Microdeletions of Y chromosomes: Nonobstructive azoospermia: .
Microdeletions 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 . The AZF region is divided into three no
overlapping sub regions called Alfa, Aft, and Aft, all of which are required
for normal .Assessing the impact of Y-chromosome microdeletions on male
Infertility seems more relevant as more elder men are becoming father and there
is environmental pollutant and workplace toxicity . Major Focus in since the
decades of eighties have focused on two main aspects , These research was
intensified in nineties even ICSI was
invented . Such two causes of which was never thought of are on male
infertility was A) How is genes located in autosomes & Y chrome may go mad
and behave erratic way is aPTT sperm production
gap into deep sleep if not coma. Genetic causes elucidating the genetic
and chromosomal abnormalities in non obstructive azoospermia and severe
oligoasthenozoospermia. The possibility of microdeletions of
Y-chromosome arises if there is environmental pollutants . B)The second
invention since late eighties was on role of ROS :- in the caution of OTA/Azoo
were deaf kinds of ROS in tetes, Epic,
Prostate or even in F genial tract. ROS The
possibility of OS
Microdeletions are
uncommon and seen yearly 2-3 cases by a practicing gynaecologist. As such we
listen about variety of deletion
disorders in sate conferences /conferences
and by 5 days we forget (at least 100% true for me- an honest confession
at this age) On realization for
memorizing this uncommon syndrome few
points are highlighted for young generation.
Point
to remember 1: Microdeletions
which locus in Y chromosome ?? Out of many locus of microdeletions in Y
chromosome àAft microdeletions
is most common:- Men with Y microdeletions, the most frequent microdeletions were
detected in the Aft region, followed by Amfac, Aft, Alfa, Amfac(I), Yap(SRY)+I,
and partial Aft regions.
Point to remember 1: How Prevalence is abnormal karyotype if there is
microdeletions ?
Karyotype analysis. In cases of Y
microdeletions as much as 30% may have had sex chromosomal abnormalities. amongst
all microdeletions
Point to remember:-3:- Aft microdeletions à Levels of FSH and LH in
patients with Aft microdeletions are
usually significantly lower, But
those in patients with Yap(SRY)+I were exhibits higher than in patients without Y
microdeletions.
Point to remember:-4:- What about level of testosterone in patients with Amfac(I)
or Yap(SRY)+I is significantly lower . However, there was no significant
difference in the levels of reproductive hormones between all patients with and
without Y microdeletions.
Point to remember:-5:- Which locus go into sleep and stops fencing( Cease work) ? Prevalence wise microdeletions (Yq11of 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 . The AZF region is divided into three no overlapping sub regions called Alfa, Aft, and Aft, all of which are required for normal spermatogenesis. Point to remember:- 6:- Who is responsible for Sertoli Cell syndrome ?? Ans:- Medical knowledge is constantly changing Microdeletions in Alfa, Aft, and Aft à three regions are associated with various spermatogenetic alterations including Sertoli cell-only syndrome (SCOS), maturation arrest, and hypo spermatogenesis. Specifically, microdeletions of AZFa is relevant to complete SCOS(sertolo cel syndrome ) and azoospermia.
Point to remember:-5:- Which locus go into sleep and stops fencing( Cease work) ? Prevalence wise microdeletions (Yq11of 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 . The AZF region is divided into three no overlapping sub regions called Alfa, Aft, and Aft, all of which are required for normal spermatogenesis. Point to remember:- 6:- Who is responsible for Sertoli Cell syndrome ?? Ans:- Medical knowledge is constantly changing Microdeletions in Alfa, Aft, and Aft à three regions are associated with various spermatogenetic alterations including Sertoli cell-only syndrome (SCOS), maturation arrest, and hypo spermatogenesis. Specifically, microdeletions of AZFa is relevant to complete SCOS(sertolo cel syndrome ) and azoospermia.
Point to remember:-7 :- 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 .
Point to remember:-8:- 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% (7, 8). 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 (9).
Point to remember:-9:- 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 (10). However, Y microdeletions can be transmitted from infertile
fathers to their male offspring, who could also experience infertility, through
the procedure of ICSI.
Microdeletions of Y chromosome :-Point 10 : Dr Pal what will be
take home meassage pertaining to deletion disorders in the chromosomes involved in
spermatogenesis excluding those genes which control synthesis of Gonadotrophin , Growth hormone, PRL , Adrenal steroid , Thyroid ,Insulin? It fair to
acknowledge that there are equally immense role of all these hormones in
spermatogenesis. These hormones play a no less important role in spermatogenesis
in comparison to sex chromosomes. ?? The main message it will be fair to
evaluate Y microdeletions in male infertility before we refer to a metro city
for ART .This tets if facility exist in your place will help all of us working
at periphery in order to provide appropriate
information to patients and possibility of TESE, PESA and other ART poecdure
realted to males. . the existing scenario of massive industrialization
and changing lifestyles, more focus should be placed on identifying populations
at risk, evaluating reproductive hazards, understanding the mechanism of
action, and devising an appropriate preventive or intervention strategies to
improve public health. Research on reproduction is complicated due to various
constraints involved in evaluating and interpreting reproductive outcomes as
the biology of reproduction itself is complex and the effect is not confined to
the target alone.
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