Background: TS, resulting from partial or complete loss of an X-chromosome, is a rare diagnosis1. In addition to its well-described phenotypic features2, a number of multi-systemic conditions may develop over the lifespan of a Turner female that require long-term surveillance which is challenging to deliver in todays specialised services NHS.
Aim: To evaluate UHL service provision against the only guidelines for the care of girls and women with TS published recently3.
Methods: Retrospective analysis of comprehensive data collected from various sources for each patient held within the hospital, from 1991 to December 2017. The information collected includes demographic data, clinical features at presentation, karyotype, specialised care input in the areas of paediatric and adult endocrinology (including growth and puberty), cardiology, fertility and pregnancy, otorhinolaryngology, ophthalmology, dermatology, bone health, and others as recommended in the guidelines3.
Results: Seventy patients have been identified on initial screening and data analysis is ongoing. Interim analysis shows that care is better when diagnosis is established in early life than in adulthood, when standards of care are variable depending on the speciality a TS woman presents to. Early trends indicate relatively better capture of demographic data, biochemical screening of thyroid disorder, initial cardiac and renal imaging, and management of short stature and puberty compared to deficient care in the remaining aspects of the recommendations.
Discussion: A multidisciplinary team approach is essential for early recognition and appropriate management of systemic disorders to enable each TS woman to achieve good quality of life. With this work we hope to build links with all the specialities to deliver good standard of care to every woman with TS.
1. Nielsen J. Hum Genet 1991; 87: 8183.
2. Turner HH. A Endocrinology 1938; 23: 566574.
3. Gravholt CH. Eur J Endocrinol 2017; 177: G1G70.