Endocrine Abstracts

Introduction: Turner syndrome (TS) is a chromosomal disorder affecting females caused by complete or partial deletion of an X chromosome. TS affects multiple systems through all stages of life requiring multidisciplinary care. Our objective was to evaluate the current management of TS in Lothian (Scotland) against consensus clinical practice guidelines.

Methods: Individuals with TS under the care of Paediatric Endocrinology in Lothian were identified. Data were obtained retrospectively from electronic patient records.

Results: Our cohort consisted of 29 patients; median age 13.99y. 10 (34.5%) were diagnosed antenatally. The median age of postnatal diagnosis was 3y (SD 4.17y). Karyotypes for the cohort were 14 mosaic, 12 45XO, 2 Ring-X, 1 isochromosome. 28 patients attend a dedicated TS clinic; 1 patient is seen in a general endocrine clinic. Of 19 patients of pubertal age, 7 (36.8%) achieved spontaneous menarche, of which one patient presented with POI at the age of 13.4y. No individuals with 45XO karyotype achieved spontaneous menarche. 12 individuals (63.2%) required pubertal induction, all receiving transdermal oestrogen, at a median age of 11.44y (SD 0.5y). 24 (82.8%) received growth hormone with median treatment starting age 6.08y (SD 3.2y). The mean height SDS for the cohort was -1.32 (SD 0.81). Median height SDS for patients not treated with GH was 0.203. 25 (86%) have had a documented blood pressure measurement in the last 12 months. All individuals had cardiac imaging. Normal imaging in 16 of 29 (55.2%). 13 (44.8%) had some form of congenital heart disease: 5(17.2%) bicuspid aortic valve. In the last 12 months, 24 (82.8%) have had their TFTs checked, 22 (75.9%) HbA1c and 21 (72.4%) IGF1. In the last 24m, 11 (37.9%) have had their anti-TTG checked.

Conclusion: Management of individuals with Turner Syndrome in Lothian displayed good adherence to international guidelines, particularly in the use of hormone replacement and monitoring for comorbidities. Variability in age of diagnosis and treatment initiation suggests opportunities for earlier identification and intervention. We intend to develop a checklist to ensure care aligns with the 2023 International Clinical Practice Guidelines.