Abstract
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.