"We the BE": An educational mobile health application for children and families affected by bladder exstrophy-epispadias-cloacal exstrophy complex.

GOALS: Despite the proliferation of over 45 000 smartphone mobile health applications (MHAs), as far as we know, there is no MHA for those living with rare diseases such as Bladder Exstrophy-Epispadias-Cloacal Exstrophy complex (BEEC). We hypothesized that an MHA could provide similar "on-demand" information and connectivity within health communities for patients with BEEC as they do for more common diseases. Thus, our primary goal was to create an MHA for patients and families affected by BEEC to provide them with important information about the condition and a format for them to connect with other affected patients and families. A secondary goal was to develop an adaptable MHA template for other rare diseases in the future. METHODS: We began our app development by examining existing common-disease MHAs for thematic structure. We conducted an extensive literature search of PubMed and Google scholar for MHA development and existing MHAs related to BEEC, utilizing these search terms: mobile health applications, rare diseases, bladder exstrophy, and online health communities. Our app development team began with our clinical multidisciplinary team of pediatric urologists; a child psychiatrist; a patient/family mental health therapist; and a certified nurse practitioner. We hired a website engineer and a production team. All clinical members have extensive experience caring for children and families affected by BEEC. Additionally, clinical team members compiled lists of themes deemed relevant from these reviews and themes gleaned from their clinical experience that appear with some frequency or urgency and from the myriad of themes discussed within the literature for MHAs. RESULTS: We found no existing rare disease MHAs in the literature or our search of app stores online. However, we derived basic app categories from existing MHA formats and the thematic content of all sources reviewed. These categories aligned with the groupings of our lists of clinical themes. Thus, we could subsume diverse themes within a broad categorical format: for example, child development (as "Psychological Development" in the app) or various clinical care options (as "Treatment"). This app structure became nine sections, as shown in. This format allows diverse information to be retrieved efficiently from broader categories. This app is being offered to affected families, healthcare providers, and individuals unrelated to where care is offered. CONCLUSION: "We the BE" is the first MHA developed for a rare disease, BEEC. It has been published in a downloadable format for the general public at no cost. Further research is required to determine its efficacy for the BEEC community members; preliminary, unsolicited feedback from multiple users has been positive.

Total and partial urogenital mobilization: focus on urinary continence.

PURPOSE: Total and partial urogenital mobilization procedures are the most common contemporary vaginoplasty surgeries for patients with congenital adrenal hyperplasia, urogenital sinus and cloacal anomalies. There is controversy regarding the urinary continence outcomes of these procedures. We reviewed the urinary continence outcomes of children who underwent total or partial urogenital mobilization at our institution and reviewed the literature to determine the continence rates of these procedures. MATERIALS AND METHODS: We retrospectively reviewed 25 patients who underwent total or partial urogenital mobilization with a focus on postoperative continence status. Continence was defined as parental report of full toilet training with no accidents during the day and rare accidents (fewer than 2 per month) at night after age 3 years. RESULTS: A total of 14 congenital adrenal hyperplasia, 5 urogenital sinus and 6 cloacal anomaly cases were managed by total (18) or partial (7) urogenital mobilization procedures with a mean followup of 4.41 years (range 0.21 to 12.1). In our cohort 21 of 22 patients (95.5%) were continent by age 3 years and there were no urinary complications. A total of 111 patients were identified in the literature with congenital adrenal hyperplasia or urogenital sinus, with 107 in 7 studies being continent (96.4%) by age 3 to 4 years. In 4 studies 32 patients were identified with cloacal anomalies who underwent total or partial urogenital mobilization, of whom 28 (87.5%) were continent by age 3 to 4 years. CONCLUSIONS: There was no significant difference between total and partial urogenital mobilization procedures regarding postoperative urinary continence in our cohort and the literature. The urinary continence rate was 96% in the congenital adrenal hyperplasia/urogenital sinus group and 89.5% in the cloacal group.

Suicide and suicidal ideation in classic exstrophy.

