Premature ovarian failure (POF) or Primary ovarian insufficiency (POI) is a condition characterized by amenorrhea, low estrogen levels, and elevated serum gonadotropin levels (FSH and LH) in women younger than 40 years. Although often used as synonyms, POF and menopause are not equivalent. Most women with POF retain intermittent ovarian function for many years, and, unlike women who are menopausal, pregnancies may occur. Premature ovarian failure represents the end stage of a variety of disorders that result in the loss of ovarian follicles.
The most common known causes of POF are:
- iatrogenic; following surgery, radiotherapy, or chemotherapy,
- chromosomal and genetic aberrations,
- autoimmune ovarian damage,
- environmental factors (viruses, chemical agents, radiation, etc.),
- metabolic (diabetes type 1, galactosaemia, 17-OH deficiency, 21-OH deficiency, etc.),
It is suggested that approximately 6% of women with spontaneous POF have mutations in the FMR1 gene. This is the gene mutation responsible for fragile X syndrome -the most common cause of hereditary mental retardation. The risk of a woman having this mutation is higher if she has a family history of premature ovarian failure. Around 14% of women with a family history of POF will have an FMR1 mutation as compared with 2% of women who have no family history of POF.
Autoimmune disease occurs when the body’s immune system attacks itself. Ovaries can be subject to a poorly defined autoimmune attack associated with thyroid autoimmunity, anti-adrenal autoimmunity, and other non-organ-specific autoimmune responses.
Women with POF experience some symptoms of menopause including menstrual irregularities, hot flashes, night sweats, sleep disturbance, and vaginal dryness. Other symptoms may include mood swings, energy loss, low sex drive, painful sex, and bladder control problems. These women are also at an increased risk for developing osteoporosis (bone thinning which can lead to fracture) and heart disease.
Unfortunately, there has not been a treatment developed to improve ovarian function and increase the pregnancy rate in POF patients. There are hormone replacement therapies available to treat the symptoms that result from low estrogen levels. There has been no medication, hormone, or other treatment that results in pregnancy occurring more often than it does without any treatment at all.
The only therapy that significantly improves the likelihood of a pregnancy in a woman with POF is egg donation. Egg donation is a form of in vitro fertilization in which eggs are removed from an “egg donor”, fertilized and then placed into the hormonally prepared uterus of the woman with POF. Since she is not using her own eggs, the chance for pregnancy using egg donation in a woman with POF is very high.