Premature ovarian failure (POF) is when a woman stops menstruating, or having her period, before the age of 40. Premature ovarian failure 5 is a specific type of POF caused by a rare mutation in the NOBOX5 gene. In POF, the ovaries may stop functioning completely and menstruation will be absent, or the ovaries will remain partially functional and menstruation will occur less frequently. POF affects around 1 in 100 women. This condition is more prevalent in women over age 30 and in women with a family history of POF. The most common age of POF onset is 27.
Ovarian failure can occur as slowly as over the course of several years, or as quickly as over the course of a few months. An affected woman will typically begin skipping periods, with widening gaps of time between periods until they stop altogether. Symptoms of menopause, such as vaginal dryness, hot flashes, and mood swings, are often experienced. POF is also associated with infertility and increased risk of osteoporosis and heart disease.
POF can be diagnosed using a hormone test, as it is associated with high FSH (follicle stimulating hormone) and LH (luteinizing hormone) levels, which normally stimulate the ovaries. While there is currently no way to reverse POF, there are several treatment options including estrogen therapy that can help with the symptoms. If you have been diagnosed with POF 5, talk to your doctor about the most current treatment options. In addition, a genetic counselor can help discuss inheritance and risks to other family members. Support groups are a great source of information and can connect you with other women living with POF.