Introduction: With the evolving antibiotic crisis, alternate strategies to treat or prevent urinary tract infections (UTI) in children are necessary. One area of interest includes strategies that replenish or repair damaged bladder extracellular matrix. Reports of treatments include oral dimethyl sulfoxide, pentosan polysulfate and intravesical glycoaminoglycans (GAG). These treatments have established practice in adults for bladder pain and ketamine bladder and prevention of UTI. We aim to summarise the basic sciences, the putative mechanisms of actions, the evidence for GAG and alternate bladder repair treatments in adults and children for the prevention of urinary tract infections. Methods: We reviewed the literature, utilising expert librarian assistance, and using Pub Med, Google and AI search engines to find papers pertaining to bladder extracellular matrix, urothelium, glycoaminoglycans and other synonyms for the class of treatments of bladder repair and inspected in the context of urinary tract infections. We additionally undertook expert conversations to enrich this review discussion. Findings: The basic sciences show encouraging findings of in-vitro and animal models for bacterial adherence improvements and anti-bacterial effects with GAG therapies. Anti-inflammatory effects are also seen. Arguments of the primacy of bladder extracellular matrix as anti-bacterial defense do not stand to scrutiny. The clinical evidence for GAG therapy is most convincing in the field of post-menopausal women with dysbiosis and adult bladder pain syndrome (BPS). In most papers structural and functional bladder patients are excluded. The clinical evidence for prevention of UTI in adults in high quality large scale randomisation is missing, but there is good promise in smaller cohort studies. Many of the reported papers utilise the EAU definition of UTI of symptoms and / OR culture which means efficacy may be relief of lower urinary tract symptoms, rather than prevention of disease. There are protocols and active recruitment to multicentre randomised trials in adult UTI. The evidence in children is limited but small scale single centre cohorts show positive effects of intravesical GAG. Bladder treatments have a good safety profile but questions must be raised to cost and tolerability in children as the delivery method requires catheterisation. Conclusion: Good quality evidence for bladder repair therapies remains limited for prevention of UTI in children. The putative mechanism of bacterial anti-adherence and bladder protection is intellectually intriguing. The clinical evidence of benefit is predominantly in preventing UTI is the setting of adult dysbiosis. We suggest caution in applying evidence in populations excluding functional and anatomical anomalies to pediatric UTI but recognise a limited role in selected children, especially those already catheterizing, resistant to other methods of UTI prevention.

Aim Some children require long-term drainage of the bladder but do not tolerate clean intermittent catheterisation (CIC) urethrally. We aimed to compare long term suprapubic catheter (SPC) drainage vs Mitrofanoff conduit (allowing CIC) by comparing the survival of the drainage methods and rates of urinary tract infection (UTI). Method Retrospective review of a single surgeon's experience (2007-2023). Data collection included diagnosis, age at procedures, date of surgery, date of most recent follow-up and date and reason for unplanned surgery. For SPCs, initial insertion of SPC and then conversion to a Foley catheter under GA was taken as normal (event free survival) and only further operations were counted as complication events. For Mitrofanoffs, any subsequent operation was counted as a complication. Data were given as a number (%) or median (interquartile range) as appropriate. Data analysed by Fisher exact and Mann-Whitney U-test. Kaplan Meier (KM) survival of drainage routes was compared, P < 0.05 taken as significant. Results There were 45 patients (n = 86 SPC episodes) compared to 108 patients (n = 110 Mitrofanoff procedures). Data were available in 73 SPC episodes and 109 Mitrofanoff episodes, including 3 redo procedures (one from another centre). There was no difference in gender (SPC group, 67 % male vs. Mitrofanoff group, 77 %; N.S.). There was no difference in age at procedure [7.5 (2.9-11.5) years vs 8.3 (5.9-11.4) years respectively; N.S.) KM comparison showed that Mitrofanoff have a better event-free survival than SPC (91 % vs 52 % at 1 year; 80 % vs. 13 % at 5 years; P < 0.0001). Paired data showed a significant (86 %) reduction in rate of UTI with conversion from SPC to Mitrofanoff drainage in 15 patients; SPC: 0.13 (0-0.46) UTIs/month vs subsequent Mitrofanoff: 0.02 (0-0.08) UTI/month, P = 0.04). Conclusion SPCs had a much higher rate of unplanned surgery than Mitrofanoffs, creating a considerable unplanned burden of care for families and clinical staff. For long-term bladder drainage CIC via a Mitrofanoff conduit should be considered in preference to SPC where urethral CIC is not possible. (c) 2024 Published by Elsevier Inc.

