Consensus Statement on Management of Intersex Disorders
Clinical management of individuals born with intersex conditions has been in a state of flux in recent years. Working groups, comprised of 50 international experts, members of the Lawson Wilkins Pediatric Endocrine Society (LWPES) and the European Society for Paediatric Endocrinology (ESPE), convened in Chicago in October 2005 to formulate a consensus document derived from an evidence-based literature review.
Nomenclature and Definitions
Disorders of sex development (DSD), defined as “congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical,” was recommended to replace potentially confusing and stigmatizing terms such as intersex, pseudohermaphroditism, hermaphroditism, and sex reversal, as well as gender-based diagnostic labels such as male/female pseudohermaphroditism.
Psychosexual development, conceptualized as gender identity, gender role, and sexual orientation, was defined and noted to be influenced by factors including androgen exposure, sex chromosome genes, brain structure, social context, and family dynamics.
Gender dissatisfaction denotes unhappiness with assigned sex; occurs more frequently in individuals with DSD than in the general population, but is difficult to predict from karyotype, prenatal androgen exposure, degree of genital virilization, or assigned gender.
Investigation and Management of DSD
General concepts of care. Optimal clinical management of individuals with DSD avoids gender assignment in newborns before expert evaluation. Such evaluation and long-term management occurs at centers with an experienced multidisciplinary team openly communicating with patients and families, allowing them to participate in decision making, and respecting and addressing patient and family concerns in confidence.
The multidisciplinary team. Optimal care for children with DSD requires an experienced multidisciplinary team generally found in tertiary care centers, ideally including pediatric subspecialists in endocrinology, surgery or urology, psychology or psychiatry, gynecology, genetics, and neonatology. The consensus group made broad procedural recommendations for team operation, including the desirability of having one professional with appropriate communication skills interact with the family. Consistent with the “medical home” concept for children with special health care needs, ongoing communication with the family primary care physician is essential.
Clinical and diagnostic evaluations. Clinical evaluation includes a family and prenatal history, a general physical examination with attention to dysmorphic features, and assessing the genital anatomy compared with published norms. Diagnostic algorithms do exist, but given the spectrum of findings and diagnoses, no single evaluation protocol was recommended; though first-line testing in newborns was outlined.
Gender assignment in newborn infants. Initial gender uncertainty is stressful for families; thus, expediting a thorough assessment and decision is required. Gender assignment recommendations should reflect the diagnosis, genital appearance, surgical options, need for life-long replacement therapy, potential for fertility, and family views and cultural background.
Surgical management. Surgeons are responsible to outline the surgical sequence and sequelae from infancy to adulthood. Only surgeons with expertise in caring for children and specific training in DSD surgery should undertake these procedures. Surgery should only be considered in cases of severe virilization (Prader III–V). Emphasis is on functional outcome rather than cosmetic appearance. Systematic evidence is lacking to support the contention that surgery performed for cosmetic reasons in the first year of life relieves parental distress and improves attachment between the child and the parents. Timing of surgeries, with attention to the condition and surgical procedure, were discussed. Surgical management should take into consideration options facilitating the chances of fertility. Because of limitations in penile reconstruction, the magnitude and complexity of phalloplasty in adulthood should be taken into account during the initial counseling period if successful gender assignment depends on this procedure. Families should be given realistic expectations about penile reconstruction, including the use of tissue engineering.
Sex steroid replacement. Hypogonadism is common in patients with dysgenetic gonads, sex steroid biosynthesis defects, and androgen resistance. Timing of pubertal initiation may vary and provides opportunities to discuss the condition and set a foundation for long-term treatment adherence.
Psychosocial management. Psychosocial care provided by mental health staff with expertise in DSD should be an integral part of management to promote positive adaptation as well as facilitate team decisions about gender (re)assignment, surgery timing, and sex hormone replacement. The process of disclosure of all aspects of the DSD and its clinical care should be collaborative, on-going and planned with the parents from the time of diagnosis. Medical education and counseling is a recurrent gradual process of increasing sophistication that takes into account the patient’s changing cognitive and psychological development. Quality of life encompasses falling in love, dating, ability to develop intimate relationships, sexual functioning, and the opportunity to marry and to raise children, regardless of biological indicators of sex. Because of fears of rejection in intimate relationships, a focus of psychological care should be interpersonal relationships. Frequent problems encountered in patients with DSD are sexual aversion and lack of arousability – often misinterpreted as low libido. Repeated examination of the genitalia, including medical photography, may be experienced as shaming and should be undertaken, whenever possible, when the patient is under anesthesia.
Outcome in DSD
As a general statement, information across a range of assessments is insufficient in DSD. Extant data were summarized in the report. With regard to surgical outcome, some studies suggest satisfactory outcomes from early surgery; however other studies on clitoroplasty identify problems related to decreased sexual sensitivity, loss of clitoral tissue, and cosmetic issues. Interpretation of published reports on the risk of gonadal tumors is hampered by unclear terminology and by effects of normal cell maturation delay. Concerning cultural and social factors, DSD may carry a stigma. Gender role change occurs at different rates in different societies, suggesting that social factors may also be important modifiers of gender role change. In some societies, female infertility precludes marriage, which also affects employment prospects and creates economic dependence. Religious and philosophical views may influence parents’ response to the birth of an infant with a medical condition.
Establishing a precise diagnosis in DSD is important. Much remains to be clarified about the determinants of gender identity in DSD. The consensus clearly identified a major shortfall in information about long-term outcome. Future studies should use reliable and valid instruments that assess outcomes in a standard manner which reflect guidelines relevant to all chronic conditions. Several countries have registries of DSD cases; there could be added benefit from pooling such resources to enable prospective multi-center studies.
Lee PA, Houk CP, Ahmed SF, Hughes IA, in collaboration with the participants in the International Consensus Conference on Intersex organized by the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology. Consensus statement on management of intersex disorders. Pediatrics. 2006;118:e488-e500.
The consensus statement is dense with information; this summary can only provide a glimpse into many of the topics covered. The reader is strongly encouraged to review the original article in its entirety. As a participant in the conference, which included clinicians, researchers, and representatives from the patient advocacy community, I was struck by the high level of collegiality during discussions previously marked by contentious debate. As a significant sign of convergence in thought among healthcare professionals and patient advocates, the consensus statement makes reference to the “Clinical guidelines for the management of disorders of sex development in childhood,” promulgated by the Consortium on the Management of Disorders of Sex Differentiation,1 in the context of a discussion of “optimal clinical management of DSD.”
With the consensus statement in hand, should we expect significant changes in clinical management of individuals with DSD? In some areas (eg, practices pertaining to the disclosure of medical information), changes likely began long before publication of the consensus. In other areas, however, change will be far more challenging. For example, I refer here to the development of fully integrated interdisciplinary healthcare teams, including mental health professionals. The section of the consensus statement titled Psychosocial Management begins with the recommendation that “psychosocial care provided by mental health staff with expertise in DSD should be an integral part of management to promote positive adaptation.” At present, there are at best a handful of programs around North America that can legitimately claim to have such services in place. There are many barriers to recruiting mental health specialists to DSD teams. Although the tendency to assume that lack of specialized expertise is the primary obstacle, a more rigorous analysis will likely reveal that financial considerations (ie, reimbursement for healthcare by insurers/third party payors) represent a key factor. Changing the model of care for patients with DSD (and their families) requires a coordinated strategy among healthcare providers, patient advocacy groups, and health insurance payors to ensure that the vision of multidisciplinary teams becomes a reality.
David E. Sandberg, PhD
References - (linked to )