ESPE Abstracts (2019) 92 P3-155

Turners Syndrome - Clinical Presentation, Genetics, Investigation and Management: A 10-Year Review

Hassan Abdullahi Elechi1,2, James Law2, Jacqui Alexander2, Loiuse Denvir2, Tabitha Randell2, Pooja Sachdev2


1University of Maiduguri, Maiduguri, Nigeria. 2Nottingham University Hospital, Nottingham, United Kingdom


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 & 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 ≥14years).

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.

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).

The serum oestrogen levels were below detection level in 17(63%) out of 27(96.4%) girls with identifiable results at commencement of oestrogen therapy. The value was 63pmol/l (51.75-95.50) in the remaining 10 (37%) girls. All the 28 girls had elevated gonadotrophins at the commencement of oestrogen therapy.

Raised ALT (≥35iu/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.

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-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 (≥14years: -2.9±0.6; ≤13years; -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.

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