Introduction: Turner syndrome (TS) is a rare disease with typical phenotype manifestations and short stature. Part of the therapy in TS patients is the recombinant human growth hormone (rhGH) that leads to improved height velocity and final height.
Aim: The aim of the current study is to summarize the results of the diagnosis and treatment with rhGH of the TS patients followed up at a tertiary university center from 2011 to 2020.
Patients and Methods: The study design is a retrospective cohort evaluation. All study participants had at least one full year of observation at the center. A total of 28 children with genetically confirmed TS or TS variation karyotype, aged between 2 and 18 years, 92.9 % of whom were girls, participated in the study.
Results: The mean age at diagnosis was 9.6±3.7 years. Therapy with rhGH was started at 9.27±3.4 years in 22 (78.5%) of them with a mean rhGH dose of 0.035±0.006 mg/kg/d, which led to height gain of 8.0±1.3 cm for the first year. With a similar rhGH dose for the 2nd year of treatment (0.033±0.007 mg/kg/d), height velocity of 6.8±1.1 cm was achieved (p<0.005). A positive change in SDSheight was observed for the first year of therapy (-2.75±1.2 vs. -2.27±1.2, p=0.005). SDSIGF-1 before and after one treatment year increased significantly (-0.74±1.1 vs.1.57±1.4, p=0.001), without exceeding 2.0 SD.
Conclusion: The achieved growth in the presented TS cohort is suboptimal though consistent with the international guidelines for treatment of TS, and could help optimize future treatment approach to TS patients in our center.
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