Considerations and Outcomes for Adolescents and Young Adults With Cloacal Anomalies: A Scoping Review of Urologic, Colorectal, Gynecologic and Psychosocial Concerns.

The objective of this scoping review is to provide a summary of the current literature regarding adolescents and young adults with histories of cloacal anomalies. Preferred Reporting Items for Systematic Reviews and Meta-analysis Extension for Scoping Reviews were used. Data were categorized into four domains-urologic, colorectal, gynecologic/obstetric, and sexual/psychosocial. The current literature has poor study quality and mostly consists of retrospective studies of small cohorts with varying definitions of outcomes. Women with cloacal anomalies are at high risk for urologic dysfunction but can maintain kidney health and achieve social continence with medical and surgical management. Sexual function and adult healthcare transition are areas ripe for improved future research.

Psychosexual development management of bladder exstrophy epispadias in complex patients.

INTRODUCTION: Bladder-exstrophy-epispadias complex (BEEC) represents a spectrum of urogenital step-wise malformations: epispadias, complete exstrophy, and cloacal exstrophy. Psychosexual development in adolescent patients with BEEC may become especially problematic. At present, there are few contributions in the literature investigating the validity of psychosexual treatment in order to tackle this particularly emotional and personal development phase. OBJECTIVE: The study aimed at verifying the efficacy of an intervention methodology for psychosexual support of a group of adolescents with BEEC. The main goal of the intervention program was to educate the adolescents and re-frame how they see themselves or feel about themselves, especially in relation to BEEC. In particular it was predicted that the program could: (1) improve the perception of pleasure concerning the body, particularly regarding the genital area, giving proper and specific information on pleasure, masturbation and medical history of BEEC; and (2) elicit a more relational-affective perspective on sexuality. STUDY DESIGN: 13 adolescent patients took part in the 1-year program. The effects of the intervention program were verified through a test-retest methodology using Sexuality Evaluation Schedule Assessment Monitoring (SESAMO). RESULTS: The results showed that participants changed their attitude in several psychosexual areas, more specifically: psycho-environmental situations, body experience, areas of pleasure, medical and sexual history, and motivation and conflict areas (Summary Table). DISCUSSION: This study demonstrated, for the first time, that a targeted program may significantly improve the psycho-sexual condition of adolescents with BEEC. In particular, this research showed that adolescents need to be able to discuss and tackle topics of a psychological and sexual nature, as well as receive understandable answers that can be put into practice in their everyday lives. The study had several methodological limitations, especially owing to the limited number of participants, the absence of a follow-up period of a few months after the intervention, and the overall exploratory nature of the program. CONCLUSION: This intervention methodology may be considered a first attempt at improving the self-esteem of adolescents with BEEC, by contrasting forms of psychological difficulties in order to improve the quality of life of these young people.

Leading contributors to success of transitional urology units.

PURPOSE OF REVIEW: There is increasing recognition of the need for life-long care in patients who have congenital urological anomalies. This study looks at the factors surrounding transition and suggests those, which may improve the success. RECENT FINDINGS: One of the most challenging phases in this care is adolescence. There are the physical and psychological changes that all adolescents go through. Patients need medical surveillance through this time in order to ensure good care and patient safety. For affected patients there are other major challenges - first the relationship of their underlying condition, its treatment and the effect that either of these will have on their relationship with normality. The second big challenge is that in the midst of these changes our patients have to move from a paediatric to an adult centred environment.Transition is the term used to define the gradual shift of healthcare responsibility from the parents to the patient and all the factors above will affect this important time in life and care. SUMMARY: Transition can be a challenge to both patients and the healthcare team. The key to success is a strong multidisciplinary team to try and maintain patient engagement.

A Review of Pediatric Chronic Kidney Disease.

Chronic kidney disease is complex in both adults and children, but the disease is far from the same between these populations. Here we review the marked differences in etiology, comorbidities, impact of disease on growth and quality of life, issues unique to adolescents and transitions to adult care, and special considerations of congenital kidney and urinary tract anomalies for transplantation.

Clinical outcome of cloacal exstrophy, current status, and a change in surgical management.

