Living with Turner syndrome: the challenges and experiences of chronic ill health, body-image and infertility

Turner Syndrome (TS) is a sex-chromosome disorder occurring in approximately 1 in 2,500 female births. The main features are short stature and dysfunctional gonads, resulting in a lack of sex hormones, delayed puberty and infertility. Physical characteristics associated with TS include webbed neck and pigmented moles. Women with TS have a high risk of developing chronic ill health and require ongoing medical monitoring. This qualitative study aims to develop an understanding of the psychosocial impact of living with TS during adulthood, with particular reference to chronic ill health, body-image and infertility. Ten women were interviewed and data were analysed using Interpretative Phenomenological Analysis. Two superordinate themes were developed: 'Living with an Evolving Condition' and 'Oscillating between a Positive and Negative Identity'. The meaning of TS changed for participants depending on their life stage and they described living with uncertainty and difficulty in differentiating themselves from the manifestations of TS. Various consequences of TS impacted upon participants' struggles to establish a coherent and positive identity, including dissatisfaction with their appearance, receiving differential treatment and their medical care. Infertility was a particularly important aspect of participants' experiences of TS across the life stage and challenged their establishment of a positive identity. A limited version of Foucauldian Discourse Analysis was adopted to understand the influence of the socio-cultural (pronatalist) context on being infertile and provided a 'material-discursive' approach to the experience of infertility. Participants' struggles to maintain a positive identity were related to a lack of available, positive discursive resources to define themselves as (infertile) women. The participants also constructed their infertility as a 'dis-ability' and a 'reproductive impairment', placing them in positions of deficit and dysfunction. Potential clinical implications are discussed