Fertility in Turner Syndrome

Jacqueline K. Hewitt; Yasmin Jayasinghe; David J. Amor; Lynn H. Gillam; Garry L. Warne; Sonia Grover; Margaret R. Zacharin


Clin Endocrinol. 2013;79(5):606-614. 

In This Article

Abstract and Introduction


There is increasing interest in fertility and use of assisted reproductive technologies for women with Turner syndrome (TS). Current parenting options include adoption, surrogacy, and spontaneous and assisted reproduction. For women with TS, specific risks of pregnancy include higher than usual rates of spontaneous abortion, foetal anomaly, maternal morbidity and mortality. Heterologous fertility assistance using oocytes from related or unrelated donors is an established technique for women with TS. Homologous fertility preservation includes cryopreservation of the patient's own gametes prior to the progressive ovarian atresia known to occur: preserving either mature oocytes or ovarian tissue containing primordial follicles. Mature oocyte cryopreservation requires ovarian stimulation and can be performed only in postpubertal individuals, when few women with TS have viable oocytes. Ovarian tissue cryopreservation, however, can be performed in younger girls prior to ovarian atresia – over 30 pregnancies have resulted using this technique, however, none in women with TS. We recommend consideration of homologous fertility preservation techniques in children only within specialized centres, with informed consent using protocols approved by a research or clinical ethics board. It is essential that further research is performed to improve maternal and foetal outcomes for women with TS.


Advances in reproductive medicine increasingly offer the possibility of childbearing to women who have declining ovarian function. These new techniques are being considered for young women who have Turner syndrome (TS), in whom accelerated oocyte atresia usually leads to ovarian failure before childbearing age. While patients' expectations rise with technical advances, there are associated issues regarding safety and ethical use in a younger TS population. In adult women with TS, pregnancy is associated with increased risk of maternal mortality, foetal loss, foetal congenital abnormality and abnormal karyotype.[1–3] Success rates are low for many invasive reproductive techniques, and newer technologies such as ovarian cryopreservation are presently considered experimental.

Specialists involved in the care of individuals with TS face a range of important considerations. Adult reproductive endocrinologists involved in fertility assistance have relatively recently begun to appreciate the mortality risk to the TS mother that pregnancy may entail.[2,4] Assisted reproduction techniques possible in children prior to the decline of ovarian reserve, such as ovarian tissue cryopreservation, require paediatric surgery. Ethical challenges relating to consent and beneficence thus arise for the paediatric endocrinologist and gynaecologist. During any pregnancy that eventuates, obstetricians and cardiologists must be prepared for life-threatening complications.

These concerns must be balanced against the fact that TS women report infertility to be one of the greatest challenges they face.[5] Young women and their parents are often intensely interested in future fertility options. While women with TS enjoy a good quality of life, infertility is significantly associated with poor self-esteem and psychosocial adjustment, and demands discussion with empathy and sensitivity.[6] A review of 276 women with TS in the US found that 9·1% chose to adopt children and 3·2% had spontaneous or assisted pregnancies; however, 87·7% of this cohort had no children.[7]

This clinical practice update will discuss fertility in TS, pregnancy risks, the reproductive technologies in current use, and associated ethical issues. It will not cover parenting choices such as adoption and surrogacy, but recommends that these need to be considered in view of the pregnancy risks and fertility outcomes in TS (Table 1).