Other Primary Ovarian Insufficiency (POI) FAQs

In some women, POI is associated with a change or mutation in the gene that causes Fragile X syndrome. This condition is called Fragile X-associated POI, or FXPOI.

Fragile X syndrome is the most common inherited cause of intellectual and developmental disability. It results from a mutation (change) in the Fragile X Messenger Ribonucleoprotein (FMR1) gene, which is located on the X chromosome.

Women who have FXPOI do not have Fragile X syndrome or symptoms of intellectual or developmental disability. They have what is called a "premutation" of the gene—a smaller change in the gene that does not affect intellectual or developmental functioning. Instead, the premutation somehow affects the ovaries and how they function.

Estimates suggest that about 1 woman in 250 has the genetic premutation linked to FXPOI.¹ Among women with POI, about 1 in 33 has the FMR1 gene premutation, meaning they actually have FXPOI.²

If you have POI and are concerned about the FMR1 premutation, talk to your healthcare provider about genetic testing for the condition.^2,3

If you already know you have the FMR1 premutation, talk with your healthcare provider about finding out if you have FXPOI.⁴

For more information about FXPOI, visit the Fragile X-Associated Primary Ovarian Insufficiency section of this website.

POI causes infertility for most women with the condition. At this time, there is no proven medical treatment that improves your ability to get pregnant naturally if you have POI.⁵

If you have been diagnosed with POI, don't rush into making decisions about family planning. Take time to talk with your healthcare provider and to research your options. Share your feelings with your partner, and listen to your partner's feelings.⁶

If you have POI and want to have children, consider the following options:

See if pregnancy occurs naturally. Between 5% and 10% of women with POI do get pregnant, even though they have not had fertility treatment. Sometimes pregnancy can occur many years after the initial POI diagnosis. Researchers don't know why some women with POI get pregnant while others do not, and researchers can't predict which women will get pregnant.⁷

Adoption or foster parenting. When considering adoption or foster parenting, it's important to learn about the benefits, risks, and legal aspects of the process, in addition to the possible emotional effects. For more information about adoption, consult the resources in the Resources and Publications section.

Donor Eggs. Research has shown that in vitro fertilization (IVF) with donor eggs is an effective way for women who have POI to get pregnant.⁵

IVF with donor eggs involves removing eggs from another woman's ovary, then fertilizing the eggs with sperm in a laboratory. A fertilized egg—called an embryo—is then placed into your uterus. During the IVF process, the donor takes hormones to prepare for egg donation, and you take hormones to prepare your body for pregnancy.⁸

Sometimes, more than one embryo is placed into the uterus to increase the likelihood of a successful pregnancy. More eggs may be fertilized than are transferred; you may choose to freeze extra embryos, called cryopreservation, in case you try IVF again.⁹

IVF with donor eggs, like all medical procedures, has benefits and risks, some of them serious.⁸ Some studies suggest that women with POI who get pregnant with egg donation may have a higher risk of delivering a baby that is small for its gestational age (smaller than the usual size of babies that far along in pregnancy). They may also be more likely to have pregnancy-related high blood pressure⁷ and heavy bleeding after giving birth. More studies are needed to understand these risks and their relationship to POI. Discuss all the risks and benefits with your healthcare provider and your family before making a decision about IVF with donor eggs.

Not all insurance companies provide coverage for IVF and donor eggs, so it may be necessary for you to cover the entire cost of the process. Also, it may be necessary to try the procedure several times before it is successful.⁸

Medical Therapies that Don't Work for POI-related Infertility

Randomized clinical trials, which are the strongest type of trial measuring a treatment's impact, have proven that some medical therapies for infertility—including infertility related to POI—are ineffective. These medical therapies include treatments based on high-dose estrogen, corticosteroids, gonadotropin-releasing hormone agonists and antagonists, as well as treatment with a type of testosterone called danazol (Danocrine®). Healthcare providers recommend avoiding unproven fertility treatments because they actually may reduce your chances of getting pregnant naturally.

If You have POI and Do Not Want to Become Pregnant

Remember that pregnancy can occur in women who have POI. Therefore, if you do not want to get pregnant, you need to take steps to prevent pregnancy by using contraception (birth control).

Because of problems with ovulation that are associated with POI, birth control pills may not be effective at preventing pregnancy in women with POI. Studies show that using a barrier method of contraception, such as a diaphragm or a condom, is a more effective option.⁸ Discuss your birth control needs with your healthcare provider.