Abstract
CFTR mutation analysis is recommended for congenital bilateral aplasia of the vas deferens as well as for cystic fibrosis. Aside azoospermia, the association of CFTR mutations with male infertility is still unclear. A total of 2146 men from couples with reproductive problems were screened for CFTR mutation and intron 8 poly-Т polymorphism (IVS8). Semen analysis was examined for 1820 men. Molecular haplotyping to detect linked TG repeats was performed for IVS8 5T cases. Among 5T alleles only 5T-12TG and 5T-13TG were classified as mutations. Our data showed that 12 patients were compound heterozygotes (all azoospermic) and 4.2% patients were carriers of one mutation. CFTR mutation frequency was significantly higher for azoospermia group to compare with oligozoospermia, severe oligozoospermia, asthenozoospermia and normozoospermia groups. For couples in which man had compound genotype we analyzed infertility threatment accomplished in our clinic (N = 8): 13 IVF-ICSI cycles (in vitro fertilization and intracytoplasmic sperm injection) and two artificial inseminations with donor sperms. Acceptable quality testicular sperms for ICSI have been received by testicular biopsy in all cases. Pregnancy and delivery were achieved for 7 couples.
Published Version
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