Turner Syndrome (TS) is a rare chromosomal disorder. In Malaysia, there are limited data on TS cases. This study is aimed to review the profile and quality of life (QoL) among TS population in comparison to age-matched controls in a tertiary hospital, Hospital Canselor Tuanku Mukhriz (HCTM), Universiti Kebangsaan Malaysia.

This was a cross-sectional study carried out in HCTM. TS participants who attended the clinic and controls who were hospital staff were recruited via purposive sampling. TS participants’ sociodemographic and medical profiles were retrieved from medical records. A validated, translated World Health Organization Quality of Life (WHOQOL-BREF) questionnaire was used and completed by participants.

A total of 34 TS patients were approached and 24 (70.5%) of them participated in this study. Their median (IQR) age was 24.0 (7.0) years, and their responses were compared to 60 age-matched healthy females as controls [median age (IQR)= 24.0 (8.0) years]. The mean age at diagnosis (±SD) was 16.75 ± 5.22 years (range: 6-27). The majority of TS participants were 45X (58.3%). The most common issue among TS participants was premature ovarian insufficiency (95.8%), followed by osteopenia/osteoporosis (62.5%). There were no significant differences between TS and control groups’ median scores of the different WHOQOL-BREF domains. However, TS participants were found to score lower than the control group (p < 0.05) in social relationship domain.

Majority of young women with TS were diagnosed late. Primary amenorrhea triggered evaluation for most patients. The study demonstrated that the overall QoL of TS participants were good and almost similar to that of the controls. However, TS group had significantly lower scores for social domain and had greater concerns in social interactions, thus affecting their social life.

It was obtained from our university - the code number was JEP-2021-377.