A New Gene Variant Is Linked to Early Menopause and Primary Ovarian Insufficiency: Here’s What to Know

Menopause is often considered a natural part of aging, but for some women, it can come much earlier than expected. A recent study has uncovered an early menopause gene variant, potentially changing the way we think about reproductive health and genetic risk factors.

To better understand what this discovery means, we spoke to medical professionals specializing in women’s health, who shared insights on the findings and how they may impact early menopause management.

Details on the early menopause gene

Researchers from the University of Iceland and deCODE genetics in Reykjavík recently identified a variant in the CCDC201 gene that can cause early menopause when two copies are inherited. The researchers conducted a genome-wide association study from more than 174,000 postmenopausal women in Iceland, Denmark and the United Kingdom.

“The CCDC201 gene has been linked to premature ovarian insufficiency,” explains Navya Mysore, MD , Medical Director of Women’s Health at Nurx. “The person can express the gene when they have inherited two copies of a mutated version of the CCDC201 gene, one from each parent — this is called homozygous expression.”

The study, published in Nature Genetics on August 27, found that women with two copies of the variant caused a complete dysfunction of CCDC201. As a result, women experienced menopause an average of nine years earlier than those without the variant. Nearly half of these women also developed primary ovarian insufficiency (POI).

Moreover, women with the homozygous expression have fewer children and rarely give birth after the age of 30. The study’s authors emphasize the importance of considering different genetic models to fully understand the factors contributing to early menopause and POI.

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What is early menopause?

“Menopause is signaled by 12 months since your last period,” explains Dr. Mysore. “Early menopause occurs when a woman's periods stop before the age of 45, while premature menopause occurs before the age of 40 (premature ovarian insufficiency).”

While Dr. Mysore says that the average age of menopause in America is 51, women who experience early menopause may face unique health challenges, including a higher risk of osteoporosis and cardiovascular disease . It can also affect fertility, emotional well-being and overall quality of life.

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The role of primary ovarian insufficiency

One condition that can trigger early menopause is POI. “Also known as premature ovarian insufficiency, [POI] is a condition that occurs when a woman's ovaries stop working normally before age 40,” says Dr. Mysore. This can lead to irregular periods or the complete cessation of menstruation.

“[POI] occurs in about 1 in 100 women; about 5-7 percent of women will be menopausal by age 45. The vast majority of these women do not have these genes [in the study],” adds Mary Jane Minkin, MD , Gynecologist at Yale Medicine. Women with POI may experience symptoms similar to menopause.

What the early menopause gene may mean for you

If the findings of this study are confirmed, they could open the door for more personalized health care. “If we are able to identify early on that a patient may develop POI, they can be more empowered to make informed reproductive choices and get ahead of the symptoms associated with early menopause,” says Dr. Mysore. This is especially notable for those at risk with a family history of early menopause.

Importantly, the study’s findings represent a rare case of early menopause. “These genes were found in only one out of 10,000 women of northern European descent; so this is a very rare cause of very early menopause,” explains Dr. Minkin. “As of the moment, I don't think that it will be recommended that all women be screened for a gene that occurs in only one out of 10,000 women. But more research on other genetic factors is always welcome.”

If you’re experiencing symptoms of early menopause or POI, such as irregular periods, hot flashes , night sweats or difficulty getting pregnant, it’s important to speak with your healthcare provider. They can conduct tests to evaluate ovarian function and hormone levels.

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