Male Factor Infertility (MFI) genetic testing

Infertility is a medical problem, which affects 10-15% of couples. Male factor infertility is diagnosed in almost half of the cases. The male genetic pathology is thought to be the basis for MFI in 15-30% of cases.


Main genetic reasons of MFI are numerical and structural aberrations of sex chromosomes: 47,XXY karyotype in Klinefelter syndrome and AZF region microdeletions of Y-chromosome (mostly in AZFa-c regions).The sperm analysis results of these patients vary from complete absence of sperm cells in the ejaculate to very severe oligozoospermia


The carriers of mutations in the cystic fibrosis transmembrane regulator (CFTR) gene often experience obstructive azoospermia, because of the absence or obstruction of vas deference. All these genetic lesions along with the gene mutations responsible for spermatogenesis failure, cryptorchidism and hypogonadotropic hypogonadism can be simultaneously determined in a single MFI testing.


Indications for genetic testing for male infertility:

– Confirmation of the suspected diagnosis for MFI.
– Both obstructive and non-obstructive azoospermia and severe oligozoospermia (sperm count of <5 x 106 sperms per mL) if other reasons for MFI have been ruled out.
– Patient’s phenotype is indicative for a syndrome or condition associated with severe male infertility (for example Klinefelter syndrome).


The genetic tests for male factor infertility can analyse the most prevalent genetic causes for male infertility, such as:

– Klinefelter syndrome, caused by karyotype
– Azoospermia Factor (AZF) microdeletions, including AZFa, AZFb and AZFc regions
– Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which are related to obstructive azoospermia
– Gene mutations and variations responsible for spermatogenic failure (DDX25, DNAH5, DNAH11, DNAI1, ESR2, FSHB, NLPR14, PRDM9, PRM1, PMR2, PRM3, RBMXL2, TEKT2, USP26, UTP14c), cryptorchidism (INSL3 and RXFP2) and hypogonadotropic hypogonadism (GNRHR)


A clear advantage of performing the MFI genetic assay is the simultaneous testing for a number of known genetic causes of male infertility, including both chromosomal and gene mutations. This test allows confirmation and/or exclusion of the diagnosis and provides insight into the causes of infertility, which are valuable for planning the infertility treatment. We strongly recommend MFI genetic testing before a couple undergoes assisted reproduction (with IVF/ICSI or any other form of in vitro fertilization) in order to prevent the possible inheritance of the genetic lesion to the next generation, as the transmission of the genetic mutation could lead to the recurrence of the infertility problem in sons of infertile men.


The test can be ordered as a complex MFI test including all related conditions or alternatively as separate tests for detecting Klinefelter syndrome and Y-chromosome AZF microdeletions are also available.

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