ESPE Abstracts

Background: Turner syndrome (TS) is one of the most common genetic disorders associated with abnormalities of chromosome X that occurs in different populations with a frequency of 25–210 per 100 000 female live births.

Objective and hypotheses:: The aim of this study was to investigate the prevalence of TS in ukrainian children, as well as frequency variations of karyotype and age of primary diagnosis of TS.

Method: We analysed the database of the Ukrainian Registry of children with dwarfism (2005–2014 years old), that include 453 girls with TS 11 month-18.2 years old.

Results: The prevalence of TS in Ukraine is 77.5 per 100 000 female live newborns. Each year diagnosed 17–25 new cases of TS. Mean age of diagnosis – 9.4±4.9 years old. Age of primary diagnosis of TS was lowest in children with karyotype 45, X0 – 9.1±5.2 years old, in children with mosaicism – 9.5±4.4 years old and it was highest in patients with structural abnormalities of chromosome X – 10.4±3.9 years old In 1.6% girls diagnosis was established in the 1st year of life, 3.6% – aged 1–4 years, 9.4% – aged 4–8 years old, 18.9% – in 8–12 years old and 66.5% – in 12–17 years old. Most of girls with TS (58.3%) had karyotype 45, X; mosaicism (45, X/46, XX) – 23.4%; mosaicism with polisomy X chromosome (45, X/47, XXX) – 1.4%, structural abnormalities of chromosome X – 16.9%, including 46, Xi (Xq) – 4.8%; 45, X/46, Xi (Xq) – 6.3%; 45, X/46, X+mar – 3.1%, 46, X, del (X)(Xq) – 1.9% and 45, X/46, X, del – in 0.8% of patients.

Conclusion: In Ukraine the highest incidence of primary diagnosis of TS is in age after 12 years old and in girls with karyotype 45, X. The largest proportion of patients with TS has a karyotype with monosomy X.