Introduction: Turners syndrome, also known as 45 X, or 45 X0, is characterised by the absence of one of the pair of X chromosomes. Clinical features are variable, and affected girls require regular review to identify and manage these. The Turners Syndrome Support Society has produced a health checklist for the management of Turners Syndrome, which provides a schedule for investigations. The aim of this audit was to evaluate whether we are meeting these standards.
Audit methodology: We performed a retrospective audit in January 2019 of all patients with Turners syndrome, cared for in our District General Hospital. We identified patients using the local Endocrinology patient database, and then used paper and electronic notes to collect data from both the local DGH and regional tertiary unit.
Outcomes: 9 patients were identified who had a diagnosis of Turners Syndrome. 3 patients had classical X0 Turners syndrome, 5 patients had mosaic Turners syndrome and 1 had an abnormal X chromosome. At the most recent clinic visit, 89% of patients had height and weight recorded, but only 22% had BMI; blood pressure was recorded in 22%. 78% of patients had had thyroid function checked within the past 24 months, but only 11% had had thyroid antibodies, compared to 44% who had had coeliac antibodies. 11% had blood glucose checked within the past 12 months, but 33% had had HbA1c and IGF-1. Of the 4 post-pubertal patients, LFTs were checked in 50%. Bone age had not been investigated in the past 12 months in any patients, and it had never been done in 33%.
Conclusions: We are good at measuring height and weight, but could improve our blood test and bone age investigations to ensure that we meet recommendations. We plan to give a copy of the checklist to the patients parents to empower them and act as a reminder, and to nominate 1 clinic appointment each year as an Annual review, during which this checklist should be consulted. We plan to re-audit 1 year following this implementation.
27 - 29 Nov 2019
British Society for Paediatric Endocrinology and Diabetes