Determinants of Health-Related Quality of Life in Women with Turner Syndrome: The Role of Comorbidities, Hormonal Therapy and Depressive Symptoms

<b>Background</b>: Turner syndrome (TS) is a chromosomal disorder associated with considerable phenotypic variability and lifelong multisystem comorbidities. Beyond somatic manifestations, TS may substantially affect physical, psychological, and social functioning, highlighting the need for comprehensive assessment of quality of life in affected women. <b>Methods</b>: This observational comparative study included 30 adult women with genetically confirmed Turner syndrome and 43 age-matched healthy controls. Quality of life was assessed using the SF-36 questionnaire, with clinical, anthropometric, and psychosocial variables analyzed as potential predictors using correlation and multivariable regression analyses. <b>Results</b>: Women with Turner syndrome were significantly shorter than controls and more frequently affected by hypothyroidism, cardiac defects, and hearing impairment. They scored lower on SF-36 domains of general health, vitality, social functioning, and mental health, while exhibiting higher BDI-II depressive symptoms. Quality of life correlated negatively with comorbidity burden and depressive symptoms, positively with final height, and was lower in patients with hearing impairment, highlighting the multifactorial determinants of well-being in TS. <b>Conclusions</b>: Health-related quality of life in women with Turner syndrome is shaped by a complex interplay of somatic burden, psychological well-being, and social functioning. Depressive symptoms, comorbidities, stature, and hearing impairment significantly influence outcomes, emphasizing the need for holistic, multidisciplinary care that extends beyond medical management.

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Publication Details

Journal
Journal of Clinical Medicine
Published
2026-01-30
DOI
https://doi.org/10.3390/jcm15031088
Primary Topic
Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Type
article
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article

Determinants of Health-Related Quality of Life in Women with Turner Syndrome: The Role of Comorbidities, Hormonal Therapy and Depressive Symptoms

Dominika Pietrzyk, Mariola Krzyścin, Adam Przepiera, Agnieszka Brodowska et al.
Journal of Clinical Medicine
Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
article

Determinants of Health-Related Quality of Life in Women with Turner Syndrome: The Role of Comorbidities, Hormonal Therapy and Depressive Symptoms

Dominika Pietrzyk, Mariola Krzyścin, Adam Przepiera, Agnieszka Brodowska, Ewelina Soszka-Przepiera, Katarzyna Zając, Zana Bumbuliene, Elżbieta Sowińska-Przepiera
article en

Abstract

<b>Background</b>: Turner syndrome (TS) is a chromosomal disorder associated with considerable phenotypic variability and lifelong multisystem comorbidities. Beyond somatic manifestations, TS may substantially affect physical, psychological, and social functioning, highlighting the need for comprehensive assessment of quality of life in affected women. <b>Methods</b>: This observational comparative study included 30 adult women with genetically confirmed Turner syndrome and 43 age-matched healthy controls. Quality of life was assessed using the SF-36 questionnaire, with clinical, anthropometric, and psychosocial variables analyzed as potential predictors using correlation and multivariable regression analyses. <b>Results</b>: Women with Turner syndrome were significantly shorter than controls and more frequently affected by hypothyroidism, cardiac defects, and hearing impairment. They scored lower on SF-36 domains of general health, vitality, social functioning, and mental health, while exhibiting higher BDI-II depressive symptoms. Quality of life correlated negatively with comorbidity burden and depressive symptoms, positively with final height, and was lower in patients with hearing impairment, highlighting the multifactorial determinants of well-being in TS. <b>Conclusions</b>: Health-related quality of life in women with Turner syndrome is shaped by a complex interplay of somatic burden, psychological well-being, and social functioning. Depressive symptoms, comorbidities, stature, and hearing impairment significantly influence outcomes, emphasizing the need for holistic, multidisciplinary care that extends beyond medical management.

Journal of Clinical MedicineVol. 15(3)
Vilnius University (LT), Pomeranian Medical University (PL)
Gender equality
Openalex Percentile: Top 68%
Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
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