Molecular control of fertilizing potential of male gamete in azoospermia: a study of genes en coding RBM, DAZ and TSPY

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

Markers of Endothelial cell dysfunction in subjects with impaired glucose tolerance

Endothelial Dysfunction usually precedes the occurrence of diabetic angiopathy. Several studies have been done to evaluate the role of markers of endothelial cell injury in diabetic patients, but no study was done in subjects with impaired glucose tolerance. The aim of the present study has been to measure the plasma levels of von Will br and factor [vWF], fibronectin [Fn] and thrombomodulin[TM], as markers of endothelial cell dysfunction, in subjects with IGT compared to normal healthy subjects. The study included 50 males with IGT free from clinically detectable vascular complications and 20 healthy male subjects matched for age and body mass index. All subjects were subjected to the following investigations: A st and ard oral glucose tolerance test, plasma fibronectin using RIDE assay, thrombomodulin using ELISA, von Willebr and factor, microalbuminuric assessment and lipid profile. We found that the plasma levels of both vWF and TM were significantly higher [p < 0.001] in subjects with IGT compared to normal control subjects. Serum Fn concentration was similar in both groups. profile. We concluded that subjects with IGT, like those with frank diabetes, are at higher risk for cardiovascular complications compared to subjects with normal glucose tolerance