Relevance
of normal loci in Yq11 position( q means
long arm of chromosome) & normal Spermatogenesis ?? Spermatogenesis is governed by long arm of the Y chromosome AS such if there is changes in Y chromosome i.e. in the
form of Yq11Microdeletion of the
azoospermia factor (AZF) region located on the long arm of the Y chromosome (Yq11) is
considered the most common genetic cause of male infertility . However, Y
microdeletions can be transmitted from infertile fathers to their male
offspring, who could also experience infertility, through the procedure of
ICSI. Thus, it is important to evaluate Y microdeletions in male infertility
before assisted reproduction in order to provide appropriate information to
patients.The AZF region is divided into three nonoverlapping subregions called
AZFa, AZFb, and AZFc, all of which are required for normal spermatogenesis.
Microdeletions in these three regions are associated with various
spermatogenetic alterations including Sertoli cell-only syndrome (SCOS), maturation
arrest, and hypospermatogenesis. Specifically, microdeletion of AZFa is
relevant to complete SCOS and azoospermia. The absence of AZFb is associated
with maturation arrest at meiosis, whereas microdeletion of AZFc results in
variable clinical and histologic phenotypes, ranging from oligozoospermia to
SCOS . Extensive studies have been carried on Y microdeletions in
non-obstructive azoospermic and severely oligozoospermic patients, with a
reported incidence ranging from 3% to 28%. Therefore, disruption of AZF can be viewed as the most
common molecularly diagnosable cause of spermatogenic failure in the setting of
non-obstructive azoospermia or severe oligozoospermia .
Recently,
the techniques of testicular sperm extraction (TESE) and intracytoplasmic
sperm injection (ICSI) have made it possible to help men with
azoospermia or severe oligozoospermia to achieve successful fertilizations and
pregnancies . However, Y microdeletions can be transmitted from infertile
fathers to their male offspring, who could also experience infertility, through
the procedure of ICSI. Thus, it is important to evaluate Y microdeletions in
male infertility before assisted reproduction in order to provide appropriate
information to patients.
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