Endocrine Abstracts

Background: Turner syndrome (TS) is characterised by a wide phenotype and age at presentation. We reviewed our over-12s Turner clinic over a period of 10 years to evaluate pattern of diagnosis, co-morbidities and management.

Subjects and method: Retrospective data analysis of patients with TS who attended the over-12s clinic (2008–2017, n=28). Data is median (IQR) or mean±SD as appropriate.

Result: The age at diagnosis was 10.4(1.9–15.0) years. Presenting complaints were identified in 18 (64.3%) patients: congenital heart disease (CHD) in 2 of 3 diagnosed at birth; short stature in all 9 diagnosed at 1–13.9years; delayed/arrested puberty in 7 diagnosed ≥14 years). Karyotype results were available for 27(96.4%) patients (11 45,XO; 16 mosaic). Those diagnosed at birth had Classic TS (100%) compared to 23% of those diagnosed after infancy. Routine referrals as recommended by the TS Consensus Study Group were made for echocardiogram (21, 75.0%), renal ultrasound (17, 60.7%), dental review (5,17.9%) and to ENT (21, 75.0%). Twenty-five (89.2%) patients had documented comorbidities; ENT disorders (n=12), CHD (n=5), lymphedema (n=5), renal/urological disorders (n=7), visual impairment (n=5), psychological problems (n=3); thyroid dysfunction (n=3) and coeliac disease (n=1). Raised ALT (≥35 iu/l) in the absence of clinical symptoms of liver disease was seen both pre- and post- puberty (2/26 and 5/25 respectively) and was unlikely to be related to oestrogen therapy. The 2 girls with pre-pubertal raised ALT remained so after puberty. Raised triglycerides (TGL) noted pre-puberty (2/12) persisted (3/22 post puberty). There was no significant difference in the BMI SDS change of either those with normal and raised ALT or TGL. Twenty-six (92.9%) had growth hormone therapy (GHT), duration 3.7 (2.6–5.6) years with an improvement in height-SDS at the end of GHT of 0.3±1.0. Patients with late diagnosis were relatively shorter at the start of GHT (≥14 years: −2.9±0.6; ≤13 years; −2.1±0.7; P=0.05) and the final height-SDS difference was significantly different (P<0.01).

Conclusion: TS is diagnosed all through childhood with some age specific presentations. Comorbidities result in a significant disease burden and ENT disorders particularly are common. GHT is associated with an overall positive gain in height-SDS.