Multi-Parameter Approach for Evaluation of Genomic Instability in the Polycystic Ovary Syndrome

Abstract

<b>Background:</b> The polycystic ovary syndrome (PCOS), characterized by hyperandrogenism and chronicanovulation, is a common endocrine disorder in women. PCOS, which is associated with polycystic ovaries,hirsutism, obesity and insulin resistance, is a leading cause of female infertility. In this condition there is animbalance in female sex hormones. All the sequelae symptoms of PCOS gradually lead to cancer in the courseof time. It is heterogeneous disorder of unknown etiology so it is essential to find the exact cause. Materials and<br/><b>Methods</b>: In this study both invasive and non-invasive techniques were employed to establish the etiology. Diagnosiswas based on Rotterdam criteria (hyperandrogenism, ovulatory dysfunction, PCOM) and multiparameters usingbuccal samples and dermatoglypic analysis and cytogenetic study for 10 cases and four age and sex matchedcontrols. <br/><b>Results</b>: In clinical analysis we have observed the mean value of total testosterone level was 23.6nmol/L,total hirsutism score was from 12-24, facial acne was found in in 70% patients with 7-12 subcapsular follicularcysts, each measuring 2-8 mm in diameter. In dermatoglypic analysis we observed increases in mean value (45.9°)of ATD angle when compared with control group and also found increased frequency (38%) of Ulnar loops onboth fingers (UU), (18%) whorls on the right finger and Ulnar loop on left finger (WU) and (16%) arches on rightand left fingers (AA) were observed in PCOS patients when compared with control subjects. Features which couldbe applied as markers for PCOS patients are the presence of Ulnar loops in middle and little fingers of right andleft hand. The buccal micronucleus cytome assay in exfoliated buccal cells, we found decrease in frequency ofmicronuclei and significant increases in frequency of karyolysed nuclei in polycystic ovarian syndrome patients.Chromosome aberration analysis revealed a significant increase in frequency of chromosome aberrations (CAs)in PCOS patients when compared with controls. <br/><b>Conclusions</b>: From this present work it can be concluded thatnon-invasive technique like dermatoglypics analysis and buccal micronucleus cytome assays with exfoliatedbuccal cell can also be effective biomarkers for PCOS, along with increased CAs in lymphocytes as a sign ofgenetic instability. There is a hypothesis that micronuclei and chromosomal aberrations could have a predictivevalue for cancer. From this present work it can be concluded to some extent that non-invasive technique likedermatoglypics and buccal cell analysis can also be effective for diagnosis.