A retrospective series of homologous intracytoplasmic sperm injection cycle results of 99 women with mosaic Turner syndrome

Abstract

Background: Although pregnancy is reported in both classical and mosaic forms of Turner syndrome (TS), both spontaneous and in-vitro-fertilisation (IVF) success rates were found higher in mosaic cases. In this study we analysed homologous intracytoplasmic sperm injection cycle results of infertile patients diagnosed with mosaic TS. Methods: Ninety nine female patients who had infertility complaints for 2 years or more and were diagnosed with mosaic TS were included in the study. They were treated according to a standard antagonist protocol. Embryo transfer was performed after pre-implantation genetic diagnosis (PGD) in 53 cases while embryo transfer was performed in remaining 46 cases without PGD. Results: While 45,X/46,XX karyotype was found in 55 of 99 cases, 45,X/46,XX/47,XXX karyotype was found in 32 cases. The remaining participants consisted of rare karyotype forms. The total number of patients conceived after the antagonist protocol was 31 (31.3%). While 18 of these cases resulted in term delivery (58%), the remaining 13 cases resulted in miscarriage (41.9%). Pregnancy could not be obtained in only 2 cases whose karyotype were 45,X/47,XXX and 45,X/46,XX/46,XY. Karyotype analysis was performed in only 2 of 18 newborn babies due to suspicious physical findings, but the results were reported as normal. Discussion: On the basis of our observations in this largest mosaic TS series, homologous IVF should be considered in infertile patients with Turner syndrome with high-grade mosaicism. PGD should also be recommended to TS patients on IVF treatment.

Keywords

• mosaic turner syndrome
• homologous ivf
• antagonist protocol
• pgd