Cytogenetic Profile and Phenotypical and Reproductive Complaints in 39 Patients with Turner Syndrome: A Single Center Experience

Turner sendromu, sitogenetik ve klinik profili

Abstract

Background/Aim: Turner syndrome (TS) is a genetic failure that influence phenotypic girls who have full or incomplete monosomy of X chromosome with a variety of clinical signs. The purpose of this study was to estimate TS cases based on their cytogenetic findings and clinical implications.

Material and methods:Thirty-nine cases diagnosed with TS were retrospectively analyzed between November 2006 and December 2019. These patients were identified among 505 people who had their karyotypes analyzed for different reasons, including primary amenorrhea (PA), premature ovarian insufficiency (POI), TS phenotype, and uterine agenesis (UA). Karyotype analysis was carried out using Giemsa staining in accordance with the standard method on peripheral blood and fluorescence in situ hybridization (FISH) was used when necessary.

Results: The median age of TS cases were 15 years (ranging from 4 to 32). The distribution of reasons for admission was as follows: 61.5% TS phenotype, 25.6% PA, 10.3% POI, and 2.6% UA with horseshoe kidney.  The frequency of cytogenetic finding was 38.5% pure monosomy X and 61.5 % mosaic [30.7% monosomy X with structural rearrangements, 18% with X chromosomal structural abnormalities, 7.7% with X aneuploidy and 5.1% with Y chromosomal structural abnormalities]. The most accepted reason for both pure and mosaic TS group was TS phenotype.

Conclusion: TS develops when one sex chromosome is wholly or incompletely removed as well as structurally altered. Phenotype, fertility, and life quality may differ according to the variability of cytogenetic findings. Comprehensive cytogenetic analysis is required for the patients for medical follow-up and genetic counselling.