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Y chromosome microdeletions frequency in idiopathic azoospermia, oligoasthenozoospermia, and oligospermia
Gholami, Delnya; Jafari-Ghahfarokhi, Hamideh; Nemati-Dehkordi, Maryam & Teimori, Hossien
Abstract
Background: Genetic factors are candidates for about 30% of male infertility with
sperm production-related abnormalities. Y chromosome microdeletions are
responsible for around 10% of male infertility. These microdeletions generally occur
in azoospermia factor on the Yq. That is often associated with the quantitative
reduction of sperm.
Objective: The aim of this cross-sectional study was to determine the frequency of
Yq microdeletions among idiopathic azoospermic, oligoasthenozoospermic, and
oligospermic men in Shohada infertility center, Chaharmahal va Bakhtiari province.
Materials and Methods: A total of 81 idiopathic azoospermic,
oligoasthenozoospermic, and oligospermic infertile men were selected as cases and
81 fertile men assigned to control group. For molecular investigations, 13 sequence-tagged
site markers were chosen from azoospermia factor (AZF) region for
detection of Y chromosome microdeletions and amplified by two separate
multiplex-polymerase chain reaction. The relationship between the AZF
microdeletions and incidence of male infertility in the family, consanguineous
parents, smoking, and the levels of reproductive hormones among infertile men were
investigated.
Results: The total frequency of the microdeletions was 6.17% (2 cases in
azoospermic, 3 cases in oligoasthenozoospermic subgroups, and none in the
oligospermic participants and the control group). Most deletions (3.7%) were seen in
the AZFb followed by the AZFc (2.46%) and none in AZFa. No significant
association was seen between the microdeletions and clinical characteristics.
Conclusion: Although the frequency of Yq chromosome microdeletions in
Chaharmahal va Bakhtiari province is lower than the mean frequency of Iran, the
frequency is comparable to those reported by some studies in Iran.
Keywords
Male infertility; Y-chromosome microdeletions; Azoospermia factors.
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