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Premature Ovarian Failure (POF)

What is POF?
POF, or primary ovarian failure is also sometimes called premature ovarian insufficiency or POI.  POF is essentially loss of the normal function of the ovaries prior to age 40.  In addition to the eyelid malformations and other facial features seen in BPES, BPES type I is also associated with POF in women, which causes their menstrual periods to become less frequent and eventually stop before age 40. POF can lead to difficulty conceiving a child (subfertility) or a complete inability to conceive (infertility).

What causes POF?

In women with normal ovarian function, the pituitary gland releases certain hormones during the menstrual cycle, which causes a small number of egg-containing follicles in the ovaries to begin maturing. Usually, only one follicle — a sac that's filled with fluid — reaches maturity each month.
When the follicle is mature, it bursts open, releasing the egg. The egg then enters the fallopian tube where a sperm cell might fertilize it, resulting in pregnancy. 

In women with POF, the quantity and quality of eggs in the ovaries is abnormally low as a result of follicle depletion or follicle disruption before the age of 40.  It occurs in less than 1% of all women but is associated with BPES type 1.  The FOXL2 gene is not only involved in eyelid formation but also ovarian function and certain changes in the FOXL2 gene can also impact ovarian function leading to premature ovarian insufficiency. 

What complications can occur as a result of POF?
Complications of premature ovarian failure include:
  • Infertility-the inability to get pregnant may be the most difficult complication of premature ovarian failure, although in some cases, pregnancy is possible.
  • Osteoporosis-estrogen, which is produced by the ovaries, helps maintain strong bones. Women with low levels of estrogen have an increased risk of developing weak and brittle bones, also known as osteoporosis
  • Depression or anxiety-dealing with emotions surrounding infertility and low estrogen levels may cause depression or anxiety in some women
When do symptoms start to occur?
POF can affect individuals at different times and in different ways.  The onset of early menstrual cycles can happen as early as 5 years old, others late in their teens and sometimes never happen at all.  Menstrual cycles can vary greatly depending on the rate of POF for each individual. Cycles can be very light, heavy and/or very erratic.  This can be a very difficult time for the young female as hormones are going through natural paces but not always on the same time clock as females without POF.  For females who do not know the type of BPES that they have or if they are suspected to have BPES type 1 it is recommended that they see an endocrinologist at an early age to help guide them through the symptoms of POF, provide treatment if necessary and educate them on what options they may have for treatment or management of symptoms as well as resources for emotional support

What are possible treatments for infertility due to POF? 
Infertility is a difficult complication of premature ovarian failure.  Unfortunately, there is no proven method of stimulating the ovaries if POF is diagnosed. However, when the diagnosis of premature ovarian failure is made, therapeutic regimens are considered. There are several means of treatments that can be pursued.
  • Hormone Replacement Therapy 
  • Steroid Therapy
  • A short course of Estrogen Replacement Therapy may lower the FSH to an acceptable value before attempting ovulation induction with human menopausal gonadotropins. Administration of high dose human menopausal gonadotropins after priming with estrogen/progestogen replacement therapy has resulted in pregnancy in a small number of cases.
  • In vitro fertilization with egg donation or an adopted embryo.  A donor egg is fertilized with donor sperm or the partner’s sperm and then transferred to the woman’s uterus to hopefully achieve pregnancy.  An adopted embryo can also be transferred to the woman’s uterus to hopefully achieve pregnancy.
  • Adoption of a baby or child is another option families can consider.

​Visit our resources page for more resources about POF. 
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