Case Report: Exceptional longevity in turner syndrome

Turner Syndrome (TS), caused by complete or partial monosomy of chromosome X, is associated with increased morbidity and reduced life expectancy, largely driven by cardiovascular, endocrine, and metabolic complications. Here, we report the case of a 75-year-old woman with a confirmed diagnosis of non-mosaic TS (45,X) who remains clinically stable and functionally independent, beyond the expected survival for this condition. Notably, her mother is currently 101 years old, indicating a familial background of exceptional longevity. To explore the potential contribution of inherited genetic factors to this favorable phenotype, whole-genome sequencing (WGS) was performed in both the TS patient and her centenarian mother aiming to identify variants potentially associated with healthy aging and longevity. Hematological and biochemical analyses were subsequently used to functionally support the genetic and clinical findings, revealing preserved metabolic, inflammatory, and hematological profiles for the patient age. Together, these data suggest that a favorable genetic background may partially counterbalance the risks traditionally associated with X chromosome monosomy, contributing to preserved functional status into older age.