Yq11 deletion disorders AZF factor

Q.1: What is one of  the chief cause of Non obstructive cause of Azoospermia ?? What happens when there is Disruption of AZF loci placed at  Yq11 region:---à Sertoli cell-only syndrome (SCOS), maturation arrest, and hypospermatogenesis—in all such conditions

Microdeletion may be cause .

Q. 2: Deletion at which region of Y chromosome?? Microdeletion 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 à azoospermia . Y chromosome microdeletion screening and genetic are important in all cases of azoospermia .

. Q.3: What are the different regions of AZF region in Yq 11 ?? The AZF region is divided into three nonoverlapping subregions called AZFa, AZFb, and AZFc, all of which are required for normal spermatogenesis. The Microdeletions in these three regions are associated with various spermatogenetic alterations including Sertoli cell-only syndrome (SCOS), maturation arrest, and hypospermatogenesis. Microdeletions can be detected by using multiplex polymerase chain reaction (PCR)

Q. 4: What are the ill effects on ejaculated semen in cases of Yq11 deletion disorders? Ans:  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 such  setting .

Q.5:-What about endocrine assay?? of non-obstructive azoospermia or severe oligozoospermia .

Levels of serum follicle-stimulating hormone (FSH), luteinizing hormone (LH), testosterone (T), prolactin (PRL), and estradiol (E₂) were measured using chemiluminescence immunoassay and radioimmunoassay. Normal male reference ranges were FSH, 1.5–12.4 mIU/ml; LH, 1.7–8.6 mIU/ml; T, 2.41–8.27 ng/ml, PRL, 4.04–15.2 ng/ml, and E₂, 7.4–42.6 pg/ml are observed in these  cases pointing that only spermatogic cell lines (spermatogonia. Pri & Sec spermatocytes),  are affected but Leydig cells are Sertoli cells (Hormone producing lines).) are unaffected t Y chromosome microdeletion is a major genetic cause of primary male azoospermia.

Q, 6 : What about male sibling if ART is adopted?? Detection of Y chromosome microdeletions is of great use for guiding clinical diagnosis, helping selecting treatment schemes, and reducing the incidence of genetic diseases. Therefore , the importance of Y chromosome microdeletion screening and genetic counseling is strongly emphasized for infertile men prior to employment of assisted reproduction techniques.. 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.