Introduction: In 2009, the Turners Syndrome Support Society UK released a checklist for the management of Turners Syndrome patients. The aim of this audit was to evaluate how well we are doing as a Tertiary Paediatric endocrine unit in meeting these required standards of care.
Method: We performed a retrospective audit in June 2016 of patients diagnosed with Turners Syndrome in our unit between 2007 and 2015 using the Electronic Care Record for data collection on recommended investigations and referrals.
Results: 20 patients were diagnosed during this period. The mean age was 6.9 years (range 117 years), with the majority (65%) diagnosed in infancy. There was a 100% compliance rate for cardiology referral and renal /pelvis ultrasound scan and a 90% rate of SRY testing. 55% were referred for genetic counselling and only 15% had been referred to a support group. We were particularly good at recording height and weight (both 100%) but less good at calculating BMI (10%) and recording blood pressure (45%). All patients aged >5 years had been commenced on Growth hormone treatment and had an IGF1 level checked annually. Three patients, had puberty induced with Ethinyl Estradiol and one had also received Oxandrolone. All pubertal patients had liver function tests checked. Thyroid function had been tested in 90%, but only 20% had anti-TPO antibody testing, 60% had a coeliac screen, 30% had glucose checked, 50% had an HbA1c and 20% had a bone age assessed.
Recommendations and conclusions: As a unit, we are performing well regarding cardiology referrals, SRY testing and renal/pelvis ultrasound scans but we could refer more patients for genetic counselling and to support groups. We could also ensure that BMI is calculated and blood pressure recorded at each clinic visit and increase our testing of anti-TPO antibodies, coeliac screen, blood glucose, HbA1c and bone age. To improve outcomes, I recommend incorporating this checklist into patient charts as an aide memoir and refer to it at each appointment. I would like to repeat this audit following change in practice to ensure management has improved.
22 - 24 Nov 2017
British Society for Paediatric Endocrinology and Diabetes