Live birth after oocyte cryopreservation and preimplantation genetic testing in a woman with mosaic Turner syndrome: A case report

Turner syndrome (TS) is associated with progressive ovarian insufficiency, and fertility preservation (FP) remains difficult even in women with mosaic karyotypes. We report a live birth achieved after oocyte cryopreservation with 3.5 years of storage and preimplantation genetic testing for aneuploidy (PGT-A) in a woman with mosaic TS (45,X[4%]/46,XX[96%]). At 34 years of age, she underwent controlled ovarian stimulation for FP, which yielded nine mature oocytes that were vitrified. After 3.5 years of storage, all oocytes survived warming and were fertilized using intracytoplasmic sperm injection. Four blastocysts developed and underwent PGT-A, which identified two euploid embryos, one aneuploid embryo, and one mosaic embryo. Transfer of a single euploid blastocyst resulted in an uncomplicated term pregnancy and the delivery of a healthy male infant. To our knowledge, this is the first reported live birth in Korea achieved using cryopreserved oocytes in a woman with mosaic TS.