Chromosomal abnormality in men with impaired spermatogenesis.
BACKGROUND
Chromosomal abnormalities and Y chromosome microdeletions are regarded as two most frequent genetic causes associated with failure of spermatogenesis in the Caucasian population.


METHODS
To investigate the distribution of genetic defects in the Romanian population with azoospermia or severe oligozoospermia, karyotype analysis by G-banding was carried out in 850 idiopathic infertile men and in 49 fertile men with one or more children. Screening for microdeletions in the azoospermia factor (AZF) region of Y chromosome was performed by multiplex polymerase chain reaction (PCR) on a group of 67 patients with no detectable chromosomal abnormality. The results of the two groups were compared by a two-tailed Fisher's exact test.


RESULTS
In our study chromosomal abnormalities were observed in 12.70% and 8.16% of infertile and fertile individuals respectively.


CONCLUSIONS
Our data suggests that infertile men with severe azoospermia have higher incidences of genetic defects than fertile men and also patients from any other group. Infertile men with normal sperm present a higher rate of polymorphic variants. It is important to know whether there is a genetic cause of male infertility before patients are subjected to intracytoplasmic sperm injection (ICSI) or testicular sperm extraction (TESE)/ICSI treatment.
Life Memorial Hospital, Bucharest, Romania ; Department of Genetics, Faculty of Biology, University of Bucharest, Bucharest, Romania.
Dana
D
Mierla
Life Memorial Hospital, Bucharest, Romania.
Dumitru
D
Jardan
Department of Genetics, Faculty of Biology, University of Bucharest, Bucharest, Romania.
Veronica
V
Stoian
Azoospermia; Chromosomal Abnormality; Chromosome Microdeletion; Male Infertility; Oligozoospermia