INTRODUCTION: Cloacal exstrophy is a complex and rare congenital malformation. Because of improvements in medicine, operative techniques, and perioperative management the survival rates are now approaching 100%. Currently, treatment is focused on improving quality of life. Since 1974, we encountered 20 patients with cloacal exstrophy in our hospital. The aim of this study is to evaluate our clinical experience and outcome during the last 39 years. PATIENTS AND METHODS: A retrospective study of the medical records was performed. We evaluated anatomical status, phenotype and genotype at birth, subsequent surgical treatment and current gastrointestinal, urinary, spinal, genital, and gender status and outcome. RESULTS: The records of all 20 patients who were treated in our center were included in this study. Of the 20 patients, 18 were primary patients, 2 referred. Six patients died within the first year of life. Median age of the surviving 14 patients was 25 years (range, 4-39 years) at time of evaluation. At the last follow-up, 11 patients had an endileostomy or endcolostomy. Three patients had a pull-through; two of them were continent for feces. Two patients were continent for urine; one with a sinus urogenitalis and one after urethra reconstruction. Eleven patients are incontinent; six of them had an incontinent urinary deviation (Bricker deviation). Of the other five incontinent patients, two had a urethral reconstruction, one vesicovaginal anastomosis, one perineotomy, and one epispadias bladder. Urinary continence was unknown in one patient. Of the surviving patients, nine have 46 XY karyotype and five 46 XX karyotype. Initially, six XY patients underwent external genital reconstruction with reassignment to female gender; however, one died postoperatively. One declared to feel like a man at age of 15 years. Remaining four XY patients underwent male external genital reconstruction. All XX patients underwent vagina or vulva reconstruction, except for one who still has aplasia vaginae. All patients were born with varying types of spinal dysraphism. DISCUSSION: Despite medical efforts and development in treatment and support, satisfaction in outcome of cloacal exstrophy remains a challenge. Although reconstruction may be very difficult, male genital reconstruction in 46 XY patients has been given preference for more than a decade. A specialized multidisciplinary team should provide lifelong colorectal, urological, sexual, and psychosocial support to these patients, taking into account their age and phase of life.

Experiences of surgical continence management approaches for cloacal anomalies: a qualitative analysis based on 6 women.

STUDY OBJECTIVE: The aim of this qualitative study was to gain insight into health care experiences of young women diagnosed with cloacal anomalies, with a special focus on continence management. DESIGN: Qualitative analysis of one-to-one interviews. SETTING: A tertiary center for congenital anomalies of the urogenital tract in London. PARTICIPANTS: Six women aged 16 to 24 with cloacal anomalies. INTERVENTIONS: Tape-recorded one-to-one semi-stuctured interviews with a skilled interviewer. MAIN OUTCOME MEASURE(S): The taped interviews were transcribed and analyzed verbatim using interpretative phenomenological analysis according to the research question. Organizing themes across all of the accounts were identified. RESULTS: Two organizing themes concerning our research interests are summarized. The first theme Personal Agency in the Hands of Experts focuses on the interviewees' appreciation of their life-saving surgical care and their involvement in treatment decisions. The second theme Compromises and Trade-Offs focuses on what it was like to live with the more traditional versus the more advanced continence methods. Reliability emerged as a key priority in terms of continence treatment outcome. Gratitude may have interfered with the women's honest communications during treatment decision and evaluation consultations. CONCLUSIONS: A more developed approach to communication about the complex interventions proposed, founded on a nuanced understanding of users perspectives, can enhance informed decision making about continence management approaches. Despite these specific gaps, the interviewees were appreciative of their care and optimistic about life.

Adolescent urology: developing lifelong care for congenital anomalies.

Complex congenital urological anomalies often necessitate ongoing clinical and surgical management as patients reach adulthood and beyond. However, adolescent and lifelong care of such conditions is a relatively new urological specialty, and approaches to transitional health care require further development. Thus, although literature relating to the use of such approaches in urology are lacking, we are able to draw upon experience of models from other specialties. Urological anomalies might complicate an individual's development, particularly during adolescence, which represents a time of rapid and considerable change in most aspects of life. During this period, increased independence and responsibility, necessitating a shift from parent-driven to patient-driven care, and the desire to develop important and intimate social relationships can affect a patient's ability to cope with, and manage, disease. These factors also influence the ability of health-care providers to deliver adequate treatment. In particular, consideration of the effect of a condition or its treatment on the patient's capacity to live a normal life is important. A multidisciplinary approach is essential to overcoming these issues. Furthermore, diagnostic and treatment registries, as well as an increase in the number of adult-focused urologists willing to participate in the transition of patients from paediatric to adult care, are needed to enable provision of optimal patient care for the future.

Pregnancy and postpartum following a prenatal diagnosis of fetal thoracoabdominal malformation: the parental perspective.

