Male infertility as the only presenting sign of cystic fibrosis when homozygous for the mild mutation R117H Since the identification of the cystic fibrosis gene (CFTR),' more than 265 mutations have been described (CF Genetic Analysis Consortium, 1992). The most common disease causing mutation, AF508, occurs in approximately 70% of CF chromosomes and causes moderate to severe disease,' with var...

CFTR transcripts have been qualitatively and quantitatively analysed in nasal epithelial and vas deferens cells by means of reverse transcription PCR. Alternative splicing of exon 9, which is known to occur in nasal epithelial cells, also occurred in vas deferens cells. The extent of this alternative splicing was determined by the allele present at the Tn locus at the end of intron 8 of the CFT...

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 ∆I507 and ∆F508 CFTR gene muta...

BACKGROUND The cystic fibrosis transmembrane conductance regulator (CFTR) is a cAMP-activated Cl(-) and HCO(3)(-) conducting channel, mutations of which are known to be associated with male infertility. However, the underlying mechanisms remain elusive. METHODS Literature databases were searched for papers on the topics related to CFTR and male fertility and infertility with relevant keywords...

BACKGROUND Congenital unilateral absence of the vas deferens occurs in 0.5%-1.0% of males. It has been associated with various genitourinary abnormalities, including renal agenesis. We report a case of congenital unilateral absence of the vas deferens found incidentally during vasectomy in a patient with known unilateral renal agenesis. CASE PRESENTATION A 24-year-old male presented to our ur...

Congenital agenesis of the seminal vesicle (CASV) is frequently associated with congenital absence of the vas deferens (CAVD) or ipsilateral congenital vasoureteral communication. We reported two cases of a rare condition that the vas deferens open ectopically into Mullerian duct cyst associated with agenesis of the ipsilateral seminal vesicle. The diagnosis was confirmed by vasography. Transur...

PURPOSE We evaluated the retrieval rates and reproductive outcomes of percutaneous sperm retrieval according to the cause of obstructive azoospermia. MATERIALS AND METHODS We retrospectively studied the records of 146 men with obstructive azoospermia who underwent sperm retrieval for intracytoplasmic sperm injection. Patients were grouped by the cause of obstruction, including 32 with congeni...