First live birth after fertility preservation using vitrification of oocytes in a woman with mosaic Turner syndrome

Abstract

Purpose To report the case of a young woman diagnosed with Turner syndrome (TS) who achieved a live birth using her own oocytes that had been vitrified for fertility preservation. Methods A 25-year-old woman with mosaic (45,X/46,XX) TS was referred for fertility preservation (FP) counseling. Serum anti-Müllerian hormone (AMH) level was normal (6.4 µg/L). In view of the unpredictable rate of follicle loss in TS individuals, she requested FP and underwent two cycles of ovarian stimulation (OS) for oocyte cryopreservation (OoC) using a GnRH antagonist protocol and recombinant follicle stimulating hormone (rFSH), 200-250 IU daily for 8 resp. 12 days. Results In total, 29 metaphase II oocytes (MII) were vitrified after OS. After conceiving spontaneously and achieving a live birth, she returned to the clinic five years after OoC with a desire for pregnancy using in vitro fertilization (IVF) of her cryopreserved oocytes and preimplantation genetic testing (PGT-A). All 29 MII oocytes were thawed; 23 oocytes survived (79.3%) and were inseminated with partner sperm using intracytoplasmic sperm injection (ICSI). Thirteen oocytes were fertilized resulting in three good quality blastocysts which were vitrified after trophectoderm biopsy for PGT-A using array-CGH. Two blastocysts were found to be euploid. One was thawed and transferred to the uterus using a HRT priming protocol. An uneventful pregnancy occurred. The patient delivered a healthy baby girl weighing 3490 g at 40 weeks of gestation. Conclusions We report the first live birth achieved using cryopreserved oocytes in a woman diagnosed with mosaic TS. Cryopreservation of oocytes after ovarian stimulation is a realistic option for FP in selected post menarche individuals with mosaic TS. Whether PGT-A may reduce the risk of pregnancy loss in TS has to be confirmed by further studies.

Ovarian tissue cryopreservation for a 3-year-old girl with Mosaic Turner syndrome in China: First case report and literature review

“…Only very recently (2022), cryopreservation of oocytes after ovarian stimulation and the successful delivery of a healthy female baby by PGT-A in a mosaic TS patient after menarche was reported in Belgium ( 5 ). Oocyte vitrification after controlled ovarian stimulation (COS) does not reduce the lifespan of natural ovaries, but this technique can only be provided to natural post-pubertal girls ( 19 ).…”

“…Peripheral blood karyotype analysis is the gold standard for diagnosing TS, which usually requires 30 standard cells. Buccal cell fluorescence in situ hybridization (FISH) analysis is an effective tool for analyzing and evaluating chromosome composition ( 5 , 6 ). TS patients may have a variety of complications in each life stage involving multiple organs, and they require multi-disciplinary diagnosis and treatment, not only to maintain average growth and development but also to induce puberty and maintain female secondary sexual characteristics, to reach peak bone mass and to provide fertility preservation (FP).…”

Questions concerning fertility preservation during transition in girls with Turner syndrome: review of the literature

“…While the first pregnancy from OC was recorded as far back as in 1986 (54), only very recently we have seen the first TS pregnancy (55). Cryopreservation of 29 oocytes was performed in a mosaic (45,X/46,XX) 25-year-old patient.…”

“…In 2015 Demestre et. al described a case of pregnancy in a 27-year-old woman, after transplanting cryopreserved ovarian tissue, which was removed at the age of 13, before menarche (55). It was the first reported pregnancy from OTC performed before puberty, which is promising for TS patients from whom ovarian tissue has been harvested at a young age.…”

Turner syndrome: fertility counselling in childhood and through the reproductive lifespan

“…Autologous oocytes from patients with Turner syndrome may harbour the same chromosomal anomalies; OC has the advantage of allowing for preimplantation genetic testing (PGT) of embryos in the future. Techniques for oocyte cryopreservation in Turner syndrome have been described [36–38,39 ▪ ], and the first live birth in a Turner syndrome patient after oocyte thaw, fertilization and PGT testing was reported in 2022 [40 ▪▪ ]. OTC is the only option for the preservation of oocytes in prepubertal patients because ovarian stimulation is not possible.…”