Despite the current lack of understanding the mechanism of deleterious of Y chromosome microdeletions and their prognostic influence on male subfertility, the Y chromosome microdeletion test is ...widley used in the diagnostic evaluation of male subfertility. However, currently used diagnostic schemes have not been sufficiently evaluated for their diagnostic performance. The purpose of this study was to analyze a large database of published Y chromosome microdeletions to develop the optimal screening strategy for male subfertility. Therefore, we created a databse from genetic and clinical data published in 54 peer-reviewed studies reporting on 512 caseswith Y chromosome microdeletions. We developed a computerized procedure with the goal rate in patients with microdeletions. We estimate that 85.6% of all published Y chromosome microdeletions can be covered by a set of six genetic markers (sY84, sY127, sY152, RBMY1, sY147, sY254-DAZ). If the patients with a single-marker microdeletion are not considered for the analysis, the sensitivty of the test increases to 19.8%. Inclusion of additional markers brings relatively little to the sensitivity of the test andis potentially related to the population origin.
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