BACKGROUND: About 10% of cases of male infertility are due to the presence of microdeletions within the long arm of the Y chromosome (Yq). Despite the large literature covering this critical issue, very little is known about the pathogenic mechanism leading to spermatogenesis disruption in patients carrying these microdeletions. In order to identify the presence of specific molecular pathways leading to spermatogenic damage, testicular gene expression

Wilson disease (WD) is an autosomal recessive disorder caused by a defect in ATP7B gene, coding for a metal transporting P-type ATPase, resulting in cooper overload mainly in liver and brain. Increased number of Wilson disease patients in a small mountain village next to Bran region led us to initiate a population screening. We firstly screened for mutation in five WD patients from five apparently unrelated families. Direct sequencing of all 21 exons

Microdeletions of the AZFa, AZFb and AZFc loci on Yq are detected in about 10% of infertile males. Despite the large amount of data collected in the last years, the biological mechanisms leading to the disruption of spermatogenesis in Yq deleted patients are still largely unknown. In this study we analyzed by microarray technology the testis expression profiles of patients with idiopathic infertility, patients carries of AZFc deletion and controls