Barrier-Forming Potential of Epithelial Cells from the Exstrophic Bladder.

Bladder exstrophy (BEX) is a rare developmental abnormality resulting in an open, exposed bladder plate. Although normal bladder urothelium is a mitotically quiescent barrier epithelium, histologic studies of BEX epithelia report squamous and proliferative changes that can persist beyond surgical closure. The current study examined whether patient-derived BEX epithelial cells in vitro were capable of generating a barrier-forming epithelium under permissive conditions. Epithelial cells isolated from 11 BEX samples, classified histologically as transitional (n = 6) or squamous (n = 5), were propagated in vitro. In conditions conducive to differentiated tight barrier formation by normal human urothelial cell cultures, 8 of 11 BEX lines developed transepithelial electrical resistances of more than 1000 Ω.cm2, with 3 squamous lines failing to generate tight barriers. An inverse relationship was found between expression of squamous KRT14 transcript and barrier development. Transcriptional drivers of urothelial differentiation PPARG, GATA3, and FOXA1 showed reduced expression in squamous BEX cultures. These findings implicate developmental interruption of urothelial transcriptional programming in the spectrum of transitional to squamous epithelial phenotypes found in BEX. Assessment of BEX epithelial phenotype may inform management and treatment strategies, for which distinction between reversible versus intractably squamous epithelium could identify patients at risk of medical complications or those who are most appropriate for reconstructive tissue engineering strategies.

Are weight or age limits for pediatric laparoscopic pyeloplasty? Results of a multicentric study.

INTRODUCTION: Anderson-Hynes pyeloplasty is the technique of choice for the treatment of pyeloureteral junction obstruction (PUJO) with an excellent success rate. Minimally invasive surgery has become the standard of care for the management of PUJO in children. Although it has been comparable to the open approach at all levels, its diffusion or employment in younger children has not been widely adopted. Our aim is to evaluate laparoscopic pyeloplasty outcomes from international academic centers in children under 1 year of age, focusing on feasibility and outcomes including possible complications. MATERIALS AND METHODS: This is review of consecutive infants under 1 year of age who underwent laparoscopic pyeloplasty between 2009 and 2018 with more than 12 months of follow-up. Seven different training centers with different backgrounds participated in this study. Evaluation was carried out with ultrasound and renogram before and after surgery. Demographic data, perioperative characteristics, complications, and results are described and analyzed. RESULTS: Over 9 years, 124 transperitoneal laparoscopic Anderson-Hynes pyeloplasties were performed on 123 children under 1 year of age; 88 males and 35 females, with 1 case of bilateral PUJO. Of the 124 renal units, 86 were left-sided. Mean age at surgery was 6.6 months (1 week-12 months), with 56% (n = 70) done before 6 months of age. Mean weight at surgery was 6.8 kg (3-12 kg), with 59% (n = 73) weighing less than 8 kg. Mean operative time (skin-to-skin) was 150 min (75-330 min). After a mean follow-up of 46 months (12-84 months), 12 (9%) patients developed complications, with only 1 needing a redo pyeloplasty also done laparoscopically. One child, with deterioration in renal function, underwent nephrectomy. CONCLUSION: Laparoscopic pyeloplasty under 1 year of age and/or less than 12 kilos is feasible with lower complication rate. Furthermore, age younger than 6 months and weight less than 8 kg are no longer limiting factors for a successful pyeloplasty as shown by this multicentre study.

Radiological and surgical correlation of pelviureteric junction obstruction in positional anomalies of the kidney in children.

Pelviureteric junction obstruction, also known as ureteropelvic junction obstruction, is a congenital narrowing of the urinary excretory tract at the junction between the renal pelvis and the ureter and is a common cause of congenital pelvicalyceal dilatation. The outcome is variable, from spontaneous resolution to renal parenchymal function loss in cases of untreated high-grade obstruction. Abnormalities in renal ascent, rotation and vascularity can be associated with pelviureteric junction obstruction and easily overlooked radiologically. In this pictorial review, we explore the anatomical, radiological and surgical correlations of pelviureteric junction obstruction in the context of a normal kidney and a spectrum of renal abnormalities, including hyper-rotation (also known as renal malrotation), failed renal ascent, fusion anomalies and accessory crossing renal vessels. For each scenario, we provide technical tips on how to identify the altered anatomy at the first ultrasound assessment and correlation with scintigraphic, cross-sectional and postoperative imaging where appropriate. A detailed ultrasound protocol specifically to assess and characterise pelviureteric junction obstruction in paediatric patients is also offered.

