How do healthcare providers diagnose POI?

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 estrogen1,2,3

If a woman is younger than age 40 and begins having irregular periods or stops having periods for 4 months or longer, her healthcare 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.2
  • Do a physical exam. During the physical exam, the healthcare 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 healthcare provider will know that POI may be present.2
  • Collect blood. The healthcare 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 healthcare 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.2
    • Luteinizing 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.4
    • Estrogen test. In women with POI, estrogen levels are usually low, because the ovaries are not functioning properly in their role as estrogen producers.4
    • Karyotype 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.2,4
  • Do a pelvic ultrasound. In this test, the healthcare 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.2,5

The healthcare 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 diabetes2

If they do not do tests to rule out POI, some healthcare providers might assume missed periods are related to stress.2 However, this approach is problematic because it will lead to a delay in diagnosis; further evaluation is needed.2

Citations

  1. De Vos, M., Devroey, P., & Fauser, B. C. (2010). Primary ovarian insufficiency. Lancet, 376, 911–921.
  2. Nelson, L. M. (2009). Primary ovarian insufficiency. New England Journal of Medicine, 360, 606–614.
  3. Rebar, R. W. (2009). Premature ovarian failure. Obstetrics and Gynecology, 113(6), 1355–1363.
  4. American Congress of Obstetricians and Gynecologists. (2009). Premature ovarian failure. ACOG medical student teaching module [PowerPoint slides]. Retrieved January 3, 2012, from https://www.acog.org/clinical/clinical-guidance/committee-opinion/articles/2014/07/primary-ovarian-insufficiency-in-adolescents-and-young-women?utm_source=redirect&utm_medium=web&utm_campaign=otn external link
  5. Kodaman, P. H. (2010). Early menopause: Primary ovarian insufficiency and surgical menopause. Seminars in Reproductive Medicine, 28, 360–369.