title: Clinical, andrological and genetic characteristics of patients with congenital bilateral absence of vas deferens (CBAVD).
abstract: Congenital bilateral absence of the vas deferens (CBAVD) is a form of infertility with an autosomal recessive genetic background in otherwise healthy males. In this study, we examined the clinical and cystic fibrosis transmembrane-conductance regulator (CFTR) gene mutations in sixty patients with bilateral absence of vas deferens that applied to andrology clinic due to male factor infertility. Urogenital anomalies of vas deferens, seminal vesicle and epididymis were detected in our patient group. CFTR gene mutations, which are known to be frequent among cystic fibrosis patients, could not be detected in our patient group with that high frequency. Delta F508 mutations were detected in only 6% of patients. IVS8 polyT alleles were positive in 68% of patients. No 1677delTA mutations and M470V variants were detected in our patient group. However, sperm retrieval is almost always possible from CBAVD patients; secondary pathologies may also result defective spermatogenesis.
authors.affiliation: Department of Medical Biology, Faculty of Medicine, Afyon Kocatepe University, Afyon, Turkey.
authors.forename: H
authors.initials: H
authors.lastname: Samli
authors.forename: M M
authors.initials: MM
authors.lastname: Samli
authors.forename: E
authors.initials: E
authors.lastname: Yilmaz
authors.forename: N
authors.initials: N
authors.lastname: Imirzalioglu
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D004822:Epididymis / Q000002:abnormalities; D006801:Humans; D007248:Infertility, Male / Q000209:etiology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D012669:Seminal Vesicles / Q000002:abnormalities; D053625:Sperm Retrieval; D013091:Spermatogenesis; D014649:Vas Deferens / Q000002:abnormalities*
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator