Turner syndrome (TS) is a genetic disorder that affects 1 in 2500 girls. It occurs when one of the two X chromosomes normally found in females is partially or completely missing. As a result, girls with TS face diverse medical and developmental problems to varying degrees. Two primary issues affect all girls with TS:
Fertility preservation helps women retain their ability to have children using their eggs. Though Dr. Oktay often uses preservation procedures when chemotherapy or radiation treatments will damage the ovaries, he now uses them increasingly more commonly for other medical reasons such as the Turner’s Syndrome. The two most common preservation techniques are:
Egg freezing or mature oocyte cryopreservation: Mature eggs are harvested from the ovaries, frozen unfertilized, and stored for later use.
Ovarian tissue cryopreservation (freezing): The outer layer of each ovary contains many immature eggs. Part or all of the ovary can be removed and frozen, saving numerous eggs for future use. This procedure has been successfully used in cancer patients but remains experimental.
Egg cryopreservation is an option for girls with TS who have reached puberty and started to menstruate. Dr. Oktay can perform ovarian tissue cryopreservation at any age. However, it remains an experimental procedure in girls with TS because, as of September 2017, no girl with Turner Syndrome who has frozen ovarian tissue has had it transplanted back. It is also true for egg freezing. This is because the oocyte and ovarian tissue freezing have only recently been used for girls with Turner Syndrome and they have not reached an age to be ready to have children.
Fertility preservation for children and young women with TS (Turner Syndrome) is making rapid progress thanks to the research and expertise of Dr. Oktay. He was the first specialist to report successful egg cryopreservation in girls with TS as young as 13.
Dr. Oktay and colleagues published the first comprehensive guidelines for fertility preservation in women with TS in October 2016. His recommendations include:
Early fertility counseling: Dr. Oktay recommends counseling as soon as a diagnosis of TS is made because eggs can be depleted in the first few years of life. Ovarian tissue cryopreservation can be offered to girls while they still have viable immature eggs.
Monitoring anti-Müllerian hormone (AMH): AMH is a reliable marker of the number of immature eggs in the ovaries. By frequently monitoring AMH, Dr. Oktay can consider fertility preservation only when it’s absolutely necessary. When AMH levels decline in consecutive measurements and fall below a certain threshold, it’s a sign that eggs are rapidly depleting and fertility preservation may be needed.
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