Paediatric kidney transplantation: Towards a framework for pretransplant urological evaluation.

The role of the urologist in paediatric kidney transplantation has evolved alongside advances in management for the various causes of end-stage kidney disease. Improvements in antenatal intervention and postnatal care have seen children with increasingly complex urological anomalies survive until transplant. Once solely responsible for the oversight of a child's surgical care, the paediatric urologist now works within a multidisciplinary transplant team, alongside transplant surgeons, paediatric nephrologists, transplant coordinators, psychologists, social workers, and transitional care specialists. We sought to identify available pretransplant evaluation frameworks to guide urological preparation and decision-making. Drawing from available evidence and reflecting on multi-institutional experience, we propose a streamlined approach to urologic assessment, which recognises that optimal transplant outcomes in this heterogenous cohort require lower urinary tract dysfunction to be carefully defined preoperatively.

Lower Urinary Tract Symptoms in Adult Females after Feminizing Genitoplasty for Congenital Adrenal Hyperplasia.

PURPOSE: We investigated quality of life, long-term lower urinary tract symptoms, sexual function and subjective attitudes toward surgery in adult women after feminizing genitoplasty for congenital adrenal hyperplasia. MATERIALS AND METHODS: We retrospectively reviewed the medical files of all patients with congenital adrenal hyperplasia who underwent feminizing genitoplasty from 1996 to 2018 in our tertiary center. Of those, patients older than 16 years of age were asked to answer 1 nonvalidated and 3 standardized and validated questionnaires evaluating their current mental well-being (WHO-5 Well-Being Index), lower urinary tract symptoms (ICIQ-FLUTS) and sexual function (GRISS). The anonymized answers of this cross-sectional study were compared to a control group of 50 healthy females. Student's t-test, Pearson's χ2 test, Fisher's exact test and Spearman's rank correlation coefficient were performed. A p-value less than 0.05 was considered significant. RESULTS: Out of 106 patients who underwent feminizing genitoplasty, 64 patients were included and 32 patients, aged 17 to 40 years (median 25.5 years), answered the questionnaires (50% response rate). The difference between congenital adrenal hyperplasia and control group mental well-being was not statistically significant (WHO-5 median score 60 and 64, respectively; p=0.82). We found no significant difference in the lower urinary tract symptoms subscales of filling, voiding or incontinence, nor in the overall lower urinary tract symptoms score (ICIQ-FLUTS overall median score 3.5 and 3, respectively; p=0.43). CONCLUSIONS: We found in our group no abnormal mental well-being or prevalence of long-term symptoms of lower urinary tract dysfunction in adult female patients with congenital adrenal hyperplasia following feminizing genitoplasty.

22q11.2 duplications in a UK cohort with bladder exstrophy-epispadias complex.

The bladder exstrophy-epispadias complex (BEEC) comprises of a spectrum of anterior midline defects, all affecting the lower urinary tract, the external genitalia, and the bony pelvis. In extreme cases, the gastrointestinal tract is also affected. The pathogenesis of BEEC is unclear but chromosomal aberrations have been reported. In particular, duplications of 22q11.2 have been identified in eight unrelated individuals with BEEC. The current study aimed to identify chromosomal copy number variants in BEEC. Analyses was performed using the Affymetrix Genome-wide SNP6.0 assay in 92 unrelated patients cared for by two UK pediatric urology centers. Three individuals had a 22q11.2 duplication, a significantly higher number than that found in a control group of 12,500 individuals with developmental delay who had undergone microarray testing (p < .0001). Sequencing of CRKL, implicated in renal tract malformations in DiGeorge syndrome critical region at 22q11, in 89 individuals with BEEC lacking 22q11 duplications revealed no pathogenic variants. To date, 22q11.2 duplication is the genetic variant most commonly associated with BEEC. This is consistent with the hypothesis that altered expression of a single, yet to be defined, gene therein is critical to the pathogenesis of this potentially devastating congenital disorder.

