What are the fertility considerations for Turner Syndrome (TS)?

From the Guidelines

Women with Turner syndrome should be considered for fertility preservation options, such as oocyte or embryo cryopreservation, as early as possible, ideally during adolescence, due to the high risk of premature ovarian failure. The majority of patients with Turner syndrome will experience infertility, with over 90% facing premature ovarian failure 1. However, some women with mosaic Turner syndrome may have functioning ovaries for a limited time, making early discussion of fertility preservation crucial.

Fertility Considerations

• Fertility preservation options, including oocyte or embryo cryopreservation, should be discussed early to maximize the chances of successful pregnancy 1.
• For those pursuing pregnancy, thorough cardiovascular evaluation is essential before conception, as women with Turner syndrome have increased risks of aortic dissection and hypertensive disorders during pregnancy.
• Hormone replacement therapy (typically estradiol 1-2mg daily with cyclic progesterone) is necessary until pregnancy for those with ovarian failure to maintain bone health and secondary sexual characteristics.
• Pregnancy management requires a multidisciplinary approach involving maternal-fetal medicine specialists, cardiologists, and endocrinologists.

Hormone Replacement Therapy

• Transdermal 17βE is recommended as the first choice for pubertal induction in girls with Turner syndrome, due to its better results in terms of uterine parameters compared to oral EE 1.
• Oral 17βE should only be administered if there is a contraindication for the transdermal route, such as poor compliance or chronic skin GvHD.

Pregnancy Management

• Women with Turner syndrome who achieve pregnancy should be monitored closely for cardiovascular complications, gestational diabetes, and thyroid dysfunction, which occur at higher rates in this population.
• A multidisciplinary approach to pregnancy management is essential to minimize the risks associated with pregnancy in women with Turner syndrome.

From the Research

Fertility Considerations for Turner Syndrome (TS)

• Turner syndrome (TS) is a chromosomal abnormality that occurs in one in 2500 live female births and is associated with ovarian failure, leading to infertility in most cases 2, 3.
• Women with TS who wish to become pregnant are at high risk of cardiovascular complications, including aortic dissection, severe hypertension, and ventricular insufficiency, and should undergo a full preconception evaluation and counseling 2, 4.
• Pregnancies in women with TS, whether spontaneous or achieved through in vitro fertilization (IVF) with donated oocytes, are considered high-risk and require close monitoring throughout the pregnancy and postpartum period 2, 4.
• Women with TS should be counseled about the risks of fetal loss, chromosomal abnormalities, and congenital heart defects, and should be offered prenatal diagnosis testing 4.
• Fertility preservation options for women with TS include cryopreservation of mature oocytes and embryos, as well as ovarian tissue cryopreservation, which is a promising but still investigational technique 3, 5.
• Early counseling and active management of fertility preservation are critical to ensure positive and well-tolerated reproductive outcomes for women with TS 6.
• Women with TS who have already lost their ovarian reserve may consider oocyte or embryo donation, adoption, or gestational surrogacy as alternatives to achieve parenthood 5.

Preconception Evaluation and Counseling

• A full preconception evaluation should include cardiac assessment with Holter blood pressure monitoring, echocardiography, and thoracic MRI to verify aortic root, cardiac valves, and left ventricular function 2, 4.
• Women with TS should be counseled about the risks of pregnancy and the importance of close monitoring throughout the pregnancy and postpartum period 2, 4.
• Single embryo transfer should be considered to minimize the risks of multiple pregnancy and associated complications 2, 4.

Pregnancy Management

• Pregnancies in women with TS require close monitoring throughout the pregnancy and postpartum period, with enhanced cardiovascular surveillance, especially during the third trimester and peripartum period 2, 4.
• Women with TS may require caesarean section for delivery due to cephalopelvic disproportion and/or aortic root dilatation risk 4.