P3.178: Gaps in Inclusion: Assessing Demographic Diversity in Sex Chromosome Aneuploidy Literature

Background: Sex chromosome aneuploidies (SCAs), including conditions such as Klinefelter syndrome, Turner syndrome, XYY syndrome, trisomy X, and rarer tetrasomies and pentasomies, are associated with a wide range of developmental, cognitive, and physical outcomes. While clinical research on SCAs has expanded over the past two decades, it remains unclear whether the demographic diversity of affected populations is adequately represented in published studies. Understanding the demographic makeup of patients in SCA research is critical to ensuring that findings are generalizable and applicable to all populations.

Methods: We conducted a systematic review of global clinical literature on SCAs published between 2004 and May 2024. Using Ovid MEDLINE® ALL, Embase, and Web of Science, we included all primary clinical studies with at least 10 participants and excluded review papers, clinical guidelines, and case studies. We extracted data on whether studies reported participant demographics, including race, ethnicity, socioeconomic status (SES), and geographic location, and analyzed trends over time and by region, and for those who do present demographic data, if they analyzed data for potential differences by race/ethnicity/SES.

Results: We identified a small number of major research hubs that are responsible for a significant portion of SCA-related publications, primarily located in the US and Europe. International papers rarely presented any metrics of race, ethnicity or SES. US based studies presented metrics more often than international studies, with rates increasing over time, but the rate was still low, with the highest proportion being nearly one quarter of studies publishing race and/or ethnicity in 2024. When demographic data were reported, there was a consistent overrepresentation of White, non-Hispanic, upper-middle-class individuals, particularly in studies from the United States. This suggests a demographic imbalance in SCA research, raising concerns about the generalizability of current findings.

Conclusion: Our review highlights significant gaps in the demographic representation of patients included in SCA research, with an overrepresentation of certain populations and a lack of inclusion of minoritized groups. To develop a more accurate and equitable understanding of SCAs and improve care for all patients, it is essential that future research intentionally recruits participants from racially, ethnically, and socioeconomically diverse backgrounds. Expanding representation will ensure that clinical findings better reflect the full spectrum of individuals affected by SCAs and promote more inclusive care strategies.