Genetic evaluation of severe male factor infertility in Turkey: a cross-sectional study

Area of Science:

• Human Genetics
• Reproductive Medicine
• Infertility Research

Background:

• Male infertility affects a significant portion of couples seeking reproductive assistance.
• Severe oligozoospermia and nonobstructive azoospermia are key indicators of potential underlying genetic causes.
• Understanding genetic factors is vital for accurate diagnosis and effective treatment strategies.

Purpose of the Study:

• To investigate the prevalence and types of chromosomal abnormalities and Y chromosome microdeletions in infertile males.
• To explore the correlation between patient clinical characteristics and identified genetic abnormalities.
• To establish the necessity of genetic screening in specific male infertility populations.

Main Methods:

• A cohort of 322 infertile men, including those with severe oligozoospermia and nonobstructive azoospermia, was analyzed.
• Genetic analysis included karyotyping and Polymerase Chain Reaction (PCR) screening for Y chromosome microdeletions.
• Hormonal assays and semen analyses were performed concurrently.

Main Results:

• A genetic abnormality was identified in 14% (48/332) of infertile men.
• Karyotype abnormalities, including Klinefelter's syndrome (7.2%), were detected in 24 cases.
• Y chromosome microdeletions, primarily in the azoospermia factor (AZF) regions, were found in 6% of patients.

Conclusions:

• Genetic screening, encompassing karyotype analysis and Y chromosome microdeletion testing, is recommended for all men with nonobstructive azoospermia or severe oligozoospermia.
• Early identification of genetic abnormalities can guide reproductive management and counseling.
• This study highlights the significant contribution of genetic factors to severe male infertility.