Multiple Genetic defect in a male to cause azoospermia (NOA) & subfertity

 

Multiple Genetic defect in a male to cause azoospermia (NOA) &  subfertity may be Three kinds of genetic defects  ina single man!!!! 

Y chromosome anomalies are closely associated with non-obstructive azoospermia (NOA), a major etiology in male infertility. We are aware of that for 4 decades .

 

Klinefelter syndrome (KS) and

 Y chromosome microdeletions are some of the well-identified genetic defects in this regard, while Y chromosome aneuploidies have been reported to be susceptive. We also  were  aware of that for 2 decades .

 

 

 But recently clinicians have reported

a rare case of a patient presenting with three complex genetic defects: like A) mosaic Y chromosome aneuploidy; B) loss of the heterochromatin region in the q arm of the Y chromosome (Yqh-); and C)  azoospermia factor C subregion (AZFc) microdeletion in a single case.

 

.Such men had been subfertile for five years. Semen analysis confirmed total azoospermia along with an unaffected hormonal profile for serum follicle stimulating hormone (FSH), luteinizing hormone (LH), and prolactin levels.

 

Since the microdeletion analysis of azoospermia factor (AZF) region revealed the presence of three microdeletions in the AZFc region, the patient was offered intracytoplasmic sperm injection (ICSI) upon the retrieval of sperm by testicular sperm extraction (TESE) as the best possible assisted reproductive treatment (ART) option.

 

It was further suggested to carry out pre-implantation genetic screening (PGS) in order to facilitate the transfer of only female embryos, thus preventing the dissemination of Y chromosomal anomalies.