engleski

Cytogenetic analysis of azoospermic patients : karyotype comparison of peripheral blood lymphocytes and testicular tissue

Objective: The objective was to compare the results of a complete chromosomal, genetic and histological investigation in 13 azoospermic men with the results of the intracytoplasmic sperm injection (ICSI) procedure. Study design: Peripheral blood samples were used for the measurement of follicle- stimulating hormone (FSH) levels, chromosomal analysis, microdeletions in the azoospermia factor (AZF) region of the Y chromosome and cystic fibrosis thansmembrane conductance regulator (CFTR) mutation analysis. Testicular tissue was used for histological scoring and cytogenetic evaluation. Results: Peripheral blood cytogenetic analysis revealed a normal male karyotype in all cases. Chromosomal analysis from testicular tissue revealed a mosaicism for the terminal deletion of chromosome 22 with a breakpoint site at 22q13 in one patient with congenital bilateral absence of the deferens (CBAVD). Deletions in the AZFa, ATFb and AZFc regions were not detected. The CFTR mutational analysis showed normal results in all patients. Conclusions: Cytogenetic evaluation of testicular tissue should be performed in non- obstructive and obstructive azoospermic patients as well as in patients with miltiple failed IVF and recurrent spontaneous abortion.

azoospermia; cytogenetic analysis; cystic fibrosis; Y chromosome microdeletions; testicular histology

nije evidentirano