Genetic analysis suggests distinct subtypes of polycystic ovary syndrome

June 23, 2020

WHAT: Polycystic ovary syndrome (PCOS), an infertility disorder affecting at least 15% of reproductive-age women, may have at least two different subtypes, suggests a study funded by the National Institutes of Health. The findings could provide important information on the possible causes of PCOS and for developing more effective ways to treat the condition. The study appears in PLOS Medicine and was funded by NIH's Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) and National Institute of Diabetes and Digestive and Kidney Diseases.

PCOS is characterized by irregular or missing menstrual periods (due to lack of or infrequent ovulation), high levels of androgens (male hormones) and small cysts on the ovaries. Women with PCOS are also at higher risk of diabetes and heart disease.

The current study analyzed the genes of nearly 900 women who had irregular menstrual periods. Researchers categorized them according to their body mass index (BMI) and levels of glucose, insulin and reproductive hormones, including androgens. Their analysis revealed two PCOS subtypes, each associated with distinct groups of gene variants. The reproductive subtype, about 23%, had higher levels of luteinizing hormone (LH), a pituitary hormone that regulates the ovaries, and sex hormone binding globulin (SHBG), a protein that transports estrogen and androgens. This subtype also tended to have a lower BMI and lower insulin levels than the others.

The metabolic group, roughly 37%, had a higher BMI, higher glucose and insulin levels and lower levels of SHBG and LH. The remaining women had no clear combinations of traits but had a greater frequency of gene variants associated with PCOS, suggesting that this group may be distinct from the others. Understanding the genes underlying these subtypes may yield new ways to diagnose PCOS and develop personalized treatments.
-end-
The study was conducted by Andrea Dunaif, M.D., of the Mount Sinai Health System in New York City, and colleagues.

WHO: Esther Eisenberg, M.D., a reproductive endocrinologist and medical officer in the NICHD Fertility and Infertility Branch, is available for interviews.

ARTICLE: Dapas, M, et al. Distinct subtypes of polycystic ovary syndrome with novel genetic associations: An unsupervised, phenotypic clustering analysis. PLOS Medicine.2020.

About the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD): NICHD leads research and training to understand human development, improve reproductive health, enhance the lives of children and adolescents, and optimize abilities for all. For more information, visit https://www.nichd.nih.gov.

About the National Institutes of Health (NIH): NIH, the nation's medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit https://www.nih.gov.

NIH/Eunice Kennedy Shriver National Institute of Child Health and Human Development

Related Insulin Articles from Brightsurf:

US Insulin prices 8 times higher than in other nations
Insulin list prices in the United States have increased dramatically over the past decade, with per person insulin spending doubling between 2012 and 2016.

A gatekeeper against insulin resistance in the brain
The brain plays a major role in controlling our blood glucose levels.

Sorting and secreting insulin by expiration date
Visualizing the age of insulin secreting granules in cells allowed researchers to investigate how cells' preference for secreting newer granules is disrupted in diabetes.

Researchers develop a new ultrafast insulin
Stanford researchers tested a new insulin drug in diabetic pigs and found that it was twice as fast-acting as traditional insulin.

Insulin signaling suppressed by decoys
The discovery of an insulin 'decoy' molecule from the lab of Matthew Gill, PhD, in Florida shakes up understanding of insulin signaling, with implications for diabetes, longevity and aging research.

New mechanism for dysfunctional insulin release identified
In a new study, researchers at Uppsala University have identified a previously unknown mechanism that regulates release of insulin, a hormone that lowers blood glucose levels, from the β-cells (beta cells) of the pancreas.

Type 2 diabetes is not just about insulin
Obesity, by promoting the resistance to the action of insulin, is a major risk factor of diabetes.

The insulin under the influence of light
By understanding how the brain links the effects of insulin to light, researchers (UNIGE) are deciphering how insulin sensitivity fluctuates according to circadian cycles.

Does insulin resistance cause fibromyalgia?
Researchers led by a team from The University of Texas Medical Branch at Galveston were able to dramatically reduce the pain of fibromyalgia patients with medication that targeted insulin resistance.

Insulin insights
Insulin triggers genome-wide changes in gene expression via an unexpected mechanism.

Read More: Insulin News and Insulin Current Events
Brightsurf.com is a participant in the Amazon Services LLC Associates Program, an affiliate advertising program designed to provide a means for sites to earn advertising fees by advertising and linking to Amazon.com.