Clinical and genetic study in male infertility with azoospermia

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.