PURPOSE: The study's aim was to evaluate how information related to a prenatal diagnosis of fetal malformation could modify parenthood experience descriptions during pregnancy and after the child's birth. METHODS: A longitudinal case-control clinical study was conducted. Data on parenthood experience descriptions collected using a validated semantic differential technique during pregnancy and after the child's birth were compared between seven couples of parents receiving a prenatal diagnosis of fetal malformation and seven couples without any fetal diagnosis. RESULTS: Our results show that during pregnancy parents in the clinical group describe themselves as more fragile, passive, and timid [p=0.007] than those in the control group. On the other hand, after the child's birth, there are no significant differences between groups. CONCLUSIONS: Data are discussed with reference to better knowledge of the psychological dynamics involved in becoming a parent and to rational planning of support for parents receiving a diagnosis of fetal malformation.

Identidade cirúrgica: o melhor interesse da criança intersexo portadora de genitália ambígua. Uma perspectiva bioética / Surgical identity: the best interest of the intersex child with ambiguous genitalia. A bioethical perspective

Sob a perspectiva da bioética da proteção esta tese tem como objetivo investigar se ascirurgias genitais realizadas em crianças recém-nascidas diagnosticadas como intersexo,portadoras da chamada “genitália ambígua” – uma das “anomalias da diferenciação sexual”(ADS) -, atendem, de fato, a seu melhor interesse. De acordo com a crença médica, énecessário normalizar e ajustar a anatomia do neonato ao padrão morfológico condizentecom o sexo que for “descoberto” pela equipe multidisciplinar, na medida em que é a suaatipicidade anatômica o que dificultaria a pronta afirmação de seu sexo. Em geral, a equipemédica recomenda a imediata realização desses procedimentos por acreditar que o bemestarpsicossexual da criança não será alcançado se houver incongruência entre o fenótipode sua genitália e a identidade de gênero correspondente que, espera-se, desenvolverá.Dada a incapacidade cognitiva do neonato, cabe a seus responsáveis consentirem pelarealização dessas cirurgias irreversíveis. O caso John/Joan, conduzido pelo psicólogo JohnMoney desde 1967, é aqui examinado. Sua utilização para testar a teoria da “plasticidade degênero” que Money e equipe vinham desenvolvendo desde a década de 1950, acabou portransformá-la no paradigma para os casos de mutilação genital e anomalias congênitas emcrianças em boa parte do planeta. Contudo, nos Estados Unidos da América, a partir dasegunda metade da década de 1990, pessoas adultas que haviam sido submetidas a essasmesmas intervenções em sua infância e adolescência começaram a relatar seu sofrimentopsicossexual, o qual, supostamente, seria atribuído às tais cirurgias genitais nelas realizadas. (...)

Based upon the bioethics approach, this thesis aims to investigate whether or not genitalsurgeries on newborn children diagnosed as "intersex", due to their "ambiguous genitalia" -one of the "disorders of sexual development" (DSD) - will undeniably be to their "bestinterest". In accordance with medical belief, it is necessary to normalize and adjust thenewborn's anatomy, in order to conform with the morphological standard of one "sex"only; that is, that of a male or a female. Generally, according to the multi-professional teamin charge, every intersex newborn has a "hidden" sex in his/her body, which, though notobvious, must be "found". In most cases of ambiguous genitalia, the newborn immediatelyundergoes genital surgery, due to a belief that no psychosexual well-being will beexperienced by that child as long as there is some incongruence between his/her genitaliaand the gender identity he/she will come to develop. Moreover, the therapeutics prescribedby the multi-professional team must be conducted upon consent of the newborn's parents,due to his/her lack of cognitive, legal and moral capacity. The infamous John/Joan case -presented to academics and medical professionals in the early 70's by the psychologist JohnMoney - is also examined here, for the relevance of Money's "theory of gender plasticity"consecration by Medicine, in most Western countries, as the paradigm for cases dealingwith children's genital mutilation and congenital disorders. Notwithstanding, initially, in theUnited States, from mid-1990's on, intersex adults started to voice their psychosexualdissatisfaction and suffering, supposedly as the result of genital surgeries they underwentthroughout their infancy and adolescence years.

Complex gynaecological and urological problems in adolescents: challenges and transition.

