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Abstract
Infertility is a genetically heterogeneous disorder with a
multifactorial etiology. The correlation between absence of AZF
microdeletions in fertile men and their presence in infertile men,
suggest a cause-and-effect relation between the microdeletions
and infertility. AZF microdeletions cannot be predicted on the basis
of clinical findings or even the results of semen analyses. So
microdeletion analysis using peR is mandatory to determine the
frequency and site of gene deletion and also contributes to the
determination of an accurate prognosis and ultimately to valuable
counseling for couples diagnosed with AZF microdeletions.
The aim of this study was to detect AZF region
microdeletions and their locations on Y chromosome in infertile
men having severe oligozoospermia or azoospermia, and to
correlate these microdeletions if present with the findings of
patient’s semen analysis, hormonal profile and testicular
histopathology.
This study was conducted upon 40 infertile Egyptian male
patients, 25 of them were azoospermic and 15 of them had severe
oligozoospermia (sperm count below 10 million/ml).