Fertility & Pregnancy | Turner Syndrome Global Alliance

FERTILITY

A high percentage of individuals diagnosed with Turner syndrome (TS) have ovarian insufficiency which results in little or no natural estrogen production. Medical professionals should discuss estrogen replacement and the issue of fertility soon after diagnosis to help individuals and families understand medical options and risks. A small percentage of girls with TS produce enough estrogen to ovulate on their own, and an even smaller percentage of women with TS have had spontaneous pregnancies–however, most of these women also face premature ovarian failure compared to the general population.

The loss of fertility is one of the most challenging symptoms of TS for women and families to cope with after diagnosis and for years to come. Women with TS have built families in many ways, including adoption, in vitro fertilization (IVF), surrogacy, and rarely even by spontaneous pregnancy. If you or someone you love who has TS is considering building a family through pregnancy, do your research, be informed, understand the risks, and know what conversations to have with the medical team.

FERTILITY PRESERVATION

According to the Turner Syndrome Clinical Practice Guideline, “Fertility preservation is potentially feasible in women with TS, as many girls with TS have ovarian follicles until their late teens, and some women with mosaic TS have follicles for many years thereafter, even though they tend to experience early menopause. Oocyte cryopreservation after controlled ovarian hyperstimulation is a possible fertility preservation option in young mosaic TS women with persistent ovarian function. Case reports describe cryopreservation of 8–13 mature oocytes after controlled ovarian hyperstimulation in TS women aged 14–28 years. So far, there are no pregnancies reported after oocyte freezing and thawing in TS, as these women are still young and have not attempted pregnancy yet. Vitrification of oocytes at an even younger age, perhaps about 12 years, may be feasible, but so far, there are no reliable data in TS.” For the most current and appropriate options, please consult with your pediatric or adult Turner syndrome doctors.

PREGNANCY

According to the Turner Syndrome Clinical Practice Guideline, “Spontaneous or assisted pregnancy in TS should be undertaken only after thorough cardiac evaluation. Alarming reports of fatal aortic dissection during pregnancy and the postpartum period have raised concern about the safety of pregnancy in TS (65). If pregnancy is being considered, preconception assessment must include cardiology evaluation with MRI of the aorta. A history of surgically repaired cardiovascular defect, the presence of BAV, or current evidence of aortic dilatation or systemic hypertension should probably be viewed as relative contraindications to pregnancy. For those who become pregnant, close cardiology involvement throughout pregnancy and the postpartum period is essential.”