Polycystic ovary syndrome (PCOS) is the most common hormonal disorder for reproductive-aged women, and yet many aspects of the disorder remain a mystery.
issued by the Endocrine Society and published in Endocrine Reviews said that more research needs to be done on PCOS, which affects up to 5 million women and is tied to infertility. The symptoms caused by the disorder are diverse and can vary among individual women, and a "lingering controversy" is whether or not the disorder even exists -- or if it's the manifestation of other symptoms, according to the statement, which was authored by , at Pennsylvania State University College of Medicine.
In particular, three areas where more research is needed were presented: diagnosis and epidemiology, pathophysiology, and molecular genetics.
"We can diagnose [PCOS], we have treatments for all the symptoms, but we have a long way to go to understanding what causes it, what can prevent it, and most importantly to patients finding a single effective treatment that addresses all symptoms," said Legro in an email to 鶹ý.
As to why PCOS has remained understudied, Legro said that there are multiple barriers to understanding, including that it is difficult to track -- "it develops with menarche and disappears with menopause" -- and many of the symptoms are treated or at least masked by contraceptive pills or breastfeeding.
"I think there has been limited interest because it only affects women and because the long term effects of mortality are uncertain (unlike, for example, breast cancer)," wrote Legro. "This however is not meant to subtract from the nearly lifetime burden of symptoms and diminished quality of life that these women experience."
With regards to diagnosis, the authors of the statement wrote that ideally PCOS would be diagnosed in early adolescence so that it can be tracked (both the Endocrine Society and the have guidelines for diagnosing PCOS). "This will help us better determine the value of interventions that target PCOS," they wrote. There's also a paucity of animal and in vitro studies, so it's unclear how the endocrine factors influence reproduction and metabolism.
For genetics, enough studies have been done to show that there is no single gene for PCOS -- rather, multiple genes "contribute small amounts of predisposition," according to Legro. But the specific genes that play a role are largely unknown. There's also limited evidence that epigenetics plays a role, the authors noted.
"Future epigenetic studies may provide insight into the relationship between the intrauterine environment and the parental genetic contribution to the development of PCOS," they wrote.
Legro added: "If health care providers were armed with better strategies for diagnosing PCOS in teenage girls, they would be able to intervene sooner to address risk factors for diabetes and cardiovascular disease."
Disclosures
One author disclosed relationships with Ferring, Genovum, Merck-Serono, Organon, Schering-Plough, and Serono. Others reported relationships with Astra Zeneca, Euro-screen, Clarus Therapeutics, Takeda, Kindex, and Sprout.
Primary Source
Endocrine Reviews
Dumesic D, et al "Scientific Statement on the diagnostic criteria, epidemiology, pathophysiology, and molecular genetics of polycystic ovary syndrome" Endo Rev 2015; DOI: 10.1210/er.2015-101.