Genetic evaluation of infertile men

Area of Science:

• Human Genetics
• Reproductive Medicine
• Molecular Biology

Background:

• Male infertility, including azoospermia and severe oligozoospermia, is often linked to genetic defects.
• Microdeletions in the Y chromosome's azoospermic factor (AZF) region and chromosomal anomalies are significant causes.
• Identifying these genetic defects is vital for effective diagnosis and treatment planning.

Purpose of the Study:

• To evaluate the frequency and significance of molecular and cytogenetic defects in infertile men.
• To assess Y chromosome microdeletions in azoospermic and oligozoospermic individuals.
• To correlate genetic findings with andrological parameters and inform assisted reproductive technology (ART) protocols.

Main Methods:

• Genotyping of 105 azoospermic, 28 oligozoospermic, and 32 fertile men using 20 sequence-tagged sites (STSs) for Y microdeletions.
• Analysis of Y microdeletions on lymphocyte and testicular DNA in azoospermic patients.
• Karyotype analysis performed on 72 infertile patients to detect chromosomal aberrations.

Main Results:

• Y microdeletions were detected in 6.7% of azoospermic and 3.6% of oligozoospermic men; none found in fertile controls.
• Genetic testing on lymphocyte and testicular DNA yielded identical microdeletion results.
• Chromosomal aberrations were found in 16.6% of infertile patients, notably gonosome anomalies.

Conclusions:

• Y chromosome microdeletions are a significant genetic cause of male infertility.
• Genetic screening for microdeletions and chromosomal anomalies is recommended for infertile men prior to ART.
• Standard andrological parameters do not reliably predict the presence of Y microdeletions.