Funded by the NIH
PROJECT SUMMARY Differences (or Disorders) of Sex Development (DSD) is a superordinate term encompassing congenital conditions in which chromosomal, gonadal, or anatomic sex development is atypical. Adopting an inclusive definition, between 1 in 200 to 1,000 people are born with some degree of atypical sex development. Clinical management of DSD is in a state of flux with disagreements within and between professional, advocacy, and patient communities regarding optimal care. Advances in molecular diagnosis and surgical techniques, findings regarding psychological outcomes in affected persons, and patient advocacy group engagement, led to a consensus conference attended by international experts in the DSD field and patient advocacy. Consensus recommendations included changes to diagnostic and clinical management strategies and in nomenclature that eliminated terms considered confusing and stigmatizing; e.g., “intersex,” “hermaphroditism,” “pseudohermaphroditism,” and “sex reversal.” While scientific and medical communities rapidly adopted the new nomenclature, vocal patient community elements strongly opposed the word “disorder” - experiencing it as unnecessary pathologization of atypical bodies that contributes to the perceived need for potentially harmful surgical “normalization” procedures. Some affected adults now prefer the term “intersex” - referring to an identity, rather than a medical condition. Further, little agreement exists across provider, advocacy, and patient communities regarding what constitutes optimal care for patients and families. Clinical management topics triggering contentious debate include decision- making over gender of rearing, genital surgery and its timing, gonad removal, and disclosing diagnostic details to patients. Evidence of these controversies exists in medical literature, social media, and courts of law, yet a remarkable lack of discussion, much less consensus, exists on how stakeholders value various outcomes. There has yet to be a study designed to systematically examine how patients, parents, healthcare providers, and other stakeholders differentially define and value optimal DSD health care delivery. The proposed study has the following aims: (1) Assess the importance ascribed by stakeholders to DSD clinical management options (i.e., identify what constitutes a “successful outcome”), both immediately and in the future; (2) Identify differential trade-off preferences (e.g., trade-offs between genital appearance, preserving fertility, sexual function, privacy, patient autonomy) and choice processes made by different stakeholder groups; (3) Design and pilot evidence-based curricula for stakeholders that clarify priorities, and integrate these with evidence to facilitate informed and shared decision-making. The proposed approach to understanding differential valuation of clinical management elements and developing data-driven curricula is potentially generalizable to other congenital or chronic conditions involving multidisciplinary care in which treatments are elective and dependent on patient/family values and preferences.
PI: David Sandberg