Laparoscopic and robotic-assisted repair of retrocaval ureter in children: a multi-institutional comparative study with open repair.

PURPOSE: This retrospective study aimed to report a multi-institutional experience with laparoscopic and robotic-assisted repair of retrocaval ureter in children and to compare outcome of minimally invasive surgery (MIS) with open repair. METHODS: The records of all children, who underwent MIS and open repair of retrocaval ureters in six international pediatric urology units over a 5-year period, were retrospectively collected. Data were grouped according to the operative approach: a laparoscopic group (G1) included five patients, a robotic-assisted group (G2) included four patients, and an open group (G3) included three patients. The groups were compared in regard to operative and postoperative outcomes. RESULTS: At follow-up, all patients (one G1 patient after redo-surgery) reported complete resolution of symptoms and radiologic improvement of hydronephrosis and obstruction. In regard to postoperative complications, one G1 patient developed stenosis of anastomosis and needed re-operation with no further recurrence (IIIb Clavien). G2 reported the lowest average operative time (135 min) compared to G1 (178.3 min) and G3 (210 min). MIS (G1-G2) reported a significantly better postoperative outcome compared to open repair (G3) in terms of analgesic requirements, hospitalization, and cosmetic results. CONCLUSIONS: The study outcomes suggest that MIS should be the first choice for retrocaval ureter because of the minimal invasiveness and the better cosmetic outcome compared to open surgery. Furthermore, our results showed that robotic-assisted reconstruction was technically easier, safer, and quicker compared to laparoscopic repair, and for these reasons, it should be preferentially adopted, when available.

Retroperitoneoscopic partial nephrectomy in children: a multicentric international comparative study between lateral versus prone approach.

BACKGROUND: Very limited informations are currently available about the best approach to perform retroperitoneoscopic surgery. This multicentric international study aimed to compare the outcome of lateral versus prone approach for retroperitoneoscopic partial nephrectomy (RPN) in children. METHODS: The records of 164 patients underwent RPN in 7 international centers of pediatric surgery over the last 5 years were retrospectively reviewed. Sixty-one patients (42 girls and 19 boys, average age 3.8 years) were operated using lateral approach (G1), whereas 103 patients (66 girls and 37 boys, average age 3.0 years) underwent prone RPN (G2). The two groups were compared in regard to operative time, postoperative outcome, postoperative complications, and re-operations. RESULTS: The average operative time was significantly shorter in G2 (99 min) compared to G1 (160 min) (p = 0.001). Only 2 lateral RPN required conversion to open surgery. There was no significant difference between the two groups as for intraoperative complications (G1:2/61, 3.3%; G2:6/103, 5.8%; p = 0.48), postoperative complications (G1:9/61, 14.7%; G2:17/103, 16.5%; p = 0.80), and re-operations (G1:2/61, 3.3%; G2:4/103, 3.8%; p = 0.85). Regarding postoperative complications, the incidence of symptomatic residual distal ureteric stumps (RDUS) was significantly higher in G2 (7/103, 6.8%) compared to G1 (1/61, 1.6%) (p = 0.001). Most re-operations (4/6, 66.6%) were performed to remove a RDUS . CONCLUSIONS: Both lateral and prone approach are feasible and reasonably safe to perform RPN in children but the superiority of one approach over another is not still confirmed. Although prone technique resulted faster compared to lateral approach, the choice of the technique remains dependent on the surgeon's personal preference and experience. Our results would suggest that the lateral approach should be preferred to the prone technique when a longer ureterectomy is required, for example in cases of vesico-ureteral reflux into the affected kidney moiety, in order to avoid to leave a long ureteric stump that could become symptomatic and require a re-intervention.