BACKGROUND:WFS1 spectrum disorder, also known as Wolfram syndrome (WS) is an ultra-rare (<1:500,000; ORPHA: 3463) monogenic (OMIM #222300) progressive neuroendocrine and neurodegenerative disorder, characterised by early-onset insulin-dependent diabetes, optic atrophy, central diabetes insipidus and sensi-neuronal deafness. It is caused predominantly by bi-allelic mutations in the WFS1 gene and exceptionally in the WFS2-gene. There is very limited published data on gonadal function in young people with WS. Expansion of the phenotype has previously included suggestions of abnormalities in puberty in adolescents with (WS) but with little detail.1-3 AIM: To assess testicular function and pubertal progression in a cohort of adolescent and young adult patients with classical WFS1 spectrum disorder (WS). METHODS:Retrospective case notes review of national patient cohorts comprising 21 males with WS aged 16-30 years. All patients were treated in two tertiary European health care centres: in Birmingham, UK and Münster, Germany. Hormonal parameters reflecting hypothalamic-pituitary-gonadal axis function and treatment with sex hormones were assessed. In addition, the presence or absence of erectile dysfunction was explored. In a subset of men, semen data were analysed. In one young man, testicular biopsies were examined histologically using light and electron microscopy. RESULTS:Severely delayed or arrested puberty was observed in 57% of male adolescents with WS, necessitating testosterone replacement for completion of pubertal development. Subclinical (compensated) hypergonadotropic hypogonadism with still adequate testosterone serum concentration for age, but elevated LH/FSH was observed in 28.6% (n = 6). In two males, aged 19 and 16 years (9.5%), inadequately low LH/FSH and testosterone levels indicated hypogonadotropic hypogonadism. In the subset of males with normal puberty and normal endocrine testicular function (43% of male patients), the oldest, aged 30 years had normal sperm count in semen. Another young man had oligozoospermia at age 20, but azoospermia at age 25 years. Histology of his testicular tissues evidenced structural alterations of Leydig and Sertoli cells and tubular atrophy with various stages of tubular degeneration and meiotic arrest of spermatogenesis. CONCLUSION:Endocrine testicular function and reproductive capacity are impaired in males with WS potentially due to premature degeneration of the testes, with 57% of adolescents developing hypogonadism with pubertal arrest.

OBJECTIVES:Precise and timely diagnosis is essential in the management of children born with atypical genitalia/differences or disorders of sex development (DSD) to provide optimal personalised care. Establishing the diagnosis can be challenging and time-consuming. The human chorionic gonadotrophin (hCG) stimulation test is useful in assessing male gonadal function, and stimulated testosterone: 5α-dihydrotestosterone (T:DHT)>10 suggests 5-alpha reductase type 2 (SRD5A2) deficiency. METHODS:We report the clinical, hormonal and genetic data of patients with 46, XY DSD with genetically confirmed SRD5A2 deficiency to assess the value of the hCG-stimulated T:DHT ratio in the diagnostic work-up. Additionally, we reviewed the literature on the usefulness of hCG-stimulated androgen ratios in determining DSD aetiology. RESULTS:Of 14 patients with genetically confirmed SRD5A2 deficiency, including one novel variant, nine underwent hCG stimulation test: seven in infancy, one at 4 years and one at puberty. A T:DHT ratio above 10 was observed in seven patients (median: 15; range: 10.7-66.5). Two patients, aged one month and 4 years, had ratios of 8.3 and 4.4, respectively. Urinary steroid profiling (GC/MS) suggested SRD5A2 deficiency in all patients who had the testing (n=13). No association was found between T:DHT ratios and age at presentation or external masculinisation score (EMS). CONCLUSIONS:The hCG stimulation test appears less sensitive than urinary steroid profiling in establishing the diagnosis of SRD5A2 deficiency.

