Micro Deletin of genes rsponsible for sperm production with rsulatant azoospermia

Y chromosome: Deletion of one particular  segment of Y chromosome i.e., long arm of the Y chromosome (Yq11) is considered the most common genetic cause of male infertility .

 : How relevant to us?? It will be prudent to do for genetic test ( Micro deletion of a particular segment in Y chromosome ) of those  male partner who are being selected for ICSI due to a)  azoospermia  or b) NOA i.e. nonobstructive azoospermia. Lets view briefly  how prevalent is  Y chromosome Microdeletions in Infertile Men with Non-obstructive Azoospermia and Severe Oligozoospermia. Y chromosome microdeletion is a major genetic cause of primary male azoospermia. Detection of Y chromosome microdeletions is of great use for guiding clinical diagnosis, helping selecting treatment schemes, and reducing the incidence of genetic diseases. In the following Post New Year day discussions  the importance of Y chromosome microdeletion screening and genetic counseling is strongly emphasized for infertile men prior to employment of assisted reproduction techniques.

 Many research works were carried out by andrologist to investigate the frequencies and types of Y chromosome microdeletions in infertile men and to analyze the relationship between the levels of reproductive hormones and Y microdeletions. The most commonly cited  study summary is as follows:-

A total of 1,226 infertile men were screened for A)  Y chromosome microdeletions using multiplex PCR assay..Further,  B) Karyotype analysis was also  performed on peripheral blood lymphocytes with standard G-banding. C) Serum reproductive hormone levels were measured. Out of 1226 such men as many as 11% had Y microdeletions To put in other way round, as  many as 14% of NOA and 20% of Oligozoospermia men had such Y microdeletions in particular segment .The portion of Y chromosome which regulates sperm production is called AZF(Azoospermic Factor) segment / portion of Y chromosome ,It contains several genes which are again located in different loci in that segment  . The most frequent microdeletions were detected in the AZFc region, followed by AZFbc, AZFb, AZFa, AZF abc(Yq), Yp(SRY)+Yq, and partial AZF c regions. Levels of FSH and LH in patients with AZFc microdeletion were significantly lower, Out of all azoospermic men & OAT as many as 28% had sex chromosomal, abnormalities. There is a need for Y chromosome microdeletion screening prior to ICSI or any there ART (where there is Azoospermia or severe OAT)  for correct diagnosis of male infertility. Obtaining reliable genetic information for assisted reproductive techniques can prevent unnecessary treatment and vertical transmission of genetic defects to offspring. Microdeletion of the azoospermia factor (AZF) region: It is a genetic diseases  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 nonoverlapping subregions called AZFa, AZFb, and AZFc, all of which are required for normal spermatogenesis.

Y Chromosome Microdeletions in Infertile Men with Non-obstructive Azoospermia and Severe Oligozoospermia is an important issue to geneticists prior to ART in case of azoospermia as important a is with Cong Vas Obstruction (cystic fibrosis).