Could Your Genes Explain Why Your Periods Stopped Before 40?
Imagine being in your 20s or 30s, watching your periods become irregular or disappear, and not knowing why.
That's the reality for many women with premature ovarian insufficiency (POI), a condition in which the ovaries stop working normally before age 40.
It can affect fertility and cause symptoms linked to lower estrogen, yet about two-thirds of cases have no known cause.
A recent study explored whether a closer look at women's genes could provide some answers.
About the study
Researchers in Estonia wanted to know whether a more thorough look at someone's genes could help explain POI when the usual tests don't find a cause.
They used a broad genetic test on 51 women with unexplained POI, looking for genetic changes that could be linked to the condition.
The researchers then did additional testing to make sure potential findings were real.
Genetic testing is already part of the recommended evaluation for POI, but doctors don't always have a clear way to look for every possible genetic cause.
This study tested whether a broader approach could uncover some of those missing answers.
The answers were more common among women whose periods never started
The broader testing identified a likely genetic cause for 6 of the 51 women. But when researchers broke the group down by menstrual history, the difference became clearer.
Nine women in the study had never had a period.
Of those, 5 received a likely genetic diagnosis. The remaining 42 women had started having periods normally before they stopped later in life, and only 1 received a genetic explanation.
Researchers also found several genetic changes that might be related to POI but couldn't yet confirm that they were causing it. So, while the testing gave some women an answer, most participants still didn't have a clear explanation.
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Why finding the cause can matter
Getting an explanation doesn't reverse POI, but it can give women and their doctors more information to work with.
Some genetic causes can be linked to health concerns beyond fertility. Knowing what's behind POI may help doctors decide what to monitor and give close family members the option to get tested themselves.
A diagnosis can also help inform conversations about hormone therapy, fertility preservation, and family planning.
Still, this was a small study of 51 women, all of European ancestry and living in Estonia. The findings may not apply to other populations.
And a negative genetic test doesn't necessarily mean genetics aren't involved. Researchers may simply not know all the genes that contribute to POI yet.
What to consider if you have unexplained POI
If you've been diagnosed with POI and standard testing hasn't found a cause, genetic testing may be worth discussing with your doctor.
- Your periods never started: This was the group most likely to receive a genetic diagnosis.
- Reproductive issues run in your family: Mention relatives with unusually late first periods, irregular cycles, early loss of ovarian function, or unexplained infertility.
And don't assume POI is simply "early menopause." The two aren't the same, and menstrual changes in your 20s or 30s deserve a proper evaluation.
The takeaway
Broader genetic testing helped identify a possible cause for certain women with unexplained POI, particularly those whose periods had never started.
The findings suggest genetic testing may offer another route to answers, and offer insights into other health concerns monitoring could benefit.