POF Overview

PREMATURE OVARIAN FAILURE OVERVIEW

Premature ovarian failure (POF) is a condition in which the ovaries stop functioning normally in women who are younger than 40. The condition used to be called “premature menopause,” but that term is misleading, because women with premature ovarian failure do not always stop menstruating, and their ovaries do not always completely shut down [1]. That’s important to keep in mind, because the diagnosis of premature ovarian failure does not always mean that pregnancy is impossible. What’s more, the condition does not imply that a woman is aging prematurely. It simply means that her ovaries are faltering. Another term used for POF is primary ovarian insufficiency (POI). This term is likely to replace the term POF in the near future.

In women with premature ovarian failure, the ovaries:

Stop releasing eggs, or release them only intermittently; and
Stop producing the hormones estrogen and progesterone, or produce them only intermittently.
Given these effects, premature ovarian failure makes pregnancy unlikely. Learning of this can be emotionally devastating to some women, especially if they have not had children or want more children. For them, the diagnosis squelches dreams of motherhood. If that is true for you, take some time to learn about your options.

Take time, too, to honor your feelings of grief and loss. Being diagnosed with premature ovarian failure can be a life-changing experience [2]. It is natural to feel down, but be mindful of depression. You may even want to seek out counseling or to participate in a support group for women with premature ovarian failure. If you have a partner, remember that he or she may also be affected by your diagnosis, so it might be useful to find support for the two of you.

PREMATURE OVARIAN FAILURE CAUSES — In the vast majority of cases, healthcare providers do not know why premature ovarian failure occurs. Some cases of the condition can be explained by genetic abnormalities, exposure to toxins, or autoimmune disorders, but most cases are “idiopathic,” meaning they have no known cause [3]. Even so, it’s important for women to be tested for the known causes of premature ovarian failure. Some of the known causes may be associated with other effects on your health or the health of your family members.

Genetic causes — Genetic causes of premature ovarian failure may be due to abnormal chromosomes or abnormal individual genes. Chromosomes are structures that house thousands of genes. Chromosomal abnormalities that lead to premature ovarian failure include:

Turner syndrome — The sex of a person is determined by their complement of X and Y chromosomes. Women normally have two X chromosomes, while men have one X chromosome and one Y chromosome. In Turner syndrome, women have only one X chromosome; the other one is missing. The lack of a second X chromosome (Turner syndrome) is the most common chromosomal defect in humans. It causes abnormalities throughout the reproductive system and can cause premature ovarian failure. Missing just a portion of one X chromosome (a critical portion) can also cause premature ovarian failure.
Fragile X syndrome — Fragile X syndrome is the most common cause of intellectual disability (mental retardation) worldwide. People who have fragile X have a defective gene on the X chromosome. Those who have the defective gene do not always have mental retardation, but the genetic abnormality can worsen with each successive generation; hence, a woman whose premature ovarian failure is caused by a change in the fragile X gene is at risk of having an intellectually disabled baby, if she is able to conceive and give birth. For this reason, women who are carriers for the abnormality in the fragile X gene are advised to undergo genetic counseling before trying to get pregnant.
Other chromosomal and genetic causes — Several other chromosomal and genetic abnormalities can lead to premature ovarian failure. For example, some women have Y chromosome material, even though the Y chromosome should exist only in men. Although this condition is rare, women who have Y chromosome material need to have their ovaries removed because the abnormality can cause ovarian tumors. Other genetic abnormalities that can cause premature ovarian failure include those that impair normal hormonal function.
Toxic causes — The most common causes of toxin-induced ovarian failure are chemotherapy drugs and radiation therapy, both of which are used to treat cancer (See “Ovarian failure due to anticancer drugs and radiation”). Other toxic causes of ovarian failure may include certain viruses.

Autoimmune causes — The job of the immune system is to identify and destroy foreign or abnormal cells that can cause infection, cancer, or other problems. Unfortunately, the immune system sometimes misdirects its efforts and begins attacking the body’s normal, healthy cells. In some cases of premature ovarian failure, the immune system mistakenly attacks hormone-producing (endocrine) organs, including not only the ovaries but also the adrenal glands, the thyroid glands, and other structures.

Women whose ovarian failure is caused by an autoimmune disorder should have their adrenal and thyroid function evaluated. If the adrenal glands are affected, it can cause a very serious and potentially life-threatening condition called primary adrenal insufficiency (Addison’s disease).