INTRODUCTION:Bladder augmentation in the UK has been largely by enterocystoplasty or ureterocystoplasty (UC). Ileocystoplasty can be simple patch placement (SPP), or formation of an ileal cup (IC). Urothelium is the "right" mucosa, whereas intestinal mucosa exhibits absorption, mucus production, malignancy. On videourodynamics it can be shown that SPP fills with a poor conformation (irregular shape), while IC was good, and UC adequate. Our aim was to measure the long-term outcomes of augmentation, comparing UC ("right" mucosa and adequate conformation), to SPP ("wrong" mucosa and poor conformation) to IC ("wrong mucosa" and good conformation). METHODS:Single-centre retrospective review. Patients were identified from operative logs for the period 2005 to 2022. Registered as an audit (CARMS 31503). Data collected included: demographics, dates: operation, redo-surgery, imaging, stones (renal/bladder) and any intervention. Data were given as numbers (%), median (range) analysed by Fisher exact test where P < 0.05 was taken as significant. RESULTS:There were 168 bladder augmentations: UC (n = 24), SPP (n = 72), and IC (n = 72). Follow-up was no different for IC 4.23 (0.05-11.50) vs SPP 4.43 (0.15-13) yrs, but was longer for UC at 6.2 (4.1-8.9) yrs. Age at augmentation was 6.7 (2.5-17.1) vs 8.1 (2-17) vs 11.6 (5.9-17) yrs respectively (UC vs IC vs SPP, P = 0.0001). Revision surgery was required in 3/24 (12.5 %) UC, 6/72 (8.3 %) SPP, and 0/72 (0 %) IC. IC had fewer redos than SPP, P = 0.028. Long-term survival was significantly better for IC (100 % at 10 years, vs UC 85 % at 10 years and SPP 96 % at 5 yrs and 75 % at 10 yrs, log-rank P < 0.05). Imaging follow-up was available in SPP (n = 56) IC (n = 62), UC (n = 24) with renal stones identified in 7/56 (%) SPP, 2/62 (%) IC, and 0 in UC. Bladder stones were present in SPP 5/56 (8.9 %) vs IC 2/62 (3.2 %), NS. Stone-free survival was 100 % at 10yrs in UC, 95 % in IC, and 62 % in SPP, P = 0.028. Combining bladder failure leading to reaugmentation and bladder stones requiring surgery, allows comparison between SPP and IC: In SPP bladder stones and augment failure occurred in 15.3 %, vs 2.8 % in IC. There is a 6.3-fold increase in bladder stones and augment redo with SPP [irregular filling bladder (poor conformation) and the "wrong" mucosa] vs IC (good confirmation, but "wrong" mucosa). CONCLUSION:Augmentation survival is influenced by conformation and presence of the "right" mucosa. UC is only possible in 14 % of cases, and an IC is preferable to SPP when an enterocystoplasty is needed.

