A male 14 months old had deferential abnormalities during orchidopexy. The genetic study demonstrate cystic fibrosis (∆F508 / ∆F508). A literature review of the genetic alterations observed in patients with congenital unilateral and bilateral absence of the vas deferens was underwent as well as the role of cystic fibrosis trans membrane conductance regulator gene on fertility.

Abstract Introduction Congenital Bilateral Absence of the Vas Deferens (CBAVD) is a condition leading to obstructive azoospermia and male infertility. CBAVD associated with mutations in cystic fibrosis transmembrane conductance regulator (CFTR) gene. Unilateral (CUAVD), where only one vas deferens missing, also CFTR However, genetic causes both conditions are not fully understood warrant furthe...

Duplication of the vas deferens is a rare anomaly, defined as the presence of two distinct vasa deferentia within one spermatic cord, with only 28 cases reported worldwide since 1959. We report the case of a 63-year-old man with a duplicate vas deferens, presenting with abdominal pain from bowel obstruction secondary to incarcerated inguinal hernia. Spermatic cord dissection during hernioplasty...

Between 1994 and 2010, a total of 123 patients with obstructive azoospermia due to aplasia of vas deferens (CAVD) were surgically treated. In 110 patients, the condition was bilateral (CBAVD), 13 men had unilateral aplasia (CUAVD), and 10 patients additionally had aplasia of one kidney. All patients underwent CFTR genetic testing, which detected two mutations (homozygous or compound heterozygou...

Secretion of electrolytes and water by the epididymal epithelium is important in the formation an optimal fluid environment for sperm maturation and transport. This process is disrupted in the genetic disease cystic fibrosis caused by mutation of the cystic fibrosis transmemebrane conductance regulator (CFTR) gene. Recent findings of CFTR gene mutations in healthy men with congenital bilateral ...