A Combined Approach: Karyotyping and QF-PCR for Comprehensive Genetic Screening in Male Infertility

Area of Science:

• Reproductive Medicine
• Human Genetics
• Clinical Diagnostics

Background:

• Male infertility affects a significant portion of the reproductive-aged population.
• Genetic factors, including chromosomal aberrations and Y-chromosome microdeletions, are major contributors to severe spermatogenic failure.
• Understanding the genetic landscape of male infertility is crucial for accurate diagnosis and management.

Purpose of the Study:

• To determine the prevalence and spectrum of chromosomal abnormalities and Y-chromosome microdeletions in infertile males from Eastern Uttar Pradesh.
• To evaluate the diagnostic utility of conventional karyotyping and quantitative fluorescence polymerase chain reaction (QF-PCR).
• To assess the impact of extended STS marker analysis in identifying Y-chromosome microdeletions.

Main Methods:

• Cross-sectional study involving 134 infertile males.
• Semen analysis conducted per WHO 6th edition guidelines.
• Conventional karyotyping and QF-PCR for Y-chromosome microdeletion analysis (AZF v2 kit and extended STS markers).

Main Results:

• Chromosomal abnormalities detected in 23.1% of cases; mosaic karyotypes in 18%.
• Mosaic Klinefelter syndrome (46,XY/47,XXY) was the most frequent abnormality (14.2%).
• Y-chromosome microdeletions found in 29% of men with normal karyotypes (AZFb and AZFc regions); extended STS analysis identified additional deletions in 31% of initially negative cases.

Conclusions:

• A combined cytogenetic and molecular approach is essential for comprehensive genetic evaluation of male infertility.
• Karyotyping is vital for detecting large chromosomal abnormalities.
• Extended STS-based molecular screening significantly improves diagnostic yield, especially in resource-limited settings.