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

Assisted Reproduction

Assisted reproduction techniques have offered women with TS the opportunity for childbearing, with varying rates of complications and success [Table 3, and reviewed in Ref.[43]]. In a Swedish cohort of 482 women with TS, 12% achieved pregnancy, of which 40% were spontaneous, 60% with assisted reproduction and of these 53% used oocyte donation.[17] In 276 women in the US, 1·4% achieved pregnancy with assisted reproduction, all with oocyte donation.[7]

Heterologous in Vitro Fertilization (Oocyte Donation)

Oocyte donation from either related or nonrelated women was until recently the only reproductive option for women with TS who experience ovarian failure, with this technique showing some success. While initial pregnancy rates (determined by human chorionic gonadotropin level) may be comparable with the rest of the population utilizing in vitro fertilization (IVF) technologies, successful clinical pregnancy rates (visualization of a gestation sac) are lower than for women who undergo oocyte donation for other reasons: 17–40% vs 73%.[27,29–31,44,45] A review of 23 women with TS following ovum donation in Belgium reported a miscarriage rate of 44% and take home baby rate of 18% per transfer.[30] In a Swedish cohort of 30 women following oocyte donation, 26% of clinical pregnancies ended in miscarriage, much lower than the miscarriage rate of 45% using the patient's own gametes.[17] Donated oocytes can also be cryopreserved for future use using the methods which will be described for homologous IVF.

Heterologous ovarian tissue transplantation is a method which has not yet been reported in women with TS; however, it has shown success in providing fertility to approximately 30 women worldwide.[43]

Homologous in Vitro Fertilization (Patient's Own Gametes)

Patients with TS are often counselled against homologous IVF due to poor success rates and risk of chromosomal aberrations in the offspring.[3] Most adult women with TS already have established ovarian failure with a high serum follicle stimulating hormone (FSH) level at the time they wish to start a family, although this does not indicate absolute absence of viable follicles.[46]

Types of homologous IVF include oocyte collection for immediate IVF and embryo transfer, or various methods of fertility preservation (cryopreservation of individual mature oocytes, cryopreservation of ovarian tissue containing immature primordial follicles, or cryopreservation of embryos) for possible future use in an individual with actual or expected decline in ovarian function. While immediate IVF and embryo transfer has been used successfully in TS, harvesting of oocytes or ovarian tissue for storage in girls and women with TS remains experimental, despite an increasing body of literature.[17,47]