The diagnosis and early management of genitourinary disorders in children is challenging for the child, parents and carers. There have been enormous developments in paediatric care medically and surgically and as a result many patients with complex anomalies reach adult life and have a normal desire for a good quality of life. Adolescence changes the challenges faced as anatomical growth may alter the surgical outcomes both functionally and cosmetically. Emotional and psychological development also creates important challenges that all those involved have to face. These patients need expert care and advice throughout adolescence and into adult life. This should be delivered by a multidisciplinary team that includes urology, gynaecology, nephrology, endocrinology and psychology. This creates a safe clinical and supportive environment for patients and their families.

Pediatric psychology in genitourinary anomalies.

Children with genitourinary anomalies are at risk for developmental and adjustment challenges. Pediatric psychologists can address the needs of these children within the urology clinic through focusing on assessment, intervention, and prevention of psychosocial problems associated with their urologic diagnosis. Care is optimized if surgeons and mental health providers work together to care for this challenging group of patients.

[Functional outcome in children with Hirschsprung's disease or imperforate anus]. / Funktioneller Outcome von Kindern mit Morbus Hirschsprung und Analatresie.

Various outcomes following operative therapy for Hirschsprung's disease and anorectal malformations have been reported. Operative techniques for anorectal reconstruction have been modified several times in the past. Repair of anorectal -malformations have been performed through a posterior sagittal approach since the 1980s. This -allows an anatomically correct reconstruction of the anorectal canal. Abdominoperineal or sacro-abdominoperineal pull-through procedures, as the classical operative techniques, have been abandoned by most surgeons. Rectosigmoid-ectomy with colo-anal anastomosis, as described by Swenson and Bill in 1948, as well as the retro-rectal pull-through (Duhamel) and the endorectal pull-through (Soave) are still frequently used in surgery for Hirschsprung's disease. The development of the transanal endorectal pull-through with (Georgeson) or without (de la Torre) laparoscopic assistance has eliminated the necessity of laparotomy in selected cases. Despite significant progress in the understanding of the pathophysiology of and therapy for Hirschsprung's dis-ease and anorectal malformations, the functional results remain unsatisfactory. Functional problems occur already in early childhood and de-crease the quality of life significantly. Although complications resolve with time and the quality of life normalises in adolescence and adulthood, this might be mainly due to an adaptation strategy by the patients. For the future, a standardised and prospective study design is necessary to compare different procedures and to provide a basis for the further development of therapeutic strategies.

Reduction clitoro-labioplasty versus clitoro-labiectomy in managing adult onset clitoro-labiomegaly.

OBJECTIVES: To compare a new procedure of reduction clitoro-labioplasty to clitoro-labiectomy in the management of adult onset clitoro-labiomegaly, and to show the disadvantages of the latter procedure that produces female genital mutilation and sexual dysfunction. METHODS: This controlled, descriptive, comparative and prospective cohort study was performed at Kasr El-Aini School of Medicine, Cairo University, Egypt. 47 cases of clitoro-labiomegaly, 12 with known causes of intersex, were diagnosed and treated by reduction clitoro-labioplasty. In addition, a control group of 53 more cases, 6 with known causes of intersex, were followed after treatment by clitoro-labiectomy. Clitoro-labioplasty was performed by excision of the anterior part of the fused corpora after separation at the glans-corporal junction and a reduction in the size of the remaining part of the corpora to reform a normal clitoral size. The neurovascular bundles were essentially preserved during this procedure. The protruded parts of the labia minora are then excised to preserve their normal dimensions. The main outcome measures were the postoperative anatomical result, patient's satisfaction, the pre- and postoperative sex scoring, and sexuality. RESULTS: Restoration of normal anatomy was successfully obtained after clitoro-labioplasty compared to partial or complete loss of these sensitive parts after clitoro-labiectomy. In addition, significant operative and postoperative complications were recorded in 27 cases with clitoro-labiectomy compared to none of the clitoro-labioplasty cases. The sex scores and sexuality improved significantly after the clitoro-labioplasty operation compared to clitoro-labiectomy (p < 0.005). Normalization of the sex scores and sexuality was found to be significantly related to preservation of critical clitoral length necessary for producing clitoral orientation and interest in sexuality. CONCLUSION: The new clitoro-labioplasty technique is able to preserve proper clitoral and labial anatomy and restore normal sexuality. Therefore it must be considered an essential line of treatment for clitoro-labiomegaly.

An assessment of health related quality of life using the child health and illness profile-adolescent edition in adolescents with chronic kidney disease due to underlying urological disorders.

