Primary Ovarian Insufficiency (POF, Premature Ovarian Failure, POI)

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How is primary ovarian insufficiency diagnosed?

The key signs of POI are:

  • Missed or irregular periods for 4 months, typically after having had regular periods for a while
  • High levels of follicle-stimulating hormone (FSH)
  • Low levels of estrogen4,6,13

If a woman is younger than age 40 and begins having irregular periods or stops having periods for 4 months or longer, her health care provider may take these steps to diagnose the problem:

  • Do a pregnancy test. This test will rule out an unexpected pregnancy as the reason for missed periods.4
  • Do a physical exam. During the physical exam, the health care provider looks for signs of other disorders. In some cases, the presence of these other disorders will rule out POI. Or, if the other disorders are associated with POI, such as Addison's disease, a health care provider will know that POI may be present.4
  • Collect blood. The health care provider will collect your blood and send it to a lab, where a technician will run several tests, including:
    • Follicle-Stimulating Hormone (FSH) test. FSH signals the ovaries to make estrogen, sometimes called the "female hormone" because women need high levels of it for fertility and overall health. If the ovaries are not working properly, as is the case in POI, the level of FSH in the blood increases. The health care provider may do two FSH tests, at least a month apart. If the FSH level in both tests is as high as it is in women who have gone through menopause, then POI is likely.4
    • Luteinizing (pronounced LOO-tee-uh-nahyz-ing) hormone (LH) test. LH signals a mature follicle to release an egg. Women with POI have high LH levels, more evidence that the follicles are not functioning normally.1
    • Estrogen test. In women with POI, estrogen levels are usually low, because the ovaries are not functioning properly in their role as estrogen producers.1,6
    • Karyotype (pronounced KAR-ee-uh-tahyp) test. This test looks at all 46 of your chromosomes to check for abnormalities. The karyotype test could reveal genetic changes in the structure of chromosomes that might be associated with POI and other health problems.1,4
  • Do a pelvic ultrasound. In this test, the health care provider uses a sound wave (sonogram) machine to create and view pictures of the inside of a woman's pelvic area. A sonogram can show whether or not the ovaries are enlarged or have multiple follicles.4,11

The health care provider will also ask questions about a woman's medical history. He or she may ask about:

  • A blood relative with POI or its symptoms
  • A blood relative with Fragile X syndrome or an unidentified intellectual or developmental disability
  • Ovarian surgery
  • Radiation or chemotherapy treatment
  • Pelvic Inflammatory Disease or other sexually transmitted infections
  • An endocrine disorder, such as diabetes4

If they do not do tests to rule out POI, some health care providers might assume missed periods are related to stress.4 However, this approach is problematic because it will lead to a delay in diagnosis; further evaluation is needed.4

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