Diagnosis and long-term outcome of renal cysts after laparoscopic partial nephrectomy in children.

OBJECTIVE: To document the imaging follow-up of laparoscopic partial nephrectomy (LPN) in children and to investigate the natural history of cystic lesions following LPN. PATIENTS AND METHODS: We reviewed the ultrasonography (US) imaging reports performed during the follow-up of 125 children (77 girls, 48 boys; mean age 3.2 years) who underwent LPN in two centres of paediatric surgery in the period 2005-2015. RESULTS: A transperitoneal approach was adopted in 83 children and a retroperitoneal approach in 42. The mean follow-up was 4.2 years. At US, an avascular cyst related to the operative site was found after 61/125 procedures (48.8%). As for their appearance, 53/61 cysts were simple and anechoic, and eight of the 61 cysts appeared septated. The mean diameter of the cysts was 3.3 × 2.8 cm. As for their course, 13/61 cysts (21.3%) disappeared after a mean of 4 years, 26/61 (42.6%) did not significantly change in dimension, 17/61 (27.8%) decreased in size, and only five of the 61 cysts (8.3%) enlarged. The cysts were asymptomatic in 51 children (83.6%), while they were associated with urinary tract infections (UTIs) and abdominal pain in the remaining 10; none required a re-intervention. CONCLUSIONS: The US finding of a simple cyst at the operative site after LPN is common during follow-up, with an incidence of ~50% in our series. In regard to aetiology, probably a seroma takes the place of the removed hemi-kidney. There was no correlation between cyst formation and type of surgical technique adopted. As there was no correlation between cysts and clinical outcomes, renal cysts after LPN can be managed conservatively, with periodic US evaluations.

5 years after an ACE: what happens then?

PURPOSE: Antegrade continence enema (ACE) revolutionised the lives of children with chronic constipation and soiling. Parents often ask how long the ACE will be required. We looked at our patients 5 years after ACE formation to answer the question. METHODS: We reviewed clinical notes of all patients undergoing ACE procedure during January 1990 to December 2010. Only patients with >5 years follow-up were included. Data are given as median (range). RESULTS: 133 patients were included with >5 years of follow-up. Primary pathology was anorectal anomaly (ARA) 64 (48%); spinal dysraphism (SD) 40 (30%); functional constipation (FC) 14 (10%); Hirschsprung's Disease (HD) 10 (8%) and others 5 (4%). Median follow-up was 7 years (5-17 years). Overall 74% still use their ACE; whilst 26% no longer access their stoma, of whom 47% recovered normal colonic function. 50% of HD patient recover colonic function. FC has the highest failure rate at 21%. CONCLUSIONS: Overall 86% achieved excellent clinical outcome with 74% of patient still using their ACE at 5 years. HD has the highest recovery rate of 50%. FC has a more unreliable clinical outcome with 21% recovered colonic function and 21% failed. Outcome varied dependent on the background diagnosis.

Phaeochromocytomas and paragangliomas: A difference in disease behaviour and clinical outcomes.

BACKGROUND: Phaeochromocytomas and paragangliomas arise from the same chromaffin cell, but evidence suggests they do not represent a single clinical entity. The aim of this study was to compare clinical presentations, outcomes of surgical and oncological treatments and survival in patients with phaeochromocytomas and paragangliomas. METHODS: A retrospective review was undertaken of all patients treated for these conditions at our centre between 1983 and 2012. RESULTS: One hundred and six patients (88 adults, 18 children) with phaeochromocytoma (n = 83) or paraganglioma (n = 23) were studied. Catecholamine symptoms and incidentalomas were the main presentations in phaeochromocytoma patients (67% and 17%) respectively, but in those with paragangliomas pain (39%) was more common (P < 0.001). More paragangliomas were malignant (14/23 vs 9/83, P < 0.0001), larger (9.17 ± 4.95 cm vs. 5.8 ± 3.44 cm, P = 0.001) and had a higher rate of conversion to open surgery (P = <0.01), more R2 resections, more postoperative complications and a longer hospital stay (P = 0.014). MIBG uptake in malignant paragangliomas was lower than in malignant phaeochromocytomas (36% vs. 100%, P = 0.002) and disease stabilisation was achieved in 29% and 86% of patients respectively. (90) Y-DOTA-octreotate had a 78% response rate in malignant paragangliomas. CONCLUSION: The clinical differences between paragangliomas and phaeochromocytomas support the view that they should be considered as separate clinical entities.

