Advancing awareness, support, clinical care and research in sex chromosome aneuploidies: The role and impact of AXYS, a patient and family focused sex chromosome aneuploidy advocacy group

Sex chromosome aneuploidies (SCA) affect 1 in 400 births, yet many individuals remain undiagnosed throughout childhood and even through their adult lives. This article reviews the epidemiology, clinical presentation, psychosocial challenges, and persistent diagnostic gaps associated with SCAs, and highlights the role of the Association for X and Y Chromosome Variations (AXYS), a leading advocacy organization providing education and support for individuals with X and Y chromosome variations. Since its founding in 1989, AXYS has expanded peer support networks, developed extensive educational resources, and established the AXYS Clinic and Research Consortium (ACRC), a network of 19 interdisciplinary clinics that also serve as research hubs. Ongoing participation in initiatives such as the GALAXY patient registry and the National Institute of Health funded Network for Advancing Sex Chromosome Aneuploidy Research Readiness (NASCARR) aim to strengthen natural history data and are leading to progress toward training health professionals and equipping them with evidence-based findings to care for patients with X and Y chromosome variations. Patient advocacy organizations serve as critical bridges between stakeholders, improving diagnosis, access to care, and research engagement. Strengthening these connections is essential to advancing equitable, patient-centered outcomes in SCAs.