Chromosomal Abnormality in Men with Impaired Spermatogenesis

Abstract

Background: Chromosomal abnormalities and Y chromosome microdeletions are regarded
\nas two most frequent genetic causes associated with failure of spermatogenesis in
\nthe Caucasian population.
\nMaterials and Methods: To investigate the distribution of genetic defects in the
\nRomanian population with azoospermia or severe oligozoospermia, karyotype analysis
\nby G-banding was carried out in 850 idiopathic infertile men and in 49 fertile
\nmen with one or more children. Screening for microdeletions in the azoospermia
\nfactor (AZF) region of Y chromosome was performed by multiplex polymerase
\nchain reaction (PCR) on a group of 67 patients with no detectable chromosomal
\nabnormality. The results of the two groups were compared by a two-tailed Fisher’s
\nexact test.
\nResults: In our study chromosomal abnormalities were observed in 12.70% and 8.16% of
\ninfertile and fertile individuals respectively.
\nConclusion: Our data suggests that infertile men with severe azoospermia have
\nhigher incidences of genetic defects than fertile men and also patients from any
\nother group. Infertile men with normal sperm present a higher rate of polymorphic
\nvariants. It is important to know whether there is a genetic cause of male infertility
\nbefore patients are subjected to intracytoplasmic sperm injection (ICSI) or testicular
\nsperm extraction (TESE)/ICSI treatment.