الفهرس 
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Abstract
Background: This study aimed to investigate five cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Egyptian infertile males, either with congenital bilateral absence of the vas deferens (CBAVD) or with primary infertility. The essentiality of screening for CFTR mutations in infertile Egyptian males with or without CBAVD before assisted reproductive technology (ART) will also be evaluated. Methods: Blood samples were collected from 55 healthy controls and 68 infertile males. Among of them, 28 were with CBAVD, 22 teratozoospermia, and 18 were with Oligoasthenoteratozospermia (OAT). Fresh semen samples and hormonal profiles were quantized. Further, screening for CFTR gene mutations was done. Results: 15 males with heterozygous CFTR mutations were observed among the studied 68 individuals. They were 10 of 28 (35.7%) males with CBAVD, 3 of 22 (13.6%) of those with teratozoospermia, and 2 of 18 (11.1%) of those with OAT. Only 3 of the studied five mutations gave positive results in our infertile patients. Thus, the total numbers of CFTR mutations were 16. This is because one of the CBAVD patients had 2 mutations. These are ΔF508 (n=11, 16.2%), W1282X (n=4, 5.9%), and R117H (n=1, 1.4%). Conclusions: The results of this study necessitate the examination of CFTR gene mutations not only in CBAVD but also in the other types of male infertility. The non-significant differences in hormonal profiles among patients with mutated gene and those without mutations confirm such necessitation.