Management of infertile women with mosaic Turner syndrome by using homologous oocyte

Introduction
The aim of the study was to investigate the effect of the use of homologous intracytoplasmic sperm injection on clinical pregnancy and live birth rates in infertile patients with mosaic Turner syndrome (TS).

Material and methods
Twelve infertile cases who had unsuccessful in vitro fertilization (IVF)/intracytoplasmic sperm injection (ICSI) trials and were diagnosed with mosaic TS were included in the study. Twelve cases with unexplained infertility were selected as the control group. The diagnosis of TS was made according to the TS guideline. Karyotype identification was made by fluorescence in situ hybridization method (FISH) analysis of peripheral blood samples. The patients whose first cell line consisted of 45,XO and second cell line consisted of any karyotype were accepted as mosaic TS. TS cases with gonadal dysgenesis or classical TS were not included in the study. Homologous intracytoplasmic sperm injection was performed in both groups of patients. While embryo transfer was performed after pre-implantation genetic diagnosis (PGD) in 5 patients, embryos were transferred without PGD in 7 patients. Clinical pregnancy and live birth rates of the patients in both groups were compared.

Results
Age and body mass index values of both groups were found to be similar. The number of unsuccessful IVF attempts and duration of infertility were similar in both groups. However, the total dose of recombinant follicle stimulating hormone (rFSH) was higher and the duration of rFSH use was longer in TS patients. The total number of oocytes collected and metaphase II stage (MII) oocytes were significantly lower in the TS group. The 45,X/46,XX karyotypes detected in 6 of 12 cases were recorded as the most frequent mosaic TS pattern. The mosaic form we detected as the second most frequent was 45,X/46,XX/47,XXX karyotype seen in 3 cases. Approximately half of the cases had 45,X/46,XX karyotype, while one fourth had 45,X/46,XX/47,XXX. The remaining 3 cases were the rarer mosaic TS forms. There was no significant difference between the mosaic TS group and the control group in terms of clinical pregnancy rates (58.3% vs. 50%, p < 0.55). Live birth rates were found to be significantly higher in the control group compared to the TS group (57.1% vs. 83.3%, p < 0.001). Abortion rates were 42.8% in the TS group and 16.6% in the control group. The abortion rate in the TS group was approximately 2.6 times higher than in the control group (p < 0.02). One of the three miscarriages was from the PGD group (33.3%), and the remaining two were from the non-PGD group (66.6%).

Conclusions
Before an infertile patient with mosaic TS is referred for donation, IVF/embryo transfer (ET) should be planned with her own eggs and by applying PGD.