A 10-year-old boy with cystic fibrosis (CF) (DeltaF508/G551D mutation) underwent an uneventful elective interval laparoscopic appendectomy. During routine laparoscopic inspection of the abdomen and groins, congenital bilateral absence of the vas deferens was noted. Pictures of the patient's internal inguinal ring noted at time of laparoscopy are presented and compared with a similar-aged patien...

The involvement of the five thymidine (5T) variant in intron 8 of the cystic fibrosis membrane regulator (CFTR) gene in congenital bilateral absence of the vas deferens (CBAVD) phenotype has been extensively demonstrated. This variant leads to alternative splicing of the CFTR gene which results in a wild-type transcript and one without exon 9. Little is known about expression of the CFTR gene i...

PURPOSE To evaluate the significance of molecular detection of cystic fibrosis transmembrane conductance regulator (CFTR) M470V, intron 8 poly-T, and intron 8 TG-repeats in congenital bilateral absence of the vas deferens (CBAVD). METHODS Eighty-nine male patients with CBAVD and 103 healthy males were included in this study. Polymerase chain reaction was performed to amplify the polymorphic r...

BACKGROUND Congenital bilateral absence of the vas deferens (CBAVD) is a distinct clinical entity accounting for approximately 25% of obstructive azoospermia in infertile men. The association between CBAVD and mutated CFTR (cystic fibrosis transmembrane conductance regulator) alleles is well demonstrated in Caucasians, but the identity of CBAVD-susceptibility genes remains elusive in Asians. We...

Congenital bilateral absence of the vas deferens (CBAVD) is a frequent cause of obstructive azoospermia, and mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene have also been frequently identified in patients with CBAVD. However, the distribution of the CFTR polymorphisms M470V, poly-T, TG-repeats and F508del mutation in the Chinese CBAVD population with presumed l...

OBJECTIVES Within a randomised trial of neonatal vitamin A supplementation (VAS) in Guinea-Bissau, neonatal VAS did not affect overall infant mortality. We conducted a post-hoc analysis to test the hypothesis that neonatal VAS primes the response to subsequent vitamin A. METHODS All trial children were offered VAS after follow-up ended at 1 year of age (FU-VAS). We compared mortality between ...

It has previously been shown that defects in the cystic fibrosis transmembrane conductance regulator (CFTR) gene are largely responsible for the condition of congenital bilateral absence of the vas deferens (CBAVD), without associated renal abnormalities, in Caucasian populations. To assess the involvement of the CFTR in CBAVD in a population with presumed low cystic fibrosis (CF) frequency, we...

Objectives: Almost all men with Cystic Fibrosis (CF) are infertile mainly because of congenital bilateral aplasia vas deferens, VD (CBAVD) resulted to obstructive azoospermia. Some 3849+10kbC>T variant the CFTR gene can be fertile no obstruction, however factor(s) this phenotypic variability unknown. Materials and methods: We examined 23 adult PS-CF, having gene. Semen examination, clinical, an...

Congenital bilateral absence of vas deferens (CBAVD) is a manifestation of the mildest form of cystic fibrosis (CF) and is characterized by obstructive azoospermia in otherwise healthy patients. Owing to the availability of assisted reproductive technology, CBAVD patients can father children. These fathers are at risk of transmitting a mutated allele of the CF transmembrane conductance regulato...

Congenital bilateral absence of the vas deferens (CBAVD) is characterized by azoospermia and male infertility. Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene are associated with cystic fibrosis (CF), the most common autosomal recessive disorder in Caucasians. Recent publications on CBAVD raised the question whether CFTR gene mutations are responsible for CBAVD ...