Response to Snodgrass and Bush

We sincerely appreciate the comments made by Warren Snodgrass and Nicol Bush regarding our paper. First of all, we need to clarify that of our population of 130 patients only 66 have already reached pubertal development (55 in the preputial flap group and 11 in the staged repair). The aim of the published paper, as already clearly stated in our discussion, was limited to a retrospective analysis of the potential risk of development of megalourethra and fistula in this population. We fully agree that there is indeed a potential large amount of very important data retained in these series which may help to better understand some of the still unresolved questions on long-term outcome of hypospadias repair. Unfortunately we will need a few more years of follow-up before we will be able to fulfill these requests. Regarding the multiple questions mentioned we will try to provide some specific answers

The Discipline of Pediatric Urology: Prerogatives and Necessities

To the Editor, The aim of this “position paper” is to describe the discipline of Pediatric Urology with its clinical and cultural competencies, represent the reasons for legitimizing its existence, and reinforce its importance in the “scenario” of the National Italian Healthcare System. The requisites and the educational requirements were defined by both the Italian Ministry of Health with the State-Regions Conference, and the European Union [...

The ANTENATAL multicentre study to predict postnatal renal outcome in fetuses with posterior urethral valves: objectives and design

Abstract Background Posterior urethral valves (PUV) account for 17% of paediatric end-stage renal disease. A major issue in the management of PUV is prenatal prediction of postnatal renal function. Fetal ultrasound and fetal urine biochemistry are currently employed for this prediction, but clearly lack precision. We previously developed a fetal urine peptide signature that predicted in utero with high precision postnatal renal function in fetuses with PUV. We describe here the objectives and design of the prospective international multicentre ANTENATAL (multicentre validation of a fetal urine peptidome-based classifier to predict postnatal renal function in posterior urethral valves) study, set up to validate this fetal urine peptide signature. Methods Participants will be PUV pregnancies enrolled from 2017 to 2021 and followed up until 2023 in >30 European centres endorsed and supported by European reference networks for rare urological disorders (ERN eUROGEN) and rare kidney diseases (ERN ERKNet). The endpoint will be renal/patient survival at 2 years postnatally. Assuming α = 0.05, 1–β = 0.8 and a mean prevalence of severe renal outcome in PUV individuals of 0.35, 400 patients need to be enrolled to validate the previously reported sensitivity and specificity of the peptide signature. Results In this largest multicentre study of antenatally detected PUV, we anticipate bringing a novel tool to the clinic. Based on urinary peptides and potentially amended in the future with additional omics traits, this tool will be able to precisely quantify postnatal renal survival in PUV pregnancies. The main limitation of the employed approach is the need for specialized equipment. Conclusions Accurate risk assessment in the prenatal period should strongly improve the management of fetuses with PUV

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Pediatric Urolog

Substitution Phalloplasty in Patients With Bladder Exstrophy-Epispadias Complex: A Systematic Review of Techniques, Complications and Outcomes

BACKGROUND: Males born with bladder exstrophy-epispadias complex generally have a shorter phallus, split corpora with dorsal curvature, and a scarred and flattened glans, so substitution phalloplasty is often required.AIM: The aim of this study was to review the techniques, complications, and outcomes of substitution phalloplasty in bladder exstrophy-epispadias complex patients to determine the ideal surgical procedure and gauge the risks and benefits for the patient.METHODS: A systematic review of the literature was performed using PubMed/MEDLINE and the Cochrane Library with the following terms: ("phalloplasty"); (("epispadias") OR ("bladder exstrophy") OR ("cloacal exstrophy")). We included only full-text articles reporting data about techniques and outcomes of substitution phalloplasty in patients with bladder exstrophy-epispadias complex.OUTCOMES: To determine whether patients with bladder exstrophy-epispadias complex might benefit from substitution phalloplasty.RESULTS: We selected 7 studies involving 47 patients. All the studies were characterized by a low level of evidence and a heterogeneous approach during treatment and outcome assessment. The free radial forearm flap was the most commonly performed technique (89%) with an overall complication rate of 15%. Urethroplasty was performed in 22 of 47 (47%) patients, and in most cases (20/22) a "tube-within-the-tube" technique was performed simultaneously with the phalloplasty (20/47). Urethroplasty complications were recorded in 12 of 22 (54%) patients with 6 fistulae and 6 stenoses. A penile prosthesis was implanted in 32 of 47 (68%) patients and complications occurred in 8 of 32 (25%) patients with 6 erosion. Aesthetic, sexual, and psychological outcomes were satisfactory, but none of the studies used validated instruments for the final assessment.CLINICAL IMPLICATIONS: It was not possible to formulate any recommendations based on a high level of evidence regarding substitution phalloplasty in patients with bladder exstrophy-epispadias complex.STRENGTH & LIMITATION: To our knowledge, this is the first review to address bladder exstrophy-epispadias complex patients only. The limitations are mainly represented by the small number of cases because of the rarity of this disease and by the fact that no studies used validated instruments.CONCLUSION: Substitution phalloplasty in patients with bladder exstrophy-epispadias complex can achieve good functional, aesthetic, psychological, and sexual outcomes. It requires multiple procedures and carries a high complication rate. Multicentric studies including the assessment of patients by means of a validated questionnaire which investigates both sexual function and psychosexual satisfaction are required. Berrettini A, Sampogna G, Gnech M, etal. Substitution Phalloplasty in Patients With Bladder Exstrophy-Epispadias Complex: A Systematic Review of Techniques, Complications, and Outcomes. J Sex Med 2020;XX:XXX-XXX

