Repair of congenital groin hernia/hydrocele and orchidopexy for the undescended testis are the most common surgical procedure performed by pediatric surgeons. Up to 1% of all men have been reported to have a congenital unilateral absence of the vas deferens (CUAVD).1 Previous studies have suggested that ipsilateral renal anomalies are present in up to 91% of men with a congenital unilateral abs...

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...

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...

Background: Mayer - Rokitansky - Kuster - Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part of the vagina in women showing normal development of secondary sexual characteristics and a normal 46, XX karyotype. Congenital anomaly of the female genital tract, estimated to occur in approximately 1 in every 5,000 females. It is caused by a failure of deve...

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...

Congenital bilateral absence of the vas deferens (CBAVD) is found in most males with cystic fibrosis (CF), but this malformation can be observed without any pulmonary or digestive features. We have analyzed 13 exons of the CF gene in a cohort of 25 CBAVD patients. Among the 50 chromosomes studied, 24 mutations were identified: delta F508 (14 cases), R117H (7 cases), R1070W (2 cases), 621 + 1 G ...

A qualitative diagnosis of infertility requires attention to female and male physical abnormalities, endocrine anomalies and genetic conditions that interfere with reproduction. Many genes are likely to be involved in the complex process of reproduction. Cystic fibrosis (CF) incidence varies in different White people populations (a higher incidence of CF is observed in northern–western European...

Aim: Congenital Bilateral Absence of the Vas Deferens (CBAVD) is a developmental abnormality that causes infertility in males. According to literature, up 88% CBAVD cases have at least one pathogenic Cystic Fibrosis Transmembrane Conductance Regulator gene (CFTR) mutation. However, based on our previous data, this rate was 15.90% Turkish patients with CBAVD. We aimed identify genomic copy numbe...