What is POI?
Many women naturally experience reduced fertility when they are around 40 years old. This age may mark the start of irregular menstrual periods that signal the onset of menopause. For women with POI, irregular periods and reduced fertility occur before the age of 40, sometimes as early as the teenage years.3,4
In the past, POI used to be called "premature menopause" or "premature ovarian failure," but those terms do not accurately describe what happens in a woman with POI. A woman who has gone through menopause will never have another normal period and cannot get pregnant. A woman with POI may still have periods, even though they might not come regularly, and she may still get pregnant.2,4
Who is at risk?
Several factors can affect a woman's risk for POI:
- Family history. Women who have a mother or sister with POI are more likely to have the disorder. About 10% to 20% of women with POI have a family history of the condition.5
- Genes. Some changes to genes and genetic conditions put women at higher risk for POI. Research suggests that these disorders and conditions cause as much as 28% of POI cases.6 For example:
- Women who carry a variation of the gene for Fragile X syndrome are at higher risk for Fragile X-Associated POI (FXPOI).7 Fragile X syndrome is the most common inherited form of intellectual and developmental disability, but women with FXPOI do not have Fragile X syndrome itself. Instead, they have a change or mutation in the same gene that causes Fragile X syndrome, and this change is linked to FXPOI. Visit the What is the connection between POI and Fragile X syndrome? section of the site for more information.
- Most women who have Turner syndrome develop POI. Turner syndrome is a condition in which a girl or woman is partially or completely missing an X chromosome. Most women are XX, meaning they have two X chromosomes. Women with Turner syndrome are X0, meaning one of the X chromosomes is missing.
- Other factors. Autoimmune diseases, viral infections, chemotherapy, and other treatments also may put a woman at higher risk of POI.5
- American Congress of Obstetricians and Gynecologists. (2009). Premature ovarian failure: ACOG medical student teaching module [PowerPoint slides]. Retrieved January 3, 2012, from http://classic.acog.org/acog_districts/dist_notice.cfm?recno=17&bulletin=2720
- National Library of Medicine, Medline Plus. (2011). Premature ovarian failure. Retrieved January 4, 2012, from www.nlm.nih.gov/medlineplus/prematureovarianfailure.html
- American College of Obstetricians and Gynecologists. (2011). Primary ovarian insufficiency in the adolescent : Committee opinion no. 502. Obstetrics and Gynecology, 118, 741–745.
- Nelson, L. M. (2009). Primary ovarian insufficiency. New England Journal of Medicine, 360, 606–614.
- Cordts, E. B., Christofolini, D. M., Dos Santos, A. A., Bianco, B., & Barbosa, C. P. (2011). Genetic aspects of premature ovarian failure: A literature review. Archives of Gynecology and Obstetrics, 283, 635–643.
- Fridovich-Keil, J. L., Gubbels, C. S., Spencer, J. B., Sanders, R. D., Land, J. A., & Rubio-Gozalbo, E. (2011). Ovarian function in girls and women with GALT-deficiency galactosemia. Journal of Inherited Metabolic Disease, 34, 357–366.
- Trans-NIH Fragile X Research Coordinating Group and Scientific Working Groups. (2008). National Institutes of Health research plan on Fragile X syndrome and associated disorders. Retrieved January 4, 2012, from http://nichd.nih.gov/publications/pubs/Documents/NIH_Research_Plan_on_Fragile_X_and_Assoc_Disorders-06-2009.pdf (PDF - 439 KB)