الفهرس 
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Abstract
SUMMARY
Deletions of long arm of the Y chromosome are frequently associated with a failure of spermatogenesis. There is increasing evidence that the Y chromosome, in particular, genes on its long arm also directs spermatogenesis. With increasing knowledge of the DNA sequences on the Y chromosome and the availability of the PCR, it has become possible to determine whether these sequences are intact at a submicroscopic level. It delinates the location of specific regions of the Y chromosome sequence-tagged sites for which PCR primers are available, microdeletions in band q 11.23 have been detected.
Differences in deletion frequency among different population groups and studies of the same region are probably related to study design but they may reflect population variances and/or environmental factors.
The objective of this study was to define the frequency of Y chromosome microdeletions in a group of Egyptian patients suffering of azoospermia and severe oligozoospermia and to correlate the ocurrence of that deletions with testicular histopathology in azoospermics (genotype-phenotype relation) and other clinical data of the patients.
In the present study, genetic analysis of Y chromosome was carried out to 80 Egyptian men with severe male factor infertility. On the basis of their semen anaysis; 40 were azoospermia and 40 were severe oligozoospermia compared to 20 fertile men as control.
For each patient the following was done; history taking, clinical examination, both general and local genital with special care to the testicular volume, seminal analysis was done on at least two different occasions, determination of serum FSH, LH, and testosterone levels.
Testicular biopsy were obtained under cord block and local infiltration anaesthesia to the NOA group of patients. Histopathological evaluation as regards the main histopathological finding,quantitative evaluation was done.
PCR for the Y chromosome was done using a number of Y chromosome specific sequence tagged sites (STS) from a STS map, they included the AZFc region and more particularly the DAZ gene.
Y chromosome microdeletions were detected in 11 cases (27.5%) among the 40 azoospermic patients and in 8 cases (20.0%) among the severe oligozoospermic group. There are significant statistical correlation of the occurrance of deletions in relation to the control group which showed no deletions.
There was significant relation between the elevated serum FSH level and the deletion events, as the mean of serum FSH level had more marked increase in deleted patients.
Reduced testicular size was statistically significant in patients with AZFc-DAZ deletions in severe oligozoospermic group. Normal size testes also showed significant relation with the deletions events.
The genotype/phenotype correlation was limited in this study as we found that the deletion was associated with different spermatogenic pictures ranging between SCO (most frequent), maturation arrest, testicular atrophy, and normal spermatogensis.
There was no relation between the deletion events and other parameters such as the age of the patients, duration of infertility, and/or semen volume.
Microdeletions were not detected in the fertile control group, indicating that the deletions were de novo.
We found that Egyptian patients have an incidence which fall into the internationally puplished incidence range 1% - 55%.