RESUMO
Male factor infertility accounts for about half the cases of couple infertility. Testicular sperm extraction [TESE] with ICSI has now enabled the treatment of non-obstructive azoospermia. One might now therefore suggest that a proportionately greater risk of sex chromosome aneuploidy arise where TESE is used for patient with non-obstructive azoospermia. Three non-overlapping regions of microdeletions in Yq11 [AZFa, AZFb [RBM], and AZFc [DAZ]] have been identified that are probably responsible for azoospermia or oligozoospermia. In absence of detectable RBM protein, germ cells develop up to early meiotic stages but not beyond this, so that RBM is essential for progression through meiosis. Deletions in the AZFc region involving the DAZ gene were the most frequent finding and they were more often seen in severe hypospermatogenesis than in Sertoli cell-only syndrome. Another gene family TSPY [Testis-Specific protein, Y-encoded] is located on the short arm of the Y chromosome at Yp11.2. The aim was to study the genes encoding RBM, DAZ and TSPY in functional azoospermic males. Patient group: 50 infertile male patients with non-obstructive azoospermia [NOA]. The diagnosis of the cases was produced by histopathology. Control group include 10 normal fertile males and negative control 5 females. All patients are subjected to: semen analysis, hormonal assay FSH, LH, testosterone and prolactin and histopathological examination of testicular tissue. All groups are subjected to:- Extraction of genomic DNA from peripheral blood leucocyte and polymerase chain reaction to detect deletion in DAZ, RBM, and TSPY. Total deletion is [28%], DAZ deleted in [12%], RBM deleted in 4%, RBM+DAZ deleted in 8% and TSPY was deleted in 4% of patients. Microdeletion involving Ychromosome [DAZ, RBM, TSPY] is not rare among cases of non obstructive azoospermia [NOA]. All patients with NOA should undergo screening of Y chromosome by PCR specially those seeking assisted reproductive techniques. Also diagnosis of the deletion gives the cause of spermatogenic failure and no need for further therapy