PURPOSE: Currently chronic illness is not a recognized risk factor for suicide in children. Therefore, we evaluated vulnerability for suicidal behavior (suicide attempt and suicidal ideation) in our population of young patients with classic bladder exstrophy. MATERIALS AND METHODS: We reviewed the charts of 121 patients 5 to 24 years old with classic bladder exstrophy only from a combined, 2-center database of 935. These patients were psychologically evaluated from 1996 to 2005 for preoperative readiness for urological surgery or for coping with medicosurgical health requirements. RESULTS: Of 121 patients 18 (14.9%) experienced suicidal ideation. Of 38 patients (31.4%) older than 14 years 11 experienced suicidal ideation, 2 experienced a serious suicidal attempt and 1 completed suicide. In 36 patients (30%) there were no recorded data on suicidal behavior. All patients with suicidal behavior were male. CONCLUSIONS: Data from this study of classic exstrophy imply that there are clinically significant vulnerabilities for suicidal behavior in affected male children, adolescents and young adults. These findings argue for screening those with classic exstrophy for suicidal behavior and psychopathology.

Discordant sexual identity in some genetic males with cloacal exstrophy assigned to female sex at birth.

BACKGROUND: Cloacal exstrophy is a rare, complex defect of the entire pelvis and its contents that occurs during embryogenesis and is associated with severe phallic inadequacy or phallic absence in genetic males. For about 25 years, neonatal assignment to female sex has been advocated for affected males to overcome the issue of phallic inadequacy, but data on outcome remain sparse. METHODS: We assessed all 16 genetic males in our cloacal-exstrophy clinic at the ages of 5 to 16 years. Fourteen underwent neonatal assignment to female sex socially, legally, and surgically; the parents of the remaining two refused to do so. Detailed questionnaires extensively evaluated the development of sexual role and identity, as defined by the subjects' persistent declarations of their sex. RESULTS: Eight of the 14 subjects assigned to female sex declared themselves male during the course of this study, whereas the 2 raised as males remained male. Subjects could be grouped according to their stated sexual identity. Five subjects were living as females; three were living with unclear sexual identity, although two of the three had declared themselves male; and eight were living as males, six of whom had reassigned themselves to male sex. All 16 subjects had moderate-to-marked interests and attitudes that were considered typical of males. Follow-up ranged from 34 to 98 months. CONCLUSIONS: Routine neonatal assignment of genetic males to female sex because of severe phallic inadequacy can result in unpredictable sexual identification. Clinical interventions in such children should be reexamined in the light of these findings.

Gender identity and sex-of-rearing in children with disorders of sexual differentiation.

AIM: To compare declared sexual identity to sex-of-rearing in individuals with disorders of sexual differentiation. METHODS: All 84 patients > or =5 years old in a pediatric psychosexual development clinic were assessed for sex-of-rearing and sexual identity. Diagnoses included 1) male-typical prenatal androgen effects but an absent or severely inadequate penis - 45 patients with cloacal exstrophy or aphallia; 2) inadequate prenatal androgens and a Y-chromosome - 28 patients with partial androgen insensitivity (pAIS), mixed gonadal dysgenesis (MGD), hermaphroditism, or craniofacial anomalies with genital ambiguity; 3) inappropriate prenatal androgen effects and a 46,XX karyotype - 11 patients with congenital adrenal hyperplasia (CAH). RESULTS: Of 73 patients with disordered sexual differentiation and a Y-chromosome, 60 were reared female; 26 of the 60 (43%) declared female identity while 32 (53%) declared male identity including 18 (55%) with cloacal exstrophy, six (55%) with MGD, four (40%) with pAIS, one (50%) with aphallia, one (100%) with hermaphroditism, and two (67%) with craniofacial anomalies; two (3%) declined to discuss identity. Nine of 11 patients with CAH and a 46,XX karyotype were reared female and two reared male; six (55%) declared female identity and five (45%) declared male identity. Of 84 total patients, 69 were reared female, but only 32 lived as female, while 29 lived as male; four patients refused to discuss sex-of-living; parents of four patients rejected their declarations of male identity. All 15 patients reared male lived as male including two genetic females. CONCLUSION: Active prenatal androgen effects appeared to dramatically increase the likelihood of recognition of male sexual identity independent of sex-of-rearing. Genetic males with male-typical prenatal androgen effects should be reared male.

Psychosexual development in genetic males assigned female: the cloacal exstrophy experience.

Genetic males who have cloacal exstrophy, a rare, severe pelvic field defect that leads to aphallia, traditionally have been socially, legally, and surgically sex-assigned female at birth and reared female, despite a male karyotype and a typical male prenatal hormonal milieu. Psychosexual development in such children previously has been unknown. Studies of 29 children revealed that despite the absence of the typical postnatal and pubertal androgen surges and the presence of female genitalia, all female-assigned subjects displayed a marked male-typical shift in psychosocial and psychosexual development. Nearly half of them have declared themselves male. Psychosexual development, including gender identity, in genetic and hormonal male neonates seems to be influenced heavily by prenatal androgen exposure. The clinical practice of surgical sex assignment at birth requires re-evaluation.

