.

Hypospadias: surgery and complications.

The aim of this review is to summarize the various steps of the surgical procedures to treat a hypospadias. Hundreds of procedures have been described but most of them follow the same principles. They include correction of a ventral curvature, the urethroplasty itself and penile skin reconstruction.

Complete androgen insensitivity syndrome: diagnosis and management.

Complete androgen insensitivity syndrome (CAIS) is an X-linked genetic disorder affecting 46,XY individuals, characterized by the loss of function of the androgen receptor gene resulting in complete peripheral androgen resistance. Patients have a nonambiguous female phenotype with normal female external genitalia. Gonads are undescended testes (either intra-abdominal or inguinal), there is no uterus and the length of the vagina is usually very short.

Female epispadias management: perineal urethrocervicoplasty versus classical Young-Dees procedure.

Purpose: We compared the functional results of 1-stage perineal urethrocervicoplasty and vulvoplasty vs the classic Young-Dees procedure for incontinent female epispadias.

Materials And Methods: We treated 14 female patients with incontinent epispadias between 1997 and 2007, of whom 7 each underwent the Young-Dees procedure until 2004 (group 1) and 1-stage urethrocervicoplasty with vulvoplasty through a perineal subsymphyseal approach (group 2). We retrospectively compared patient age at surgery, bladder capacity, continence outcome and postoperative morbidity.

Keyhole sign: how specific is it for the diagnosis of posterior urethral valves?

Objectives: Posterior urethral valves (PUV) are the most common cause of renal impairment in boys during early childhood. Although antenatal suspicion of this pathology has become quite common in recent years, prenatal diagnosis remains challenging. The aim of this study was to evaluate the predictive value of different ultrasound criteria currently used to diagnose PUV.

Bleeding complications after ritual circumcision: about six children.

Circumcision is the most common surgical procedure in boys. Even if the procedure is frequent, circumcision can have tragic complications. We report the cases of six children, seen over 1 year at the emergency department for bleeding complication or mutilation after ritual home circumcision.

Original Koyanagi urethroplasty versus modified Hayashi technique: outcome in 57 patients.

Objective: To compare outcomes of the original Koyanagi technique with the Hayashi modification in severe hypospadias, i.e. hypospadias with a division of the corpus spongiosum located behind the penile midshaft associated with marked hypoplasia of the ventral aspect of the penis and a non-preservable urethral plate.

Antenatal isolated hydronephrosis associated with urinoma.

Two cases of prenatally identified urinoma associated with an isolated hydronephrosis are presented, and the pathophysiology and prognosis of this rare condition are discussed. The presence in utero of a peri-renal collection associated with an isolated hydronephrosis seems to be a sign of significant renal dysplasia. These urinomas disappear spontaneously, thus drainage is not necessary, except in the case of compression of surrounding structures.

Pitfalls in the diagnosis and management of obstructive uterovaginal duplication: a series of 32 cases.

Objectives: Obstructive uterovaginal duplication is rare and frequently misdiagnosed. The aims of this study were to review all the patients managed for this malformation in our institution, evaluate their long-term outcomes, and discuss the embryologic origin of this malformation.

Methods: From 1984 to 2007, we treated 32 patients for obstructive uterovaginal duplication in our institution.