Domestic violence, mental illness and suicidal ideation--a study from Lahore, Pakistan.

BACKGROUND: Suicidal ideation is an indicator of psychological distress and a proportion of people reporting suicidal ideation attempt or commits suicide. Mental illness of any type is strongly associated with suicidal ideation. Furthermore, the links between exposure to domestic violence and mental health problems are well established. Furthermore, a number of studies have reported an association between domestic violence and suicidal ideation. AIMS: To study the link between domestic violence, mental health and suicidal ideation. METHOD: Using data from a group of 650 Pakistani women, we explored the putative predictors of suicidal ideation using univariate and multiple logistic regression. Significant predictors were then entered into a path analysis in order to evaluate both the direct and indirect effects of domestic violence on the odds of a study participant reporting suicidal ideation. Results Mental disorders were observed to significantly predict suicidal ideation. Ability to negotiate conflict between couples appeared to both directly and indirectly, via mitigation against mental disorder, protect against suicidal ideation. CONCLUSIONS: The effect of verbal aggression on suicidal ideation appeared to be mostly mediated via its impact on mental health.

A Rare Case of Mosaic 3pter and 5pter Deletion-Duplication with Autism Spectrum Disorder and Dyskinesia.

Introduction: There is evidence that neurodevelopmental disorders are associated with chromosomal abnormalities. Current genetic testing can clinch an exact diagnosis in 20-25% of such cases. Case Description. A 3 years and 11 months old boy with global developmental delay had repetitive behaviors and hyperkinetic movements. He was stunted and underweight. He had ataxia, limb dyskinesia, triangular face, microcephaly, upward slanting palpebral fissure, hypertelorism, retrognathia, posteriorly rotated ears, long philtrum, thin lips, broad nasal tip, polydactyly, tappering fingers, and decreased tone in the upper and lower limbs with normal deep tendon reflexes. Magnetic resonance imaging of the brain, ultrasound of the abdomen, and ophthalmological evaluation were normal. Brain evoked response auditory revealed bilateral moderate hearing loss. He fulfilled the Diagnostic Statistical Manual 5 criteria for autism. In the Vineland Social Maturity Scale, his score indicated a severe delay in social functioning. His genetic evaluation included karyotyping, fluorescence in situ hybridization (FISH), and chromosomal microarray analysis (CMA). The karyotype report from high-resolution lymphocyte cultures was mos 46, XY, der(3)t(3; 5)(p26; p15.3)[50]/46, XY,der(5) t(3;5) (p26;p15.3)[50].ish. His karyotype report showed a very rare and abnormal mosaic pattern with two cell lines (50% each). Cell-line#1: 3pter deletion with 5pter duplication (3pter-/5pter+) and cell-line#2: 3pter duplication with 5pter deletion (3pter+/5pter-) derived from a de novo reciprocal translocation t(3; 5)(p26; p15.3) which was confirmed by FISH. The chromosomal microarray analysis report was normal. The two cell lines (50% each) seem to have balanced out at the whole genome level. Occupational, sensory integration, and behavior modification therapy were initiated for his autistic features, and anticholinergic trihexiphenidyl was prescribed for hyperkinetic movements. Conclusion: This case highlights a rare genetic finding and the need for timely genetic testing in a child with dysmorphism and autism with movement disorder to enable appropriate management and genetic counselling.

Latitudes and attitudes: A multinational study of laparoscopic pyeloplasty in children.

