Abstract
The patient was diagnosed with nonmosaic 47, XXY Klinefelter Syndrome with the AZF deletion absent and SRY+. The nonmosaic 47, XXY karyotype was confirmed on a skin biopsy chromosomal analysis. Using only ejaculate motile sperms, 11 oocytes underwent ICSI and were placed rapidly in a time lapse (Embryoscope ©) with a specific culture dish. Biopsies were performed on six embryos on the 3rd day, and numerical chromosomal abnormalities were observed using the FISH test before transfer. PGS results were normal in only two embryos with normal morphokinetics in the Embryoscope. For clinical confirmation of pregnancy, ultrasonographic examination was performed during the 7th week of pregnancy, and two gestational sacs and fetal heart beat were observed.
Highlights
Eighty percent of KS cases have 47, XXY karyotypes, termed the classical form, while 20% have the 46, XY/47, XXY mosaic form, a high degree of aneuploidy, and X chromosome structural abnormalities [1, 2]
preimplantation genetic diagnosis (PGS) results were normal in only two embryos with normal morphokinetics in the Embryoscope (Figure 1) and were transferred on the 5th day of oocyte retrieval
PGS is recommended in IVF-intracytoplasmic sperm injection (ICSI) on patients with KS using testicular or ejaculate sperms due to the higher rate of aneuploid chromosome abnormalities caused by gametes
Summary
Eighty percent of KS cases have 47, XXY karyotypes, termed the classical form, while 20% have the 46, XY/47, XXY mosaic form, a high degree of aneuploidy, and X chromosome structural abnormalities [1, 2]. In various studies, increased chromosomal anomaly rates in embryos obtained from males with KS have been reported with aneuploidy screening (PGS). Procedures following early development have been initiated to increase the chance of pregnancy in IVF-ICSI cycles using a time lapse imaging incubator system (time lapse = Embryoscope) [5, 6]. This system can be used to determine whether irregularly or rapidly dividing embryos with impaired morphokinetics can occur. It was suggested that time lapse is used as an alternative to PGS in young patients and those at a low risk of aneuploidy, since it can be used to track early embryo morphokinetics [5, 6]. Preimplantation genetic diagnosis (PGS) was performed on embryos prior to transfer, and PGS and time lapse techniques were compared for the detection of chromosome number abnormalities
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