Sunday, August 6, 2023

Genetics of Polycystic Ovary Syndrome


         Polycystic ovary syndrome (PCOS) affects 6-10% of reproductive-age women.  PCOS can be diagnosed if two of the following three characteristics are shown: anovulation, clinical and/or biochemical signs of hyperandrogenism, and polycystic ovaries on ultrasound.  PCOS can be made worse with obesity and has an increased risk of Type 2 Diabetes.   There are four phenotypes of PCOS and the different types can differ in metabolic and reproductive profiles.  There is a suggestion of the pathophysiology of PCOS that is shown in the flow chart below.  


        PCOS was said to have a polygenic predisposition that can be worsened by external factors like obesity, as mentioned before.  Through family studies, it was discovered that both male and female family members of the individual affected by PCOS shares common characteristics of this disease.  Twin studies concluded that the heritability of PCOS is around 70%.  The two genetic studies that are used in this paper are Genome-Wide Association Studies (GWAS) and candidate gene studies. Each study looks for different aspects of PCOS in genes.  

1 comment:

  1. I also did a post about PCOS! I did not use these articles though so it was really interesting to read more articles on it. I really enjoyed your post.