Hedvika Geržová, Peter Koliba, Zdenka Dančíková, Hana Chalupová
Turner syndrome (TS) belongs to most frequent chromosomal aberration (1:2500 live-born girls). In Czech Republic lives about two thousand women and gilrs with herewith handicap. In the year 1997 in Czech Republic was born to first women with TS the child from presented oocyte. The developement of cytogenetic metod and DNA analyses in last years enable fast haunt earlier unrecognised mosaic forms of the karyotype with present Y chromosome of girls with TS. Laparoscopical techniques allow perform of this way in handicapped girls indicated the gonadectomy, if you like the adnexectomy as a prevention of malignant lapse of dysgenetical gonads. In this article author set up the history of TS, clinical experience with diagnostic, dipherential diagnostic and treatment of 44 patients with TS in age divide 11-30 years. Cooperation of pediatrician, genetics, children gynaecologist and endocrinologist is necessary.
Key Words: Turner syndrome, monosomy X, gonadal dysgenesis, sexual infantilism, laparoscopic gonadectomy