What is the main consequence of the CFTR gene mutation related to the male reproductive system?

The consequence of a CFTR gene mutation primarily affecting the male reproductive system is the absence of the vas deferens, a condition known as congenital absence of the vas deferens (CAVD). This is a significant and well-documented consequence of mutations in the CFTR gene, which is most commonly associated with cystic fibrosis.

In males, the vas deferens is responsible for transporting sperm from the epididymis to the ejaculatory duct. When this structure is absent due to CFTR mutations, there can be a significant impact on fertility, leading to infertility. Men with CAVD typically have normal testicular function and can produce sperm, but the lack of a functional vas deferens means that sperm cannot reach the urethra to be ejaculated.

Understanding this consequence helps highlight the importance of genetic counseling for men with CF or those planning to have children, as this condition can be a relevant factor in family planning and reproductive options. The other options, while related to health concerns, do not accurately capture the direct impact of CFTR mutations on male reproductive anatomy and function.