Investigation of the relationship between reproductive disorders and chromosomal abnormalities in a large-scale, single-center 10-year retrospective study

Ertosun M. G., Araci D. G., Peker A., Uzuner S. Y., Toylu A., Ozekinci M., ...More

JOURNAL OF GYNECOLOGY OBSTETRICS AND HUMAN REPRODUCTION, vol.51, no.9, 2022 (SCI-Expanded) identifier identifier identifier


Objective: Chromosomal changes are an important cause of reproductive disorders. This study investigated the chromosomal changes and prevalence of pathologies in individuals admitted to our Genetic Evaluation Center over a 10-year period due to a reproductive disorder.Materials & Methods: The chromosomal findings of 4345 individuals with reproductive disorders who applied to our Genetic Evaluation Center at Akdeniz University in Antalya, Turkey between 2011 and 2021 were ret-rospectively evaluated.Results: In this study, an abnormal karyotype was found in a total of 138 individuals (87 males and 51 females). Although the incidence of this abnormal karyotype varied among the diseases in the reproduc-tive disorder subgroups, it was most frequently seen in azoospermia (17.0%). Of the 138 abnormalities, 75 were numerical and 54 were structural. The remaining 9 abnormalities consisted of 6 sex reversals and 3 patients with both numerical and structural anomalies. Additionally, the X chromosome was the chromo-some most frequently involved in these abnormalities, being observed in 40.6% of patients.Conclusion: This 10-year, single-center study involved one of the largest case series in the literature to inves-tigate the subtypes of reproductive disorders and their chromosomal relationship. Although the importance of chromosome analysis has been deemphasized, it is still recommended for use by the guidelines and, as the results of this study demonstrate, is still a highly effective method in the investigation of reproductive disor-ders. Furthermore, chromosome analysis of individuals diagnosed with a reproductive disorder is also very important in the practice of the increasingly utilized preimplantation genetic diagnosis (PGD).(c) 2022 Elsevier Masson SAS. All rights reserved.