PURPOSE: We examined health related quality of life in adolescents with congenital urological disease causing kidney disease using a generic health related quality of life instrument. We then compared the results to those in adolescents with medical kidney disease and to population based norms. MATERIALS AND METHODS: The Child Health and Illness Profile-Adolescent Edition was administered to 113 patients 10 to 18 years old with chronic kidney disease. Mean domain and subdomain scores for adolescents with urological disease were compared to those of adolescents with medical kidney disease and to population based norms. RESULTS: The cohort included adolescents with an underlying diagnosis of congenital urological anomaly (37 patients) or other causes of kidney disease (76). Compared to adolescents with kidney disease caused by other factors, those with congenital urological disease scored statistically significantly better in the Child Health and Illness Profile-Adolescent Edition subdomain of Limitations of Activity (mean 22.3 [SD 2.5] vs 20.4 [SD 5.0], p = 0.04). Compared to population norms, adolescents with congenital disorders scored lower in the Disorders domain (mean 16.5, 95% CI 14.2 to 18.9) but better in the Risks domain (mean 25.9, 95% CI 25.1 to 26.6) and in the Home Safety and Health subdomain (mean 25.2, 95% CI 23.7 to 26.6). CONCLUSIONS: As assessed by the Child Health and Illness Profile-Adolescent Edition generic health status questionnaire, adolescents with kidney disease due to underlying congenital urological disease had fewer limitations of activity compared to those with underlying medical kidney disease. Except for low scores in the Disorders domain, children with underlying urological disease did not have significant impairments in any other domain compared to population based norms.

Assessment of sexual functioning, mental health, and life goals in women with vaginal agenesis.

Vaginal agenesis is a congenital disorder defined by the incomplete formation of the vagina and other reproductive organs, often including the cervix, uterus, and fallopian tubes. For the patient, this frequently means infertility and an underdeveloped vagina with the subsequent difficulty to have vaginal intercourse. The patient with vaginal agenesis and her family then encounter a variety of psychological concerns that must be addressed during diagnosis, including weighing treatment options, managing interventions, and coping with long-term issues following diagnosis and treatment, such as partnership concerns and infertility. In this study, seven patients between the ages of 18 and 34 completed questionnaires assessing demographic information, sexual functioning, mental health, self-esteem, and life goals. Sexual functioning results were highly variable. Participants reported significant emotional reactions at diagnosis as well as anxiety about the disorder, specifically its role in relationships. However, overall, the group showed average levels of mental health and self-esteem. Participants also showed positive coping techniques through conceptualization of life goals.

Dilation as treatment for vaginal agenesis and hypoplasia: a pilot exploration of benefits and barriers as perceived by patients.

Reconstructive surgery has been the traditional treatment for the short vagina. Recently vaginal dilation has been recommended due to its low morbidity. Small retrospective studies have reported success rates of up to 80% but include neither clear definitions of "success" nor exploration of factors associated with compliance and outcome. The first 10 women prescribed vaginal dilation treatment at a specialist gynaecological clinic during the study period were interviewed and asked to complete the Multi-dimensional Sexuality Questionnaire (MSQ), with an assessment of perceived vaginal characteristics. The participants scored lower scores on sexual esteem, sexual assertiveness and sexual satisfaction and higher scores in sexual anxiety, sexual depression and fear of sexual relationships in comparison with the standardisation sample. Dilator treatment must be subject to the same scrutiny as any intervention. Vaginal dilation can have a negative emotional impact on women and psychological intervention may be needed to maximise efficacy.

Long-term outcomes of anorectal malformations.

Anorectal malformations (ARMs) and cloacal anomalies are rare and complex malformations of the lower gastrointestinal and genitourinary tracts. They affect approximately 1 in 3,500 live births. The treatment of these patients has traditionally focused on achieving urinary and faecal continence, with preservation of renal function. With improved surgical techniques and paediatric intensive care facilities, these patients now live relatively normal lives, with a near-normal life expectancy. Comparing results reported by different surgeons is difficult because a wide range of terminology is employed to describe the anomalies encountered. This paper attempts to simplify some of the reported outcomes of bowel function to allow a more direct comparison between groups. Urinary outcomes were not so easily comparable due to the disparity in assessing patient outcomes. Therefore, before a global analysis of all groups can take place, a standardised terminology will be necessary. At present there is a gap in the published literature of comprehensive follow-up in this group of patients, particularly regarding reproductive and sexual functioning. More detailed information on long-term outcomes is needed in these patients to facilitate informed decision-making by the primary physician (usually the paediatric surgeon) and the parents on behalf of their child.