SNP Shot: Genomic Insights

Congenital bilateral absence of the vas deferens (CBAVD) is a condition affecting males where the vas deferens, the tubes responsible for transporting sperm from the testicles, do not develop correctly. While the testicles typically function as expected, the inability to transport sperm prevents it from becoming part of semen. Consequently, men with CBAVD are typically infertile and require assisted reproductive techniques (ART) to conceive. Importantly, CBAVD does not typically affect libido or sexual function.

CBAVD can occur independently or be associated with cystic fibrosis (CF), a genetic disorder affecting mucus glands and causing damage to the respiratory and digestive systems. Many men with CBAVD do not exhibit other classic signs of CF; however, some may experience mild respiratory or digestive issues.

Inheritance:

When CBAVD is caused by mutations in the CFTR gene, it follows an autosomal recessive inheritance pattern. This means both copies of the CFTR gene in each cell must have a mutation for the condition to manifest. Men with CFTR-related CBAVD who conceive via ART have an increased risk of having a child with cystic fibrosis. However, if CBAVD is not linked to CFTR gene mutations, the risk of their offspring developing cystic fibrosis is not elevated.