Male Factor Infertility
Infertility is a widespread medical problem, affecting the lives of 15–20% of couples, with male factor infertility (MFI) occurring in almost half of the cases. The unfavourable genetic background is thought to be the cause in 15–30% of male factor infertility cases.
The MFI-APEX (arrayed primer extension) assay in combination with a PCR-based test for detecting Y-chromosome deletions enables simultaneous analysis of the most prevalent genetic factors causing male infertility, such as Klinefelter syndrome; AZF-microdeletions; mutations in the CFTR gene; cryptorchidism (INSL3, RXFP2), hypogonadism (GNRHR) and spermatogenic failure linked genes (DDX25, DNAH5, DNAH11, DNAI1, ESR2, FSHB, NLRP14, PRDM9, PRM1, PRM2, PRM3, RBMXL2, TEKT2, USP26, UTP14C).
Level of mosaicism less than 25% of 47,XXY/46,XY cannot be detected by the test. The degree of mosaicism differs among tissues, and if mosaicism is suspected, additional analysis of buccal cell sample is recommended for better ascertainment of mosaicism in patients with Klinefelter syndrome.
The correct determination of the genetic basis of infertility is important for the further treatment of patients. Furthermore, MFI testing is strongly recommended before a couple undergoes assisted reproduction in order to prevent the possible inheritance of the genetic lesion to the next generation.
Indications for genetic testing:
- Confirmation of suspected diagnosis
- Reasons other than genetic have been ruled out (environment and lifestyle related reasons, medical reasons that include hormone imbalance, infections, varicocele)
- Patient’s phenotype is indicative of a syndrome or condition associated with genetic male infertility (for example, small testicles and lower testosterone levels in case of Klinefelter syndrome)