How Does Turner Syndrome Affect Quality of Life? A Systematic Review
Hristina Stoynova1, Radiana Staynova1, Daniela Kafalova1
1Department of Organisation and Economics of Pharmacy, Faculty of Pharmacy, Medical University of Plovdiv, 4002 Plovdiv, Bulgaria.
Medicina (Kaunas, Lithuania)
|September 27, 2025
Summary
Quality of life (QoL) is significantly impacted in Turner Syndrome (monosomy X). Hormone therapy, social support, and comorbidities are key factors influencing QoL for affected individuals.
Area of Science:
- Genetics and Endocrinology
- Patient-Reported Outcomes
Background:
- Turner Syndrome (monosomy X) is a rare genetic disorder.
- Affected individuals often experience challenges with quality of life (QoL).
Purpose of the Study:
- To systematically review and analyze the scientific literature on QoL in patients with Turner Syndrome.
Main Methods:
- A systematic literature review was conducted across Scopus, PubMed, and Web of Science.
- Included full-text English articles assessing QoL in Turner Syndrome patients from database inception to July 2025.
Main Results:
- 12 studies met eligibility criteria from 843 records.
- Patients with Turner Syndrome showed significant QoL differences compared to healthy controls.
- Hormone replacement therapy, social support, and comorbidities significantly influence QoL.
Conclusions:
- Assessing QoL is crucial for understanding patient adaptation and the need for multidisciplinary care.
- Further long-term studies are needed to evaluate therapeutic impacts on QoL.
- Individualized, multidisciplinary strategies are essential for improving health-related QoL in Turner Syndrome.
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