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Genetic causes of male infertility


Male infertility can be triggered by various factors, including problems with the Y chromosome.

Spermatogenesis is the process of formation and maturation of male germ cells. It is regulated by genes that are located on chromosomes. If the genes are defective, then the quality of the ejaculate deteriorates.

The fertilizing ability of sperm is greatly reduced in the presence of deletions, that is, with the loss of chromosome sections and, as a result, some genes that play a major role in the regulation of spermatogenesis.

The severity of violations may vary:

  • Oligozoospermia – reduced sperm count;
  • Azoospermia is the absence of spermatozoa in the seminal fluid.

The section of the male chromosome containing the genes responsible for spermatogenesis is called the AZF locus.

The AZF locus is located in the long arm of the Y chromosome (Yq11) and is divided into 3 sites: AZFa, AZFb and AZFc.

In each of the sites there are genes that play an important role in the process of spermatogenesis. Mutations in which a part of the chromosome in the AZF locus is lost can be capturing the entire site of the AZF locus and capturing an incomplete site.

The prognosis and tactics of treatment of male infertility depend on the localization of the mutation. In order to detect them, it is necessary to donate blood from a vein. Specialists are investigating the structure of the AZF region by PCR.

The study of "AZF locus Deletion" is recommended:

  • In violation of spermatogenesis (sperm less than 10 million / ml and the presence of immature sperm in the ejaculate).
  • In violation of spermatogenesis with preserved endocrine function of the testicles.
  • When determining the possibility of obtaining sperm for IVF.
  • With a family history of prostate cancer.
  • If there is a violation of reproductive function in the male line in the family history.

Please note that the correct appointment of the test is possible only with the advice of a doctor.

Specialists The Center for Personalized Medicine is always ready to help you. 

Phone: +7 (905) 525-50-05

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GBUZ Moscow Clinical Scientific Center named after Loginov MHD