Genetic disorders and male infertility

Area of Science:

• Reproductive Medicine
• Human Genetics
• Medical Diagnostics

Background:

• Male infertility affects 1 in 6 couples, with genetic factors implicated in 50% of cases.
• Severe spermatogenesis disorders, including non-obstructive azoospermia, are linked to genetic abnormalities in 10-20% of patients.

Purpose of the Study:

• To review and summarize the relationship between male infertility and various genetic disorders.
• To highlight the practical implications of understanding genetic causes of male infertility.

Main Methods:

• Literature review and synthesis of studies on male infertility and genetic/chromosomal abnormalities.
• Focus on advancements in understanding azoospermic factor (AZF) deletions and candidate gene identification.

Main Results:

• Key genetic disorders associated with male infertility include Klinefelter syndrome, translocations, Y chromosome abnormalities, XX male syndrome, AZF deletions, and congenital bilateral absence of vas deferens.
• Advances in genome sequencing have identified 39 candidate genes for azoospermia in the past decade.
• AZF deletion testing has improved in detecting variations and predicting spermatogenesis.

Conclusions:

• Genetic testing for chromosomal abnormalities and AZF deletions is recommended for patients with severe oligozoospermia and azoospermia.
• Pre- and post-test genetic counseling is essential for patients undergoing genetic evaluation for infertility.