INTRODUCTION:Paediatric urologists manage a spectrum of conditions, much of the evidence for relevant treatment pathways is of low quality. For many conditions treatment varies according to location and surgeon; children with the same condition might have surgery in one unit but watchful waiting in another. Underlying this variation are differences in opinion, and insufficient high-level evidence with few prospective randomized studies. Such studies may be challenging to design, fund and recruit into, and are more likely to succeed if there is a collaborative approach. Research prioritization is a tool to identify the research of most value. Delphi methodology is an interpretive technique aiming to gain the consensus view of interested parties. The British Association of Paediatric Urologists (BAPU) set out to ascertain consensus on what paediatric urologists, working in the UK, consider to be areas of priority for research. This paper describes the process used, and the resulting list of research questions. METHODS:A scoping survey of paediatric urologists in the UK was undertaken to identify an initial set of research questions. These were refined by the BAPU research committee (BAPU RC), then prioritized using a modified Delphi process. During Stage 1a multiple new research questions were submitted leading to Stage 1b, an interim process. All UK paediatric urologists were invited to take part in Stage 2 of the prioritization process. RESULTS:Sixty-five questions were submitted to the scoping survey by 24 paediatric urologists. The BAPU RC refined these to 60 questions, which were submitted to Stage 1a of the modified Delphi process. Sixty-seven people completed Stage 1a, at the same time submitting 224 additional research questions. The BAPU RC revised the entire question set, ensuring the key subject of the original question was not altered and novel questions were retained. The BAPU RC undertook interim scoring of the resultant 79 questions, the top scoring 25 questions plus 5 lower scoring 'wild card' questions (to ensure the breadth of the specialty was represented) were put forward to Stage 2. A total of 65 people completed Stage 2, including a lay representative. A list of 30 priority research questions was generated; the top 10 includes management of neuropathic bladder, posterior urethral valves, antibiotic prophylaxis, DSD & CAH, continence, male external genitalia, VUR and transition care (Table). CONCLUSION:This process has provided BAPU, paediatric urologists in the UK, and funders with areas of research considered a priority in the specialty.

Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

This article outlines the embryology, natural history, and management of different conditions of the foreskin and penis in children. Although the classification of hypospadias is included, the management of this condition is not. Epispadias is not covered at all.

Aim: Cystic ovarian masses in children may be physiological or neoplastic. It is mandatory that suspected neoplastic lesions are resected without tumour spillage. However, a large midline incision is cosmetically unappealing incision to young women. Here we describe our experience of using controlled drainage without spillage that allows a cosmetic pfannenstiel approach without compromising oncological principles.& nbsp;Method: All girls treated with large ovarian cystic masses since 2008 in our centre were identified and data was collected prospectively.& nbsp;A small pfannenstiel incision was performed followed by peritoneal washings; tissue glue was used to stick an Opsite (TM)& nbsp;dressing to the cyst surface and fluid drained so there was no leakage back into the patient. Once aspirated the cyst was delivered and an ovarian preserving cystectomy was performed where possible.& nbsp;Results: Twenty-three girls (median age 14.5 years (8.1 to 16.5 years) were included. Pre-operative MRI scan showed a complex lesions with median volume of 1169 ml (range 252-7077 ml). At surgery 22/23 cysts were intact and removed without spillage. Histology: mature teratoma (11), serous cyst (3), mucinous cyst adenocarcinoma (2), mucinous cystadenoma (5), Sertoli-Leydig tumour, sclerosing stromal tumour. One girl with pre-operative rupture of a mucinous adenocarcinoma subsequently died. Ovarian sparing cystectomy was performed in 17/23 girls. All other patients are well without evidence of recurrence.& nbsp;Conclusion: This is the largest series in children and adolescents using controlled drainage of cystic ovarian tumours. Though there were a range of diagnoses we have shown that these can be removed safely with a cosmetic pfannenstiel approach while following oncological principles. (C)& nbsp;2021 Elsevier Inc. All rights reserved.

Background: In 2011 a consensus statement from the British Association of Paediatric Urologists recommended lowering the age at orchidopexy to under 1 year. There are concerns that a younger age at operation may increase postoperative testicular atrophy. The ORCHESTRA study aimed to establish the current age at orchidopexy in a multicentre, international audit and to see whether testicular atrophy was affected by age at operation. Methods: The study was undertaken over a 3-month period in 28 centres in boys undergoing orchidopexy for unilateral, palpable undescended testes. Data collection was done using a standardized, predetermined protocol. The primary outcome was postoperative testicular atrophy. Secondary outcomes were wound infections, reoperations, and unplanned hospital stays related to anaesthetic events. Results: A total of 417 patients were included, of whom only 48 (11.5 per cent) underwent orchidopexy before 1 year of age. There was no difference in anaesthetic complications in boys aged less than 1 year versus older patients: 0 of 48 (0 per cent) versus 6 of 369 (1.6 per cent) (P=0.999). Complete follow-up was available for 331 patients (79.4 per cent). There was no difference in atrophy rate between those aged less than 1 year and older boys: 1 of 37 (3 per cent) versus 9 of 294 (3.1 per cent) (P=0.999). Reoperation rates were 0 of 37 (0 per cent) and 7 of 294 (2.4 per cent) respectively (P=1.000). There were more wound infections in boys under 1 year of age: 4 of 37 (11 per cent) versus 7 of 294 (2.4 per cent) (P=0.025). Conclusion: Only 11.5 per cent of boys underwent surgery before the age of 1 year. There was no increased risk of postoperative testicular atrophy with early surgery, although there was a higher rate of wound infection. Further study is required to demonstrate that early orchidopexy is not inferior to orchidopexy undertaken in boys aged over 1 year.

