Date of Project
College of Arts and Sciences
Dr. Carrie Doyle
Dr. Mary Kroetz
Polycystic Ovarian Syndrome (PCOS) remains an extremely common, yet understudied syndrome experienced by 6-12% of females of reproductive age. Not only does it cause painful side effects manifesting both physically and mentally, but it also poses a threat to the fertility of those affected. For this reason, a more in-depth analysis to better understand how to detect this condition early and prevent fertility complications later is certainly warranted. PCOS is suspected to be primarily genetic due to correlations among immediate female family members. Based on previous research, a good starting point for analysis is the INSR gene. Various mutations within the INSR gene can result in the clinical manifestation of insulin resistance, which is the most common symptom reported by both lean and obese PCOS patients. Previous studies have shown that exon 17 within the INSR gene may be a potential genetic marker of PCOS. In this study, we attempted to isolate this mutation in a population of young women with diagnosed PCOS. Our initial results indicate that the genetic marker most of note in exon 17 may only be present among certain ethnic groups and may not serve as a universal marker of PCOS. Additional case studies implicating mutations in exons 3 and 19, however limited, were used as a framework to identify genetic mutations in these alternate regions. Findings in exon 19 proved to be insignificant but exon 3 showed a couple of areas for potential future research.
Henry, Lauren, "Genetic Origins of Polycystic Ovarian Syndrome (PCOS): An Analysis of the Genetic Correlation Between PCOS and Insulin Receptor Mutations" (2022). Undergraduate Theses. 85.