Abstract
Objectives: To determine Y-chromosome microdeletion of azoospermia factor (AZF) loci and the concomitant
testicular pathology in azoospermic and severely oligozoospermic infertile men.
Patients and methods: DNA from blood and semen of 50 azoospermic and severely oligozoospermic infertile
men (study group) and 54 healthy fertile men (control group) was investigated for microdeletion in AZF
loci, using several Sequence-Tagged Site (STS) markers for AZF. Additionally, testicular biopsies from
infertile men were examined to evaluate testicular morphological changes.
Results: 22% (11/50) of the patients of the study group had at least one microdeletion in one or more loci
of the AZF sub-regions. Sixteen microdeletions were found in the DNA extracted from blood, while 19
microdeletions were found in the DNA extracted from semen. Microdeletions were detected in the 3 AZFb
loci in one case, in both AZFb and AZFc loci in another and in two AZFc loci in a third case; 8 cases had
sporadic microdeletions in a single locus. Moreover, the incidence of both AZFb and AZFc microdeletions
was 14% (DNA from blood) and 16% (DNA from semen), whereas AZFa microdeletions were found in
only 2% (DNA from blood) and 4% (DNA from semen) of the patients. The testicular biopsies revealed
variable histological changes ranging from hyalinized seminiferous tubules to arrested spermatogenesis.
No microdeletion was detected in the control subjects.