The timing of surgery for congenital adrenal hyperplasia (CAH) is contentious. We aimed to survey expert families and patients for their recommendations regarding timing of surgery for a family with a newly diagnosed CAH child. A Survey Monkey questionnaire was performed at the 2017 meeting of the CAH support group, “Living with CAH”, and also sent to the members of the CAH support group. The surgical-timing responses were a Likert score from 1 (strongly disagree) to 5 (strongly agree). Data were analysed by Kruskal–Wallis test. p < 0.05 taken as significant. Of the 61 respondents, 12 were CAH patients, 43 were CAH parents, 3 were physicians, 1 surgeon and 2 others. For all respondents, the Likert score was 3 for infant, toddler and adult timing of surgery (neutral), not statistically significant (ns). For parents and/or children who had surgery (n = 26), the score was 4 (3–5) for infant vs. 4 (3–4) for toddler-years vs. 2 (1–3) for adulthood. This was statistically significant (p = 0.0002). When only patients who had CAH surgery were included, there were only 8 respondents and their scores were: infancy 3 (2–4) vs. toddler-years 4 (2–4) vs. adulthood 1 (1–4), ns. Expert families and patients in the United Kingdom who have had CAH surgery, recommend surgery in the first few years of life vs. adulthood. There is a selection bias, however this may support MDTs in continuing to discuss surgery as an option in childhood.

Aim: The most common cause of congenital bladder outlet obstruction (BOO) is posterior urethral valves (PUV). Initial treatment requires decompression, but transurethral incision (TUI) or primary diversion is all described. There is no randomized control trial to guide management. This study aims to describe management, circumcision, and UTI rate in a national cohort of PUV boys. Methods: Boys diagnosed with BOO were recruited (via BAPS CASS) over 1 year with ethics committee approval (ref: 12/SC/0416). Data were collected via questionnaire, presented as number (%), analyzed by Mann-Whitney/chi-square/Fisher Exact tests, and p < 0.05 was taken as significant. Results: BOO presented in 121 boys during 2014-2015, and 113 were PUV. Catheter placement in 87/121(72%) was more likely to happen in antenatal vs. postnatal vs. late(>1 y) presentations, p < 0.0001. Polyuria occurred in 23/45(51%), 12/48(25%), 0/28(0%), respectively, p < 0.0001. Initial surgical treatment was TUI in 108/121 (89%) and vesicostomy in 2. Two ureterostomies were secondary procedures. Circumcision was performed in 52/121(43%) in antenatal presentation vs. postnatal vs. late 27/45(60%), 20/48(42%), 2/28(7%), respectively, p = 0.01. 69 UTIs occurred in 49 patients. Circumcision was associated with an 86% reduced risk of UTI, p < 0.0001. There was a 66% reduction in UTI risk associated with TUI alone, p < 0.01. There was 1 death due to pulmonary hypoplasia and renal failure, and 2 experienced end-stage renal failure (ESRF). Conclusion: Standard treatment for BOO and PUV in the current UK cohort is urethral catheterization followed by TUI. Supravesical diversion is a rescue therapy. UTIs are common and reduced by circumcision, with 43% being circumcised. Initial mortality rate was 1%, and 1.6% present in ESRF. Crown Copyright (C) 2018 Published by Elsevier Inc. All rights reserved.