Pilot study for early prognosis of Azoospermia in relation to Y-STR Profiling

Abstract

Background: Azoospermia constitutes 20% of male infertility situations and affects 1% of the total male population (Jarvi et al., 2010). This condition is classified into three major types; pre-testicular, testicular and post-testicular Azoospermia (Sermondade et al., 2012). Genetic defects causing Azoospermia are due to chromosomal or non-chromosomal alterations on the Y-Chromosome (Lee et al., 2011). Initial diagnosis of Azoospermia is established when no spermatozoa are detected on microscopic examination of semen (World Health Organisation, 1999).
Objective: To evaluate the correlation of Y-STR Profiling results and the prevalence of Azoospermia, to help for early prognosis of Azoospermia before puberty.
Methods: Buccal swab samples were taken from two groups of individuals (50 fertile and 50 Azoospermic patients), then DNA was isolated using QIAamp DNA Micro kit. DNA quantification was done using a Real-time PCR utilizing Quantifiler Kit. PCR was done using PowerPlex Y PCR Amplification Kit, then amplified products were typed using a 3130 Genetic Analyzer.
Results: Five haplotypes in four different Y-STR loci were found to possess significantly higher occurrence percentages in Azoospermic than in fertile Saudi individuals, which can serve as a group of pre-diagnostic markers for early prognosis of Azoospermia in Saudi population.
Conclusion: There was a significant correlation of Y-STR Profiling results and the prevalence of Azoospermia condition, which supports the idea of using Y-STR Profiling in early prognosis of Azoospermia.