The quality of life and body image disturbances of Turner syndrome patients in Malaysia: a cross-sectional study

Health-related QoL (HRQOL) is the functional effect of an illness or disorder and its consequent therapy upon a patient, as perceived by the patient [17]. Though subjective, it is a crucial aspect in patient care and provides valuable insight into holistic management of health conditions.

TS affects growth and development and its comorbidities have an impact on several facets of a patient’s life. Deeper scrutiny into the HRQOL of these patients could increase awareness regarding their needs leading to finer tailoring of their treatment process.

Social and demographic characteristics

In our study, although not statistically significant, majority of our TS participants were single (95.8%) compared to the control group (80%). Social isolation has been more commonly reported in patients with TS than in the general population and loneliness contributes to lower QoL [18].

A higher percentage of the TS participants were neither employed nor a student which could be either due to health-related problems like hypertension as reported by Verlinde et al. [19] or body image issues [20]. Indeed, patients with TS reported the least positive overall body image compared with the other DSD groups [20] and low energy levels and fatigue [21] which might affect their ability to gain and maintain employment. There was also a feeling of being overburdened with work and concerns about working future [21].

Age at diagnosis

The mean age at diagnosis (± SD) among women with TS in our study was 16.75 ± 5.22 years as compared to the study by Reimann et al. [22], where the median age at diagnosis was 12 years (0–43). In another study by Liedmeier et al. [15], the median age at diagnosis was 10.49 years (0–61). According to Bannink et al. [23] growth hormone therapy and estrogen therapy had beneficial effects and greater psychological impact on the patient’s quality of life.

WHOQOL-BREF domains

In our study, the social dimension of QoL appear to be decreased in individuals with TS, compared to the control samples. Previous studies which used WHOQOL-BREF, to examine the QoL have found females with TS to have impairment in not only the social but also the physical and the psychological dimensions of QoL [8]. This may be because height plays an important role in the Caucasian population. Short stature is a detrimental factor which may have a tremendous effect on them psychologically as seen by the outcome of the research by Jeż et al. [18] indicating that life satisfaction can be low among TS patients concerned by short statures, in addition to also the feeling of being handicapped, their loneliness and the attitude of negative perception by those around them. On the other hand, in the Asian society, short stature is fairly common, which may also explain the delayed age at diagnosis.

There was no statistically significant difference in the general, physical, psychological health or environment aspects in both groups. These findings might be in line with the well-being paradox, which challenges the presumptions among clinicians and society that TS patients generally have poorer QoL. The correlation matrix shows interrelations within the QoL domains; however, it does not give any information on which variable can explain the global QoL best. The influence of the COVID-19 pandemic on every individual from different dimensions may have had an effect on overall QoL, general health, psychological and environmental dimensions.

Body image disturbances

The main concerns among the TS women in our study regarding their appearance was short stature and low self-esteem – which may be a factor in the impairment of body image and social interaction. These two factors were gained from their answers to the open-ended questions in the BIDQ. Women with TS in our study have body image concerns associated with the impairment in social areas of functioning. These concerns interfered with their social life, work, job and ability to function. The interference with social functioning requiring interaction with others was suggested by Hoven et al. [21] whose TS patients in their study preferred to be involved in individual sports activities such as running or fitness presumably due to the lower satisfaction with their body image and hence, felt more comfortable in the situation of being alone. This is similar to a study by Zainuddin et al. [13] that showed women with congenital adrenal hyperplasia felt that they were not beautiful, felt different from others and embarrassed to the point of avoiding attendance to social events where social interaction with others was required.

On the other hand, previous studies by Gould et al. [24] and Liedmeier et al. [15] showed that there was no subjective impairment in the social life of women with TS.

Challenges in social interaction included connection with peers or engaging in a romantic relationship [21].

Unfortunately, there were no other studies which utilised the same instrument, BIDQ. However, another study by Cragg and Lafreniere [25], which used three instruments including the Rosenberg Self-Esteem Scale by Morris Rosenberg, the State Self-Esteem Scale by Todd F. Heatherton & Janet Polivy and the Body-Esteem Scale by Beverley K. Mendelson & Donna R. White, demonstrated that women with TS had significant lower scores on body esteem (indicating poorer body image), overall self-esteem, social and appearance-related self-esteem which parallels with our study’s findings. Our findings are also in line with the study by Wolstencroft and Skuse [5], that found that women with TS are likely to encounter social interaction challenges.

Strengths and limitations

There is a scarcity of published research in South East Asia with regards to the QoL and BID of TS patients, hence our study findings contributed valuable additional literature to this part of the world. Our findings of the TS participants were compared with age-matched healthy control groups. Two validated, translated questionnaires were utilised in our study. Our tertiary centre, HCTM, UKM has the most established PAG unit in Malaysia, is the main referral centre, where we receive and manage the largest number of TS patients in the country.

The study however faced some limitations: It was done during the COVID-19 pandemic situation, which was far from ideal. Due to the low clinic turnout rate, it was difficult to engage with the patients face-to-face. This may have contributed to the lower participation rate. A larger study with more participants would give the research greater power with reduced bias.

We also postulate that COVID-19 situation may have contributed to the low employment rate. However, this should be investigated further.

Recommendations

We would like to recommend a future study to compare the HRQOL in TS patients who have undergone treatment early against those who have received treatment late due to a delayed diagnosis instead of against a healthy population.

In addition, a study regarding the relationship of the TS patients with their caregivers and family members, in regards to three main stems which are depression, stress and anxiety would be useful. Findings could help in strategizing interventions to help reduce stress, anxiety and depression among caregivers of TS patients.

There is need to further screen patients with TS on varying aspects of psychosocial functioning and its impact on HRQOL since this was one of the positive findings in our study.