Invited Talk ESA-SRB-ANZBMS 2024 in conjunction with ENSA

Turner Syndrome – chronic disease management and reproductive health in adulthood (#186)

Amanda Vincent 1 2
  1. Monash Centre for Health Research and Implementation (MCHRI) Sub-Faculty of Clinical and Molecular Medicine, Monash University , Head, Early Menopause research, Melbourne, VIC, Australia
  2. Department of Endocrinology, Monash Health, Endocrinologist, Clayton, VIC, Australia

Turner syndrome affects 1/2000 female individuals and occurs in the setting of one intact X chromosome but complete or partial absence of the second X chromosome. The Turner syndrome phenotype includes short stature, ovarian insufficiency, hearing loss, particular neurodevelopmental profile, increased risk of certain autoimmune conditions and specific congenital cardiac, skeletal and renal anomalies. However, significant individual phenotype variability occurs with the highest co-morbidity frequency and mortality in those with the 45,X karyotype and a milder phenotype in those with mosaicism. As Turner syndrome affects multiple organ systems throughout life, a longterm multidisciplinary approach to care is recommended. This presentation will outline the management of adults with Turner syndrome highlighting recommendations from the 2024 Turner Syndrome clinical guidelines1 and the experience of the Monash Health Turner syndrome longterm care clinic.