How Does Turner Syndrome Affect Quality of Life? A Systematic Review

Background and Objectives: Turner Syndrome (ORPHA:881) is a rare genetic disorder characterized by complete or partial loss of one of the X chromosomes (monosomy X). In addition to specific somatic features and hormonal imbalances, affected individuals often face challenges related to quality of life (QoL). The aim of this review is to analyze the available scientific literature on the QoL in patients with Turner Syndrome. Materials and Methods: A systematic literature review was conducted using the databases Scopus, PubMed, and Web of Science, using specific key words. The search was performed from the date of inception of each database through July 2025. Only full-text articles in English assessing the QoL in individuals with Turner Syndrome were included. Results: The search identified 843 records, of which 12 studies met the eligibility criteria and were included in the final analysis. These studies consistently reported significant differences in the QoL between patients with Turner Syndrome and healthy controls. Factors such as hormone replacement therapy, social support, and comorbid conditions were highlighted as key determinants of QoL. Conclusions: Assessing the QoL in patients with Turner Syndrome is essential for understanding their overall adaptation and the need for a multidisciplinary approach to care. The findings highlight the necessity of additional long-term studies to better understand the impact of various therapeutic strategies on the QoL. The systematic review of the literature underscores the importance of a multidisciplinary approach in the care of patients with Turner Syndrome and the need for individualized therapeutic strategies aimed at improving their health-related quality of life.