Introduction and aim: Turner Syndrome (TS) is associated with a variety of morbidities affecting nearly every body system, and necessitates multidisciplinary management. To facilitate care, the International Turner Syndrome Consensus Group have drafted Clinical Practice Guidelines that were disseminated to ESE members in April 2017. The aim of this audit was to assess whether current management of adolescent and adult TS women in our care is in accordance with the proposed guidelines.
Patients and Methods: TS women were identified from hospital databases, in both Endocrinology and Paediatric and Young Adult Gynaecology Units and data were extracted from their files and compared to the proposed guidelines.
Results: We identified 16 women aged 16-61 years. Their average height and weight was 150 ± 6.87 cm and 58.5 ± 10.01 kg respectively. 6 out of 8 patients with reported data (75%) had been treated with GH treatment before the age of 13, and none had induction of puberty at age 11-12 years. Only 2/16 (12.5%) patients had had a 5-yearly audiometric evaluation and a dental/orthodontic evaluation. 13/16(81%) had performed at least one transthoracic echocardiography or CT/cardiac magnetic resonance scan. 3/15(20%) had an annual assessment of blood pressure and 11/16(69%) had been evaluated by a dual energy x-ray absorptiometry (DXA) scan and a neuropsychological/ behavioral assessment. Thyroid function was annually screened in 7/16(44%) women, HbA1c in 5/16(31%), lipids in 10/16(62.5%) and liver function in 7/16(44%). Serum 25-OH-VitD levels were measured every 2-3 years in 6/16(37.5%), and a screening for coeliac disease antibodies had been performed in 4/16(25%) of patients.
Conclusion: A significant proportion of TS women may miss health checks proposed by the International TS Consensus Group. This highlights the need for a better care plan strategy so as to engage and motivate these women for lifelong follow up in order to optimize their quality of life and reduce their comorbidities.