It is a condition that affects an estimated one in 10 women of reproductive age in the United States. However, little is known about the causes and proper diagnosis of polycystic ovarian syndrome (PCOS). Since PCOS was first discovered in 1935 doctors have diagnosed the syndrome based on the symptoms associated with it like facial hair growth, weight gain, irregular periods, and large ovaries with an abundance of eggs (so-called "cysts"). However, that could be changing as researchers begin to understand possible genetic links to PCOS.
"The study is the first to identify genetic variants, changes in the DNA that make up our genes, that put Caucasian women at risk for PCOS," says Corrine Welt, MD, an endocrinologist with University of Utah Health who was part of the research team.
The study looked at the genes of more than 2,000 women of European background from all over the globe who suffer from PCOS. They then compared those genes against the genes of women who do not have the syndrome. One difference they found was in the genes for reproductive hormones from the pituitary gland, and the receptors of those hormones in the ovaries.
While doctors knew the pituitary gland was involved with PCOS previously, they did not see a causal relationship. "Until this new study, the pituitary was not thought to be the driver of PCOS, but a passenger in the syndrome," says Welt. "The increased pituitary hormones were not even considered a critical abnormality in the diagnosis."
The research doesn't stop with the discovery of the link to the pituitary gland though. "The pituitary gland will probably explain the cause in a subset of women with PCOS," says Welt. "The study found many other genetic risk variants that will likely explain the cause in other subsets of women with PCOS."
With the understanding of the genetic causes of PCOS, not only will doctors be able to better understand the underlying causes, they will be better able to tailor treatment for patients.
"There are several treatments already available for women with PCOS, but some work only for 50-60% of patients," says Welt. "With these new findings, we may now be able to look at the underlying cause of PCOS in each woman and determine if many of the already available treatments are likely to work. … The hope is that we will be able to understand the underlying cause of PCOS in each woman so that treatment can be targeted appropriately."
For more information about PCOS check out these podcasts from The Scope.
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