Situating unusual child and adolescent sexual behavior in context.

There is a lack of scientific knowledge concerning what constitutes normal versus unusual sexual behaviors among minors. Clinical judgements in these cases often are clouded by unfounded sociocultural assumptions, personal biases, legal issues, and moral considerations. Current diagnostic nomenclature that is used commonly for adult sexual activities is inappropriately applied to minors. Considerations about unusual sexual interests (ie, frequency of sexual behaviors, difficulties controlling sexual expression,consent, nonheterosexual interests, much older or younger partners, atypical sexual stimuli, number of partners, and sexual abuse) are explored to provide perspective for evaluation.

Thoughts on the nature of identity: how disorders of sex development inform clinical research about gender identity disorders.

Disorders of sex development (DSD), like gender dysphoria, are conditions with major effects on child sexuality and identity, as well as sexual orientation. Each may in some cases lead to change of gender from that assigned neonatally. These similarities-and the conditions' differences-provide a context for reviewing the articles in this issue about clinical approaches to children with gender dysphoria, in relation to assessment, intervention, and ethics.

Proximal hypospadias repair outcomes in patients with a specific disorder of sexual development diagnosis.

Boys with undermasculinized external genital and/or 46,XY disorders of sex development (DSD) often receive masculinizing genitoplasty. Such procedures are done to correct ventral curvature of the phallus, reposition a proximally located urethral meatus, and cosmetically correct the appearance of labioscrotal folds. No studies to date have assessed if patients with a specific DSD diagnosis have worse outcomes for severe proximal hypospadias procedures or whether or not these patients require more extensive surgical maneuvers than severe proximal hypospadias patients without a specific DSD diagnosis. We retrospectively reviewed consecutive proximal hypospadias repairs performed at our institution from 1998 to 2010 and compared the anatomy, surgical technique required for repair, and outcomes in patients with and without a definitive DSD diagnosis. Boys with a specific DSD diagnosis do have significantly more atypical anatomy when undergoing proximal hypospadias masculinizing genitoplasties. They are more likely to require associated gonad procedures but do not have an increased risk of complications or number of surgeries when compared to other proximal hypospadias patients without a specific DSD diagnosis. The risk of complications is consistent with reports in the literature, and the mean number of procedures in this contemporary study is fewer than in historic reports.

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-α-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.

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.

A model of delivering multi-disciplinary care to people with 46 XY DSD.

In 2006, a consensus statement was jointly produced by the Lawson Wilkins Pediatric Endocrine Society (LWPES) and the European Society of Paediatric Endocrinology (ESPE) concerning the management of disorders of sex development (DSD) [1]. A recommendation provided by this consensus was that evaluation and long-term care for people affected by DSD should be performed at medical centers with multi-disciplinary teams experienced in such conditions. Here we provide our team's interpretation of the 2006 consensus statement recommendations and its translation into a clinical protocol for individuals affected by 46 XY DSD with either female, or ambiguous, genitalia at birth. Options for medical and surgical management, transitioning of care, and the use of mental health services and peer support groups are discussed. Finally, we provide preliminary data to support the application of our model for delivering multi-disciplinary care and support to patients and their families.

A brief primer for pediatric urologists and surgeons on developmental psychopathology in the exstrophy-epispadias complex.

Developmental psychopathology is common in children with exstrophy. It may be mild or severe, and it may persist or transform as the child grows. The pediatric urologist is ideally situated to identify signs or symptoms of early developmental psychopathology in these children. Presented in this article are techniques for identifying the child requiring full assessment and for establishing referral-consultants. Screening instruments are suggested, as well as how to use these to educate the parents and the child. Methods are provided to identify, as well as to educate, selected consultants in child psychology and psychiatry about the clinical realities of exstrophy.

Thoughts on the nature of identity: disorders of sex development and gender identity.

Children with disorders of sex development have similarities to, but also marked contrasts with, children with normal anatomy but who have gender dysphoria. Understanding gender identity development in children with sex disorders will probably help us understand typical gender identity development more than in understanding gender development in children with gender identity disorder.