Turner Syndrome is a common genetic condition which is encountered in 1 in 2000 individuals. In general, the partial or complete absence of one X chromosome in or all or some of the body cells can lead to a number of developmental problems one of which is very high risk of premature ovarian failure. Over 90% of all girls with Turner Syndrome exhaust all their eggs by the time they reach puberty. Most others will lose their fertility by the time they reach adult age.
Until recently, there was no option for children with Turner Syndrome to preserve their future fertility. However within the recent years, we developed approaches that can be used in children to preserve fertility.
One of these approaches is ovarian tissue freezing which requires an outpatient laparoscopic procedure. Though this procedure is still considered experimental, in adults, over one third of all females who have cryopreserved their ovarian tissue before chemotherapy were able to have at least one child (Oktay et al American Journal of Obstetrics & Gynecology, 2015).
Another approach also reported by us recently is cryopreservation of oocytes from postpubertal children. We showed that in selective female children of as young as 13 years of age, egg retrievals can safely be performed (Oktay et al, Journal of Pediatric and Adolescent Gynecology, 2014).
In some very young prepubertal girls who have not yet shown significant ovarian reserve loss, we also developed a monitoring approach, which may allow us to intervene when it is absolutely necessary. That strategy is useful in allowing further development of small children so that for example, instead of experimental ovarian tissue freezing, more established egg freezing procedures can be performed at a later age.
Dr. Oktay recently chaired a group of experts under the auspices of the Turner Syndrome Foundation, which published its findings in the form of practical guidelines for preserving fertility in females with Turner Syndrome. This document reviews all fertility preservation strategies and fertility in girls with Turner syndrome can be freely accessed here.