Background and objective: It is well known that both azoospermia and oligozoospermia are associated to microdeletions of single tagged sites (STS) in the long arm of the Y chromosome. Characterization of deletions is carried out by polymerase chain reaction, although the number and regions included in the analysis varies between laboratories. The aim of this study was to analyze the presence of chromosome Y microdeletions using 2 different sets of STSs.
Patients and method: We analysed the presence of microdeletions in the Yq chromosome in 30 patients with idiopathic male infertility, using 2 sets of STSs, those proposed by the European Molecular Genetics Quality Network (EMQN) as first choice and those of the Y Chromosome Deletion Detection System (Promega).
Results: AZF microdeletions were detected in 4 patients (13%). Only one case was detected simultaneously with both sets.
Conclusion: In patients with idiopathic male infertility detection of AZF microdeletion in Y chromosome has important methodological problems. Further studies are needed to achieve a more reliable method to be used by clinical laboratories.