From the Guidelines
Turner syndrome significantly impacts fertility due to premature ovarian failure, and individuals with this condition should be counseled on fertility preservation options, such as egg freezing, and family-building alternatives, including in vitro fertilization (IVF) using donor eggs and adoption, as early as possible, ideally before puberty or in early adolescence. Most individuals with Turner syndrome experience primary amenorrhea and infertility, with only about 2-5% achieving spontaneous pregnancy 1. For those seeking to have children, fertility preservation should be discussed early, when some ovarian function may still be present. Options include egg freezing for adolescents with functioning ovaries, though success rates are lower than in the general population.
Fertility Considerations
- Pregnancy in women with Turner syndrome carries increased risks, particularly for cardiovascular complications, as many have underlying heart conditions, such as aortic dilation, which may lead to aortic dissection, especially if there is a preexisting abnormality of the aortic valve or aorta 1.
- A thorough cardiac evaluation is essential before attempting pregnancy, and some women may be advised against pregnancy if they have certain cardiac abnormalities.
- Hormone replacement therapy (HRT) with estrogen is recommended for those with ovarian failure to support development of secondary sexual characteristics and bone health, but does not restore fertility.
Hormone Replacement Therapy
- The choice of HRT formulation and route of administration should be tailored to the individual patient's needs, taking into account factors such as age, secondary sexual features, uterine volume, and metabolic risk factors 1.
- 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.
Family-Building Options
- IVF using donor eggs is a viable option for adults with Turner syndrome who wish to become pregnant, with good success rates.
- Adoption and gestational surrogacy are additional family-building options that should be discussed with patients.
- Psychological support is important throughout this process as fertility challenges can cause significant emotional distress.
From the Research
Fertility Considerations for Turner Syndrome
- Fertility preservation is a major concern for individuals with Turner syndrome, as they often experience primary ovarian insufficiency and infertility 2, 3, 4.
- The decision to pursue fertility preservation should be based on the individual's ovarian reserve, genotype, and expected future health status, including cardiac health 5.
- Options for fertility preservation in Turner syndrome include:
- Cryopreservation of mature oocytes and embryos 3, 4.
- Cryopreservation of ovarian tissue, which is a promising technique but still considered investigational 3, 4.
- Oocyte or embryo donation and adoption for those who have already lost their ovarian reserve 3, 4.
- Gestational surrogacy for those with Turner syndrome-related cardiac contraindications to pregnancy 3.
- Counselling regarding fertility concerns should begin at a young age and involve discussion of options, including ovarian tissue cryopreservation, oocyte preservation, and use of non-autologous oocytes 6.
- Clinical guidance on fertility management and pregnancy risk assessment based on karyotype, associated comorbidities, and fertility is still not fully data-driven, and realistic expectations regarding reproductive options and associated outcomes are crucial to the ethical and safe care of these patients 6.
- Fertility care in women with Turner syndrome is evolving as current management techniques improve and new approaches are validated, and early counselling and active management of fertility preservation is critical to ensure positive and well-tolerated reproductive outcomes 6.