title: Clinical, laboratory and genetic assessment of patients with congenital bilateral absent vas deferens.
abstract: The aim of this study was to assess the prevalence of Δ-F508 mutation and 5T allele in a sample of Egyptian patients having congenital bilateral absent vas deferens (CBAVD), to correlate between genotype and phenotypic genital pattern, and to demonstrate the value of micro-assisted reproduction in them. The study included thirty patients with CBAVD and 30 fertile controls. Clinical, laboratory and radiological examinations of the patients were performed. Genetic assessment of patients and controls as regards Δ-F508 mutation and 5T allele was done. Trials of testicular sperm extraction (TESE) and intracytoplasmic sperm injection (ICSI) were carried out for the patients. Δ-F508 mutation was present in 40% and 5T allele was detected in 46.6% of the patients. On the other hand, all the control group was negative as regards Δ-F508 mutation, while 5T allele was detected in 10% of them. The total fertilisation rate was 75% and pregnancy rate was 60% with no significant difference in fertilisation and pregnancy rates between cases positive for Δ-F508 or 5T allele and others. It is evident that Δ-F508 mutation and 5T allele play important roles in the pathogenesis of CBAVD in Egyptians. TESE/ICSI is a beneficial method to enable these patients to father children of their own.
authors.affiliation: Department of Dermatology, STD's & Andrology, Alexandria University, Egypt. tarekmhaa@hotmail.com
authors.forename: T M
authors.initials: TM
authors.lastname: Hussein
authors.forename: N H
authors.initials: NH
authors.lastname: Zakaria
authors.forename: A M
authors.initials: AM
authors.lastname: Zahran
mesh_terms: D000328:Adult; D000483:Alleles; D016022:Case-Control Studies; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004534:Egypt / Q000453:epidemiology; D005817:Genetic Counseling; D005838:Genotype; D006801:Humans; D007248:Infertility, Male / Q000453:epidemiology / Q000235:genetics / Q000628:therapy; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D015995:Prevalence; D020554:Sperm Injections, Intracytoplasmic / Q000379:methods; D053625:Sperm Retrieval; D014649:Vas Deferens / Q000002:abnormalities*
chemical_list: C093349:cystic fibrosis transmembrane conductance regulator delta F508; D019005:Cystic Fibrosis Transmembrane Conductance Regulator