Turner Syndrome: for successful treatment it is necessary to diagnose it early.

Abstract

Background Turner Syndrome (TS) is a chromosomal disorder with short stature as the most common feature. The aim of this paper was to show the characteristics of TS patients treated at our Clinic, with an emphasis on their age at diagnosis and the effect of growth hormone therapy on their final height and height gain. Methods This retrospective study is based on the medical records of 37 female pediatric patients aged 0-18 years treated at the Pediatric Department of the Sestre Milosrdnice University Hospital Center from 1997 to 2017. Results Mean age at diagnosis is 7.55±5.13 years. In the observed period a trend towards later diagnosis was shown (P=0.004). Most patients (26) were treated with rhGH. The average height of all patients who reached their final height (N.=30) was 151.49±6.49 cm (standard deviation score [SDS]: -1.73±1.11). The initial height SDS was significantly lower in the treated compared to the untreated patients (P=0.02). The final height was 151.59±7.21 cm (SDS: -1.72±1.3) in the treated and 151.12±5.85 cm (SDS: -1.77±0.94) in the untreated patients. The difference between the initial and final height was significantly greater in the treated patients compared to the untreated patients (30.46 and 16.28 cm, P=0.039). The same was true for the difference between the initial and final height SDS (0.78, or -0.3, P=0.042). Conclusions Based on the results of this research, TS is increasingly diagnosed at a later age. The effect of rhGH therapy was favorable and resulted in a greater height gain in the treated patients.