P-237: Elucidation The Role of Chromosomal Aberrations in Ovarian Reserve: A Retrospective Clinical Report

Background: Constitutional chromosome abnormalities are among the major contributors to the genetic causes of reproductive disorders. Despite all of worldwide efforts have been made so far, the prognosis for mosaic X chromosome aberration below 30% of unemployed has yet to be established. The purpose of this study was to assess the quantity and quiddity of chromosomal aberrations that may negatively affect ovarian health causing premature ovarian failure (POF) and diminished ovarian reserve (DOR). Materials and Methods: In this purpose, retrospective observational study of clinical features and biological parameters was performed. A total of 531 individuals who referred to our ward from 2007 to 2014 because of amenorrhea and poor responders to gonadotropins were selected. High-resolution chromosome analysis by GTG banding was carried out on peripheral blood lymphocyte cultures. Supplementary tests also were performed when required. Results: Of the 531 cases who were assessed for chromosomal defects, 52 showed abnormal karyotype. 22 cases were found to have cell lines with different level of X chromosome variation. Seven cases were sex reverse sex determining region Y (SRY) negative, five cases with abnormal X chromosomes, three cases with structurally abnormal autosomes and four individuals carrying X-autosome translocation were diagnosed. The overall prevalence of chromosomal abnormalities was 9.8% which 2.1% of it belongs to normal variable chromosome features. The frequencies of chromosomal alterations were 5% and 1.7% in POF and DOR females, respectively. Conclusion: The results confirm previous observations and emphasis on the critical role of chromosome abnormalities as one of the possible etiologies for ovarian follicular attrition.