PURPOSE: The Anderson-Hynes technique has been the treatment of choice for primary ureteropelvic junction obstruction in children. Laparoscopic approach has shown similar outcomes to open, with advantages of shorter hospital stay and less pain. We reviewed the experience of 11 geographically diverse, tertiary pediatric urology institutions focusing on the outcomes and complications of laparoscopic pyeloplasty. MATERIALS AND METHODS: A descriptive, retrospective study was conducted evaluating patients undergoing Anderson-Hynes dismembered laparoscopic pyeloplasty. Centers from four different continents participated. Demographic data, perioperative management, results, and complications are described. RESULTS: Over a 9-year period, 744 laparoscopic pyeloplasties were performed in 743 patients. Mean follow-up was 31 months (6-120m). Mean age at surgery was 82 months (1 w-19 y). Median operative time was 177 min. An internal stent was placed in 648 patients (87%). A catheter was placed for bladder drainage in 702 patients (94%). Conversion to open pyeloplasty was necessary in seven patients. Average length of hospital stay was 2.8 days. Mean time of analgesic requirement was 3.2 days. Complications, according to Clavien-Dindo classification, were observed in 56 patients (7.5%); 10 (1%) were Clavien-Dindo IIIb. Treatment failure occurred in 35 cases with 30 requiring redo pyeloplasty (4%) and 5 cases requiring nephrectomy (0.6%). CONCLUSION: We have described the laparoscopic pyeloplasty experience of institutions with diverse cultural and economic backgrounds. They had very similar outcomes, in agreement with previously published data. Based on these findings, we conclude that laparoscopic pyeloplasty is safe and successful in diverse geographics areas of the world.

Penile resurfacing for denuded penis following circumcision.

Major loss of penile shaft skin following circumcision has been rarely reported in the paediatric literature and when it occurs is usually due to the injudicious use of monopolar diathermy, infection and poor surgical technique. We report the reconstruction of a penis following complete loss of penile skin due to circumcision. We employed a split-skin graft for the glans and full-thickness graft for the shaft to achieve a more natural cosmetic appearance. This approach has not been described previously in the paediatric literature and should be considered in the unfortunate event of significant penile skin loss.

Validation of Hindi Translation of Survey of Well-Being of Young Children Tool in Indian Children.

OBJECTIVE: To validate the Hindi translation of Survey of well-being of young children (SWYC), a screening questionnaire to detect developmental delay and emotional-behavior problems by primary caregivers in Indian children. METHODS: This cross-sectional observational study was done at the child development clinic of our private-sector tertiary care hospital. 180 children of either sex, 60 each in age group of 9, 18 and 24 months were enrolled in the study (30 high-risk and 30 low-risk in each group). Hindi translated version of SWYC age-specific questionnaire was administered to the parents, followed by a standardized development assessment by using the Bayley Scale of Infant and Toddler Development (BSID III). RESULT: SWYC Milestone score and Emotional/behavior scores showed a statistically significant correlation with BSID III (P<0.001). Milestone score's overall sensitivity in detecting developmental delay was 94.4% and specificity was 93.4%. The sensitivity was best for the 24-month (100%) and specificity was best for 18-month questionnaire (96.7%). Behavioral score's overall sensitivity was 68.4% and specificity 92.3%. The best sensitivity was for 18-month questionnaire (72%), and specificity for 24-month questionnaire (100%). SWYC had better sensitivity for detecting developmental delay in high-risk group (95.4%), and higher specificity in low risk group (95.5%). CONCLUSION: SWYC has strong test characteristics for detecting milestone delay and emotional/behavior problems in Indian children.

Justin H. Kelly and his procedure for bladder exstrophy and epispadias.

The operations involved in the repair of complete bladder exstrophy (CBE), familiarly known as the Kelly procedure, evolved over more than 100 years. Through repeated cycles of trial and error, some of the most prominent urologists in the world developed techniques that addressed each of the formidable surgical challenges presented by CBE and epispadias. A key figure is Justin H. Kelly of the Royal Children's Hospital, Melbourne, who made surgery for CBE his life's work. He took the lessons of his surgical predecessors, giants like: Friedrich Trendelenburg, Hugh Hampton Young, John Dees, and Guy Leadbetter, applied techniques for anorectal anomalies from his contemporary Alberto Peña, and saw his procedures improved by the next generation of leaders in paediatric urology that included Phillip Ransley, Peter Cuckow, Patrick Duffy, and John Gearhart. Over his long career, Mr Kelly modified and perfected his eponymous procedure patient-by-patient through a painstaking process of trial-and-error, bearing with his young patients and their families through every heart-breaking complication, and gradually creating the standard operation for children with CBE and epispadias.

