CFTR mutations enhance susceptibility for idiopathic chronic pancreatitis (ICP) and congenital bilateral absence of the vas deferens (CBAVD); however, it is unknown why CFTR heterozygotes are at increased disease risk. We recently showed that common CFTR variants are associated with aberrantly spliced transcripts. Here, we genotyped for common CFTR variants and tested for associations in two IC...

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 ...

BACKGROUND Mutations of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) can cause congenital bilateral absence of the vas deferens (CBAVD) as a primarily genital form of cystic fibrosis. The spectrum and frequency of CFTR mutations in Turkish males with CBAVD is largely unknown. METHODS We investigated 51 Turkish males who had been diagnosed with CBAVD at the Hacettepe Universi...

Background The genetic association between cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations and male infertility due to congenital bilateral absence of vas deferens (CBAVD) is well established. Mutant CFTR, however may also be involved in the etiology of male infertility in non-CBAVD cases. The present study was conducted to estimate the frequency of ΔI507 and ΔF508 CFT...

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...

background: the genetic association between cystic fibrosis transmembrane conductance regulator (cftr) gene mutations and male infertility due to congenital bilateral absence of vas deferens (cbavd) is well established. mutant cftr, however may also be involved in the etiology of male infertility in non-cbavd cases. the present study was conducted to estimate the frequency of δi507 and δf508 cf...

BACKGROUND & OBJECTIVES The role of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in congenital bilateral absence of vas deferens and unilateral renal agenesis (CBAVD-URA) has been controversial. Here, we report the cases of five Indian males with CBAVD-URA. The objective was to evaluate the presence or absence of CFTR gene mutations and variants in CBAVD-URA. The fe...

Introduction and Aims. Congenital absence of the vas deferens is an uncommon anomaly and this clinical condition is responsible for up to 1-2% of male infertility. It can be either unilateral or bilateral and the associated anomalies include cryptorchidism, seminal vesicles and ejaculatory ducts anomalies, and renal anomalies such as renal agenesis. We hereby present a case of congenital unilat...

INTRODUCTION Congenital bilateral absence of vas deferens (CBAVD) is a non-treatable cause of obstructive azoospermia (OA). However, the affected men can father children by undergoing sperm retrieval (SR) and intracytoplasmic sperm injection (ICSI). MATERIALS AND METHODS This video describes percutaneous epididymal sperm aspiration (PESA), performed on a 36 year--old male with CBAVD. In PESA ...