POF and Genetics
Dr. Andrew Shelling's POF FAQ

1. Is POF hereditary?

Yes, POF can be hereditary (also known as familial POF). We're not sure of the exact figure, but several studies have shown that about 5% (one in twenty) of all cases of POF have a hereditary component, whereby several members of the same family have early menopause. The other 95% of people with POF will have no family history, and are called sporadic cases. If there is a family history of POF, other members of your family may have inherited a defective chromosome or a mutated gene. They may be at risk of POF, and should make careful reproductive choices.

2. What is the cytogenetic test supposed to identify?

When the Doctor sends away for a chromosome (or cytogenetic) test, they are checking to see if there are any significant chromosomal changes by looking at the chromosomes under a microscope. The test is usually performed in women with POF under the age of 30, but may have value for all women with POF. Changes usually involve the X chromosome. There are several possible changes to the X chromosome, sometimes it is missing completely (Turners syndrome), sometimes parts are missing (deletions), and sometimes parts are swapped with other chromosomes (translocation). Sometimes "mosaic" X chromosomes are identified, where different cells in the body have different numbers of X-chromosomes. The identification of a chromosome abnormality within an individual may influence other family members who have the same defect.

3. What other genetic tests are available?

Most of the genetic causes of premature ovarian failure aren't caused by an obvious chromosomal change. Instead they may be caused by changes in genes, called gene mutations. Gene mutations may be involved in both sporadic and familial POF. They can't be seen under a microscope, and specific genetic tests would need to be performed to find them. At the moment, we don't know what genes are involved in POF, and their is no specific gene tests available.

4. Is there a link between fragile-X syndrome and premature menopause?

Yes, there is a suggested link with Fragile X, and there have been several reports showing those females in families with a fragile X male experienced an earlier menopause. In some studies menopause has been shown to occur several years earlier than normal, but in some women it can occur much younger (under age 40). Not all studies have shown a relationship, and there a lot of research is required to try and understand more about it.