Disorders of sex development: Summaries of long-term outcome studies

Existing outcomes for DSD individuals are inadequate because reports are based upon information collected retrospectively. This paper is presented to review existing data emphasizing information needed to lead to better future care, is based on presentations and discussions at a multi-disciplinary meeting on DSD held in Annecy in 2012, and is not intended to define the present status of management of each of the various DSD diagnoses. Rather it is intended to provide information needed to do studies regarding outcome data from the treatment of children with DSD by providing a summary of recommendations of 'patient-centered' topics that need investigation. The hope is that by being concerned with what is not known, new protocols will be developed for improving both early management and transition to adult life. (C) 2012 Published by Elsevier Ltd on behalf of Journal of Pediatric Urology Company

Review of recent outcome data of disorders of sex development (DSD): emphasis on surgical and sexual outcomes

This paper is a review of some of the recent publications regarding outcome of DSD patients, with an emphasis upon surgical and sexual outcomes. Currently available outcome studies of patients with DSDs have limitations because of multiple factors, including lack of representative patient sampling, and lack of adequate information concerning both medical and surgical care, and psychological, social and family support. The most frequent reports involve females with 21-alpha-hydroxylase deficiency congenital adrenal hyperplasia (CAH). This most common form of DSD, if one excludes hypospadias and cryptorchidism, is an excellent example of a form of DSD in which all aspects of outcome, regarding surgery, sexual functionality and sensitivity, psychological input and endocrine hormonal therapy, carry a major role. The goals of therapy include a surgical outcome with a good cosmetic appearance and functionality with potential for sexual intercourse with sufficient sensitivity for satisfactory responsiveness. Endocrine replacement therapy should provide a normal adrenal hormonal milieu, while sex steroid therapy may be indicated. Psychological care should be provided from birth with gradual transition primarily to the patient, including basic counseling with full disclosure, although adjustment depends upon the patient's personality and parents' abilities and acceptance. Among forms of DSD involving gonadal insufficiency, hormonal replacement therapy should provide physiologic levels. Among females, estrogen therapy enhances healing after feminizing surgery and is required from puberty throughout adult life to maintain femininity, sexual organs and bone health, and enhance gender and sexuality. Among males, appropriate testosterone therapy maintains stamina, muscle tone, bone health, libido, sexual potency and general well-being, while benefit for healing after genital surgery is unclear. Further, outcome is clearly related to predominant cultural factors. Outcome studies should include evaluation of all of these factors. (C) 2012 Published by Elsevier Ltd on behalf of Journal of Pediatric Urology Company

Lifelong congenital urology : the challenges for patients and surgeons

Context: Patients born with complex congenital genitourinary anomalies (including bladder exstrophy, cloacal exstrophy, epispadias, neurogenic bladder, hypospadias and posterior urethral valves) often require major reconstructive surgery in childhood. These conditions, their treatment and sequelae require lifelong follow-up. This has created the need for adult urologists to provide care as these patients grow into adults. Objective: To evaluate current strategies for transition and provide a current position statement with examples of the challenges faced by patients and their health care teams as a result of these conditions and their treatment. Evidence acquisition: Each of the authors was asked to provide a 500-word synthesis, based on current literature; to highlight the challenges faced in an area of their expertise. Evidence synthesis: The authors assembled in March 2018 to form a consensus based on the data gathered. The aforementioned sections were reviewed and following the consensus discussion the paper was formulated and reviewed. Conclusions: Lifelong care of congenital problems is challenging and essential for many but not all. Expertise is needed to provide the best care for patients and make the best use of resources. Specialist centres appear to be the most effective and safe model. In the long term it would be ideal to establish an evidence base focused on the common long-term problems with these conditions to ensure excellent care with appropriate expertise. Patient summary: Patients born with complex congenital anomalies of the genitourinary system require specialist care in childhood. Many will need lifelong care to manage their condition and the treatment of it. There is growing interest in this area of medicine and this consensus statement addresses the need for lifelong care in this group. The aim is to ensure that all patients that need care at any age are able to find what they need. (C) 2019 European Association of Urology. Published by Elsevier B.V. All rights reserved