Background: The Y chromosome microdeletions belong to the frequent genetical causes of male infertility. The aim of our study was to introduce reliable molecular genetic diagnosis of Y chromosomal microdeletions and to determine the prevalence of Y chromosomal microdeletions in Czech males with serious reproductive disorders.
Methods and results: The Y chromosome microdeletions were screened in 198 Czech men with serious reproductive disorders with decreased sperm count. The Y chromosome microdeletions were disclosed in 8/198 (4.0%) examined males. The AZFc deletion type was revealed in 62.5% (5/8) and the combined AZFc + b microdeletion in 37.5% (3/8) of cases. Neither isolated AZFb nor AZFa microdeletion were found in any subject of the investigated group.
Conclusions: Incidence of individual types of Y chromosomal microdeletions in Czech males with serious reproductive disorders was assessed. The standardised molecular genetic diagnosis of Y chromosomal microdeletions was introduced into the practice.