Flashing and Not Forty? What Would a Geneticist Say?

Infertility due to premature ovarian failure is not common, but when it occurs it could be a sign of a genetic disorder. The two most common genetic causes are that of Fragile X and Turner's syndrome, both of which could be tested by blood or even cheek tests. In fact the Premature ovarian failure infertility cases due to Fragile X gene disorder has it's own initals: FXPOI!  Some women may not actually stop having periods, they may have irregular bleeding, cramping, no ovulation. We learn more and more about Fragile X testing, and it is a fascinating disease with apparently many of the sufferers carrying what is known as a premutation disorder. In other words, some day you will express the mutation, but you haven't yet, and the mutation often will not express until adulthood in many individuals. Genetic testing is percolating through all aspects of medicine, gradually. It is expensive, and sometimes difficult to interpret, and not always possible to treat. Some doctors say, if it's not going to change the management of the case, why order the test. But genetic defects affect all family members, so there's a lot of potential management to affect. So the next time you're gabbing with your girlfriends, and you're fanning the most furiously in the group, and you've not gotten a straight answer as to why, think outside the box: to the X.


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