Microdeletions of the azoospermia factor (AZF) region located on the long arm of the Y chromosome (Yq11)

Microdeletions of Y chromosomes: Nonobstructive azoospermia:. Genetic causes elucidating the genetic and chromosomal abnormalities in non obstructive azoospermia and severe oligoasthenozoospermia.

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 sperm production. .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 chromosome may go mad and behave erratic way in sperm production. 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 is an uncommon cause of male subfertility and seen as yearly 2-3 cases by a practicing gynaecologist.

  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.

Microdeletion in Y chromosome à    : Point  to remember 2 : 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(Sertoli cell 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% 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

Microdeletion in Y chromosome à    : Point  to remember 9: 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:-10 :- 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:-11 :- 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:-12:- 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:- 13 :- 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:-14  :- 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:-15 :- 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 Microdeletion:

Point  to remember:- 16: - 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.

Microdeletions of Y chromosome :-Point 17 : 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.