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.


METHODS
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 transmembrane 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 vas 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 multiple failed IVF and recurrent spontaneous abortion.
Stipoljev
Feodora
F
Clinical Cytogenetic Laboratory, Department of Obstetrics and Gynecology, Medical School, University of Zagreb, Sveti Duh Hospital, Sveti Duh 64, 10000 Zagreb, Croatia. stipoljev@yahoo.com
Vujisić
Sanja
S
Parazajder
Josip
J
Hafner
Daria
D
Jezek
Davor
D
Sertić
Jadranka
J
D000328:Adult; D053713:Azoospermia / Q000097:blood* / Q000235:genetics*; D001706:Biopsy; D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D020732:Cytogenetic Analysis / Q000379:methods*; D004252:DNA Mutational Analysis; D005307:Fertilization in Vitro; D005640:Follicle Stimulating Hormone / Q000097:blood*; D056426:Genetic Loci; D006801:Humans; D007124:Immunoenzyme Techniques; D007621:Karyotyping; D008214:Lymphocytes / Q000648:ultrastructure*; D008297:Male; D029589:Seminal Plasma Proteins / Q000235:genetics; D020554:Sperm Injections, Intracytoplasmic; D013737:Testis / Q000473:pathology* / Q000648:ultrastructure
D029589:Seminal Plasma Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D005640:Follicle Stimulating Hormone