KLINEFELTER - the implications of Klinefelter - women?

Klinefelter Syndrome occurs in a small percentage of men with an extra X chromosome, 47,XXY males. Despite having an extra X chromosome, such men are able to produce viable sperm. But with the extra X chromosome, Klinefelter men are somewhat genetically similar to normal women with two X chromosomes, 46,XX women. It is promising then to consider adding an artificial Y chromosome to a women's cells to help make female sperm.

But are female cells with a Y chromosome viable? Could women with such cells be healthy? Surprisingly, the answer is YES. In 2000, scientists in Germany reported a normal, healthy woman with a partial Y chromosome, A SRY-negative 47,XXY mother and daughter. Not only did the adult women have a healthy body, she was able to have children, one of whom was a daughter who also had an extra Y chromosome. This indicates that female cells with an extra Y chromosome are both viable plus undergo the normal cellular divisions of mitosis and meiosis.

More interestingly, the work of Antonin Bukovsky and others at the University of Kentucky, has determined that adult women have diploid germ cells present on the surface of the ovary - ovarian surface eputhelium (OSE) cells are totipotent germ line-competent. OSE stem cells from these SRY-negative 47,XXY women would be ideal for immediate testing to determine the ease of their conversion into sperm. A review paper on diploid adult female germ cells by Bukovsky is at: "Ovarian Germ Cells"(2006)