Molecular study on Y chromosome microdeletions in Egyptian males with idiopathic infertility

To determine the frequency of genetic deletions within the azoospermia factors in Egyptian infertile males.

The Yq microdeletions in 33 infertile males with undetectable chromosomal anomalies were examined by mutiplex polymerase chain reaction (PCR). Deletions were confirmed using single PCR amplifications.

Four out of the total 33 (12 %) men had Yq(11) microdeletions, thus supporting the average reported figures in other populations. Three of those 4 cases had single short tandem sequence deletions with discrete histological findings of their testes. Single sY272 deletion within AZFc was associated with Sertoli cell only syndrome, whereas a patient with isolated sY84 deletion within AZFa had immature testicular structure. The remaining case had a large deletion in AZFa-c and short stature.

The present study supports the hypothesis that the Yq(11) encompasses genetic determinants of stature besides genes controlling spermatogenesis.