Cystic fibrosis and infertility caused by congenital bilateral absence of the vas deferens and related clinical entities

Cystic fibrosis and infertility caused by congenital bilateral absence of the vas deferens and related clinical entities.

The condition of congenital bilateral absence of the vas deferens (CBAVD) is, in the majority of patients, related to defects in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. CBAVD patients either are compound heterozygotes (carrying different mutations in their two CFTR genes) or carry a mutation in one of their CFTR genes and an intron 8 5T splice variant, associated wi...

The genetic basis of congenital bilateral absence of the vas deferens and cystic fibrosis.

Congenital bilateral absence of the vas deferens (CBAVD) has long been thought to be a rare and distinct clinical and genetic entity. However, it occurs in 1-2% of the infertile male population (Jequier et al, 1985). Recently, this disorder has been shown to represent a mild (reproductive) form of cystic fibrosis (CF) (Anguiano et al, 1992). This finding mandates that proper genetic counseling ...

Congenital bilateral absence of the vas deferens, cystic fibrosis mutation analysis and intracytoplasmic sperm injection.

The aim of this study was to assess the outcome of intracytoplasmic sperm injection (ICSI) with fresh and frozen-thawed surgically retrieved spermatozoa from men diagnosed with congenital bilateral absence of the vas deferens (CBAVD). Twenty-seven azoospermic men with their partners were treated [25 with CBAVD and two with clinical cystic fibrosis (CF)]. CF gene mutation analysis and genetic co...

Potential role of cystic fibrosis genetic modifier factors in congenital bilateral absence of the vas deferens

The complex relationships between cystic fibrosis and congenital bilateral absence of the vas deferens: clinical, electrophysiological and genetic data.

Congenital bilateral absence of the vas deferens (CBAVD) is found in 1-2% of infertile males and in most male cystic fibrosis (CF) patients. CF and some of the CBAVD cases were found to share the same genetic background. In this study, 21 males with CBAVD had extensive physical and laboratory testing for symptoms of CF. Possible defective cellular chloride transport was measured by interstitial...