THE TURNER SYNDROME LONG-TERM COMORBIDITIES STUDY
Research type
Research Study
Full title
Long-term observational study of women with Turner Syndrome and factors leading to associated co-morbidities including metabolic, cardiac, fertility, hormonal and bone parameters
IRAS ID
249842
Contact name
Helen Turner
Contact email
Sponsor organisation
Oxford University Hospitals NHS Foundation Trust
Duration of Study in the UK
10 years, 0 months, 1 days
Research summary
Turner syndrome (TS) is the most common sex-chromosome disorder in females, affecting 1:2000 live-born girls. It is caused by the loss of an entire X chromosome, loss of a portion of the X, or complex rearrangements affecting the X chromosome. Structural abnormalities can include deletions of the short or long arms of the X chromosome, duplications (isochromosomes), or ring chromosomes. Some individuals are mosaic and carry one or more additional cell lines. There is a highly variable clinical spectrum. TS patients with a 45,X karyotype tend to have more clinical features than those who are mosaic with a normal cell line. The typical features of TS are short stature and ovarian failure. Congenital cardiovascular anomalies occur in approximately 50%, including bicuspid aortic valve, aortic coarctation, elongated transverse aortic arch and partial anomalous pulmonary venous connection. Women with TS have an increased risk for aortic dilatation and aortic dissection. Many women with TS have auto-immune disorders, osteoporosis and associated metabolic risk factors. Liver enzymes are often raised and steatosis is frequent; also, a 5-fold increase in the risk of cirrhosis has been reported.
Risk assessment in TS is compromised by insufficient insight into the prevalence and causes of different syndrome-associated traits that may impact adversely on prognosis. This is especially the case for cardiovascular contributions to the excess all-cause mortality, where congenital and acquired heart disease contribute to up to 50% of all-cause mortality.
We plan an observational study on karyotypically proven TS, followed in the adult TS clinic in OCDEM-Oxford University Hospitals. Data on TS women will be collected retrospectively and prospectively. Standard routine care - guidelines based - will be followed. The aim of the study is to extend the established karyotype-phenotype and to provide a better understanding of the causation and long term course of the TS related comorbidities.REC name
West Midlands - Solihull Research Ethics Committee
REC reference
19/WM/0159
Date of REC Opinion
22 May 2019
REC opinion
Further Information Favourable Opinion