Background. The purpose of this study was to perform analysis of X chromosome monosomy and structural changes detected during routine karyotyping in The Center for Medical Genetics of Vilnius University Hospital “Santariskiu Klinikos” (CMG VUHSK) from 1999 to 2015, and to evaluate the age of patients at the time of diagnosis. Additionally, the review of the recommendations for management of patients with Turner syndrome was performed.
Material and methods. Retrospective analysis of routine karyotyping results obtained in CMG VUHSK from 1999 to 2015 was performed. Statistical analysis was performed using Microsoft Excel and SPSS (Statistical Package for the Social Sciences, IBM, USA) v22.0 software packages. The results were considered statistically signiffcant if p value was lower than 0,05. Search of literature was performed in Pubmed database using MeSH (Medical Subject Headings) terms.
Results. 118 monosomies and/or structure rearrangements of chromosome X have been detected starting from 1999. The largest number of these chromosomal aberrations were detected in 2001 (n=16), and only one case of Turner syndrome was diagnosed in 2015. Median age of all cohort during time of diagnose was 13 years (min - 0, max - 53). Totally, 45,X karyotype was detected in 53 patients (44.9%). Turner syndrome was diagnosed statistically significantly more frequently during the first year of life when karyotype of patient was 45,X (p=0.001).
Conclusions. Turner syndrome is characterized by wide spectrum of phenotypical and karyotypical variants. The diagnosis of Turner syndrome is established earlier for patients with 45,X karyotype.
