Endocrine Abstracts

Introduction: Turners’ syndrome (TS) affects one in 2500 live births. Multiple comorbidities affect TS patients and recommendations for long-term management advocate annual review with a ‘checklist’ approach. This audit of current practice of a specialist TS clinic aims to identify gaps in patients’ management.

Methods: A checklist of recommendations for health screening based on the National Turner’s Syndrome Guidelines was developed. Data was collected from clinical encounters from June 2011 to Jan 2013 on a cohort of 37 patients seen in a specialist TS service.

Results: 85% of the patients had had a cardiac MRI: 23% picked up cardiac abnormalities previously undetected on Echo. 89% had BP within target (21% on beta blocker): 30% had abnormal liver function tests. 92% under 50 years were receiving hormone replacement therapy (HRT); 88.2% oral. All with abnormal DXA scans received HRT. Fertility discussion had been documented in 36%.

Conclusions: This audit highlights the importance of a checklist approach to TS patients in a specialist service. The service will continue to ensure:

1) Routinely offering transdermal oestrogen preparations.

2) Protocol for initial and repeat cardiac MRI.

3) Early discussion re fertility and psychological and genetic support for this.