Turner Syndrome Life Course Project V.1.0.
Research type
Research Study
Full title
Turner Syndrome Life Course Project: a quantitative analysis.
IRAS ID
157923
Contact name
Gerard S Conway
Contact email
Sponsor organisation
University College London Hospitals
Duration of Study in the UK
3 years, 0 months, 1 days
Research summary
Turner Syndrome (TS) is a genetic condition affecting 15,000 females in the UK. TS, caused by a lack of one X chromosome, can cause ovaries to fail to develop and reduce height. In addition, every part of the body may be affected with conditions that arise during life. The most dramatic problem is the rupture of the aorta causing sudden death. The Turner Syndrome Support Society of the UK has been aware of several such deaths over recent years.
Current guidelines on TS patient management are largely based on textbook data from children and little is known about the natural history of TS in adult life. This research aims to capture health events over the TS life course and to identify predictive factors that contribute to adverse outcomes.
The adult TS clinic at UCLH was one of the first in the world. Over 700 TS women have attended with an estimated 10,000 visits. All routine measurements from this clinic resource will be recorded to construct the first longitudinal dataset of health events for TS women. Medical treatments received in earlier years will be compared to adult health outcomes. In addition we seek to compare health and psychosocial outcomes by a questionnaire and qualitative interview.
The research has 5 parts:
1) A case note review of historical clinical visits.
2) Quality of life questionnaires.
3) An investigation into lost follow up appointments as recent evidence suggests that defaulting from clinic is more likely in those with an adverse socioeconomic background.
4) A dietary interview, in a select group of individuals, in order to obtain accurate nutritional data as obesity and risk of diabetes are common problems in the older age group.
5) Death certificate tracking in order to gain mortality data for this cohort in future years.REC name
London - Chelsea Research Ethics Committee
REC reference
14/LO/2174
Date of REC Opinion
29 Jan 2015
REC opinion
Further Information Favourable Opinion