Abstract

Turner syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls. Aim of our study was to assess the clinical and the cytogenetic characteristics in patient with Turner syndrome from Lviv region (West Ukraine) for 1997-2017.
Methods: 135 female patients aged 1 month-49 years from Lviv region were clinical and cytogenetically diagnosed Turner syndrome with conventional G-banding.
Results: The average age at diagnosis of 135 patients was 16.9 ± 5.3 years. From 1997-2017 years the majority of patient with TS have been represented at the age category of 12-18 years, 55 people (40.7%). In 12, 6% girls diagnosis was established in the 1st year of life.
There were 73 cases with monosomy X (54.1%), mosaicism 51 (37.8%), only structural X chromosome abnormalities without mosaic forms was found in 11 patients (8.1%). We observed mosaicism (45,X/46,XX) in 15.6%, mosaicism with polysomy X chromosome (45,X/47,XXX) in 4.4%, 45,X/46,X,i(Xq) in 8.9%, mosaicism 45,X/ 46,X,r(X) in 3.7% and 7(5.2%) other cases of mosaicism. Among our cohort patients in 113 (84.4%) women clinically diagnosis was suspected. Women with Turner syndrome are more likely to have abnormality of skeletal system in 78 (57.8%) and pathology of endocrine system 57% (77 cases), especially thyroid dysfunction and reproductive system – 51.1% (69 cases).
Conclusion: In Lviv region (West Ukraine) the highest incidence of primary diagnosis of TS is after 12 years old. The largest proportion of patients with TS has a karyotype with monosomy X.

Keywords: Turner syndrome; X chromosome; Phenotype; Age; Ukraine