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.

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.

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.

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.

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.

An Evidence-Based Model of Multidisciplinary Care for Patients and Families Affected by Classical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.

In 2002 a consensus statement pertaining to the management of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency was jointly produced by the Lawson Wilkins Pediatric Endocrine Society and the European Society of Pediatric Endocrinology. One of the recommendations of this consensus was that centers should maintain multidisciplinary teams for providing care and support to these patients and their families. However, the specifics for how this should be accomplished were not addressed in the original consensus statement. Here we interpret and translate the 2002 consensus statement recommendations into medical, surgical and mental health protocols. Additionally, we provide preliminary evidence that such protocols result in improved care and support for patients and families.

Successful removal of a penile constriction ring in a 14-year-old male.

Penile strangulation is a rarely described medical emergency, especially in the adolescent population. This case demonstrates the successful removal of a constricting metal ring from the penis of a 14-year-old male with a diamond blade equipped orthopedic oscillating saw while under ketamine anesthesia in the emergency department.

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.

Anxiety disorders in children with epispadias-exstrophy.

OBJECTIVES: To evaluate the hypothesis that anxiety disorders are common comorbid conditions in children with the epispadias-exstrophy complex. METHODS: Twenty consecutive outpatient exstrophy subjects ranging in age from 5 to 22 years were assessed using a formalized semistructured psychiatric evaluation and were categorized according to the Diagnostic and Statistical Manual of Mental Disorders, version IV, criteria. Disorders were identified if subjects endured moderate to severe impairment in their home, academic, and social environments. RESULTS: All 20 subjects met the criteria for at least one anxiety disorder; 19 met criteria for more than one anxiety disorder. The adolescent subjects described a gradual waning of some specific symptoms some time after surgical correction of the physical conditions (eg, incontinence) but intensifying sexual anxiety with age. CONCLUSIONS: The epispadias-exstrophy complex appears to be associated with clinically significant vulnerabilities for anxiety disorders in children.

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.

A 7-year experience of genetic males with severe phallic inadequacy assigned female.

PURPOSE: We examine the hypotheses underlying the clinical decision to assign female gender at birth in male neonates with severe phallic inadequacy. MATERIALS AND METHODS: A total of 18 genetic males with severe phallic inadequacy were assessed longitudinally for physical, social, psychological and sexual identity development. Diagnoses included cloacal (11) and classic (1) exstrophy, partial androgen resistance (3), mixed gonadal dysgenesis (2) and penile agenesis (1). Neonatal sex assignment was female in 15 and male in 3 patients. RESULTS: All patients demonstrated marked male typical behaviors and interests. Of the 15 female assigned patients 1 died, 1 refused to declare sexual identity or orientation, 1 converted to male before initial evaluation, 1 was reassigned male by the parents and 5 others declared male sexual identity. Thus, of 17 living patients 10 live as males and 6 as females. Of patients 17 years or older only those living as male lived independently. The 4 oldest patients living as male but only 1 patient living as female would discuss sexual orientation-all 5 declared orientation toward females, and 3 of these 4 males had girlfriends or were married. The sexually undeclared patient lived in a residential treatment center because of major behavioral difficulties since age 15. Only patients living as male had dated. CONCLUSIONS: This longitudinal study implies that males with severe phallic inadequacy reared male and those reared female but converting to male can have functional psychosocial developmental trajectories. Those reared female have a realistic likelihood of recognizing male sexual identity and converting to male. Those not converting to male appear to have less successful psychosocial developmental trajectories.