Abstract:
Introduction. Worldwide, it has been estimated that about 7% of all men experience
infertility. About 20% of the causes of male infertility are of genetic etiology.
The most common genetic causes reported are chromosomal abnormalities
and Y chromosome microdeletions.Purpose. Study of chromosomal variations, Y chromosome microdeletions and
mutations in the CFTR (Cystic fibrosis transmembrane conductance
regulator) gene in men with azoospermia.Material and methods.Results.Of 96 cases of men with azoospermia, 35 (36.4%) showed genetic variations and 61
(63.6%) without changes.
25%
9.60%
3.10%
0%
5%
10%
15%
20%
25%
30%
Chromosomal
abnormalities
Y Chromosome
microdeletions
CFTR gene
mutations
In the 35 patients, in 24 (25%) cases
chromosomal abnormalities were found, in
10 (9.6%) patients the microdeletions of the
Y chromosome in the AZF region, of which
in 8 cases they presented normal karyotype
46,XY and in 2 cases variations in karyotype.
In 3 (3.1%) men were diagnosed as carriers
of mutations in the CFTR - ΔF508 gene; for
calculating the risk of recurrence in
offspring were also investigated their wives,
who were homozygous.Conclusions.Clinical-genetic evaluation of couples with male infertility associated with
azoospermia is necessary, not only for the correct establishment of the diagnosis
but also for their treatment.