Sexual function in adult females after feminizing genitoplasty for congenital adrenal hyperplasia.

OBJECTIVE: To investigate sexual function and subjective attitudes towards surgery in adult women after feminizing genitoplasty (FG) for congenital adrenal hyperplasia (CAH). MATERIALS AND METHODS: We retrospectively reviewed the medical files of patients who underwent FG from 1996 to 2018. Of those, patients older than 16 years of age were asked to answer non-standardized questions aiming at the awareness of genital surgery and standardized questionnaire evaluating sexual function (GRISS). The anonymized answers were compared to a control group of 50 healthy females. Student's t-test, Pearson's χ2 test, Fisher's exact test and Spearman's rank correlation coefficient were performed. A P-value less than 0.05 was considered significant. RESULTS: Out of 106 patients who underwent FG, 64 were included, 55 successfully contacted and 32, aged 17-40 years (median 25.5), answered the questionnaires (58% response rate). In all, 11 patients underwent historical clitorectomy in early childhood by a pediatric gynecologist before 1996 and pull-through vaginoplasty at puberty. A total of 21 patients underwent modern one- or two-staged FG. There were statistically significant differences between the CAH group and controls as to the proportion living in committed partnerships (28% and 84%, respectively; p = 0.0000), having sexual intercourse (41% and 92%, respectively; p = 0.0000) and having their own children (13% and 36%, respectively; p = 0.0369). The median overall GRISS score was 4 (range 1-7) in the CAH group compared to 1 (range 1-9) in the control group, with infrequency and vaginismus representing the least favorable subscales (median 5). In all, 81% of the women operated on for CAH would recommend such an operation to any other individual with CAH and 66% of them suggested the surgery should be performed in early childhood. DISCUSSION: By this study we have contributed to the debate over suggestions that FG may cause adverse effects on sexual life of the patients in adulthood, beside already published effects on their mental well-being and LUTS. Despite possible selection bias due to only 58% response rate the comparison with control group shows only a moderate sexual dysfunction and more significant impact on long-term partnership that might be caused by other factors related to CAH beside FG itself. CONCLUSIONS: Partnership, offspring, sexual frequency and function were impaired in adult females with CAH after FG. However, the median GRISS score was below the pathological level of 5.

Long-term active problems in patients with cloacal exstrophy: A systematic review.

BACKGROUND: Cloacal exstrophy (CE) is the most severe end of the Exstrophy-Epispadias Complex malformations spectrum. Improvements in postnatal management and well-established operative techniques have resulted in survival rates approaching 100%. This systematic review aims to define the prevalence of long-term active medical problems affecting CE patients after the first decade of life. METHODS: PubMed/Medline, Embase, Scopus, and ISI Web of Knowledge databases were used for the literature search. Original articles related to medical, surgical, and psychosocial long-term problems in CE patients >10 years of age were included in the study. Quality assessment of the articles was performed through the Newcastle-Ottawa Scale. Prevalence estimates and 95% CI were assessed for each outcome. RESULTS: Twelve studies were included. The most common long-term active problems identified were: urinary incontinence with a prevalence ranging from 9.1% to 85%; sexual function issues related to vaginal anomalies with a prevalence ranging from 8.3% to 71.3%, and uterine anomalies, with a prevalence from 14.3% to 71%; gender identity issues in 46, XY patients raised female had a prevalence from 11.1% to 66.7%. There is no documented history of paternity. Impairment of ambulatory capacity was recorded in 13.8% of patients. Only one paper studied psychological well-being, reporting significantly higher levels of depression among gender reassigned patients. CONCLUSIONS: Teenagers and adults born with CE have well defined long-term problems compared to the general population. Recognition and expert management are crucial to improve care and quality of life during and after the transition into adulthood.