Aims This study aimed to analyse the medical records of a cohort of 19 Turner Syndrome patients attending three specialist primary lymphoedema clinics to elucidate the key features of the lymphatic phenotype of Turner Syndrome and provide vital insights into its diagnosis, progression and management. Lymphoedema of the hands, feet and cervical region is a common and key diagnostic indicator of Turner Syndrome, present in >60% of patients, though is poorly described in the literature.

Methods The study sample of 19 female patients was obtained from specialist primary lymphoedema clinics at three major centres and located by identifying all patients with Turner Syndrome and lymphoedema from hospital databases. Patient and genetic notes were identified through the use of patient-specific numerical identifiers. These notes were thoroughly analysed and examined and any important information inserted into a spreadsheet pro forma.

Results The majority of patients presented at birth with 4-limb lymphoedema which often resolved in early childhood but frequently recurred in later childhood. There was 1 case of systemic involvement (e.g. intestinal or pulmonary lymphangiectasia). The swelling was confined to the legs and hands with no facial or genital swelling. The most significant discovery from this research was a pattern observed from the lymphoscintigraphy results, which suggested that the lymphatic phenotype of Turner Syndrome may be due to lymphatic functional hypoplasia of lymphatic tracts.

Conclusion Turner Syndrome frequently presents at birth with 4-limb lymphoedema which often resolves in early childhood but may recur at any age. The lymphoscintigraphy results suggested that the lymphatic phenotype in Turner Syndrome may be due to lymphatic functional hypoplasia, a new perspective which may highlight the importance of this test as a baseline assessment of lymphoedema in Turner Syndrome patients.