Abstract
It is clear that the major issues raised by the Chicago Disorders of Sex Development (DSD) Consensus meeting primarily the need of more data, especially outcome information, are still not available. Hence, there are insufficient data to merit another consensus statement. However, there has been a major shift in the thinking and approach to the care of patients with DSD. This was a consequence of the emphasis of the need to reconsider the criteria for sex assignment, to incorporate new genetic and hormonal knowledge in the care, and to investigate impact of surgical timing and techniques. Much of the reconsideration is in response to patient, family, social and legal demands, including the need for full disclosure and family or individual participation in decisions. Further, there remains a lack of sufficient information to provide predictors for future gender development. Hence, it still is impossible to develop specific clinical guidelines to apply to patients generally or individually. Thus, it is pertinent to periodically evaluate and assess some of these multifaceted changes. This report discusses cultural and social forces, legal factors, surgical perspectives, treatment shifts including psychological approaches, progress regarding genetic diagnosis, gender issue comparisons with transgender patients, and on-going research studies occurring since the consensus conference.
Highlights
The consensus report concerning Disorders of Sex Development (DSD) published in 2006 [1,2] was an collective attempt to summarize and evaluate available information about optimizing treatment for DSD and identifying areas where further study was warranted
The consensus report concerning DSD published in 2006 [1,2] was an collective attempt to summarize and evaluate available information about optimizing treatment for DSD and identifying areas where further study was warranted. It has been nearly a decade since the Consensus Conference which: 1) redefined a broad variety of developmental conditions involving the reproductive system as Disorders of Sex Development (DSD), 2) created a new nomenclature based largely upon karyotype, 3) recognized the need to reconsider the criteria for those etiologies in which sex assignment was unclear, 4) reviewed pertinent physical findings and summarized genetic and hormonal criteria for diagnosis, 5) discussed surgical approaches and timing, 6) evaluated gonadal development from the perspective of fertility potential and risk of tumor development, and 7) identified the need for outcome studies including quality of life for
Since the Consensus, focus has shifted to optimizing long-term well-being of people with DSD and their caregivers
Summary
The consensus report concerning DSD published in 2006 [1,2] was an collective attempt to summarize and evaluate available information about optimizing treatment for DSD and identifying areas where further study was warranted. A majority of surgeons report a preference for performing these procedures in patients younger than 2 years of age [60] This preference for early treatment, coupled with the fact that data are lacking on outcomes regarding genital cosmesis, sexual function and quality of life for children who do not receive such surgeries [62], contributes to some parents opting for early genitoplasty for their child. The disorders of sex development – Translational Research Network (DSD-TRN) –David Sandberg, Eric Vilain TRN [79] is an NICHD-supported network, currently comprising seven U.S medical centers, delivering interdisciplinary healthcare services to patients with DSD and their families following the principles of care outlined in the 2006 Consensus Statement [1,2] The objectives of this patient registry-based learning collaborative include: 1.
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