A Review of the Genetic, Epigenetic, and Toxicological Causes of Polycystic Ovary Syndrome and Analysis of Current Treatments

Senior Capstone Experience by Maggie Witham ’21

Submitted to the Department of Biology

Advised by Dr. Mindy Reynolds

Description:  Polycystic ovary syndrome (PCOS) is a disorder of the reproductive endocrine system that affects 6-20% of pre-menopausal women worldwide. Disruptions in the hypothalamic-pituitary-gonadal axis (HPG axis) and its upstream control counterparts are thought to lead to the development of PCOS. The main symptoms of PCOS include infertility, hyperinsulinemia, anovulation or oligoovulation, amenorrhea or dysmenorrhea, hyperandrogenemia, secondary hirsutism, obesity, and the presence of multiple cysts on ovaries. The cause of PCOS is not exactly known, but is hypothesized to be consequent of genetic polymorphisms, exposure to endocrine disrupting chemicals during development, and hypermethylation in reproductive genes. Mutations can predispose a patient to PCOS; polymorphisms in CYP and AR genes are some of the most well-researched. Exposure to plasticizers may also lead to the development of PCOS phenotypes including cystic ovaries and problems with fertility and steroidogenesis. Data also suggest that there are epimutations resulting from contact with endocrine disrupting chemicals during development that can be possibly carried through a germline. Current treatments for PCOS include a combination of oral contraceptives, metabolic medications, and lifestyle changes. Typically, patients are treated with variation of all three categories to manage the wide range of symptoms. Novel treatments aim to target symptoms directly from the source with increased efficacy and fewer side effects, however, more research is necessary to perfect a lifelong treatment for PCOS.

Read Maggie’s SCE below:

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