title: [Genetically determined male infertility caused by the CFTR gene mutations].
abstract: One of the reasons for the genetically determined male infertility is congenital bilateral absence of the vas deferens (CBAVD). CBAVD until recently classified as a separate disease, is now recognised to be a form of atypical CF (cystic fibrosis). The above is based on the fact that both CF and CBAVD result from mutations in the same CFTR gene. Assisted reproduction techniques (ART), including the ICSI (IntraCytoplasmic Sperm Injection) technique, is an acknowledged chance of having offspring for males with extremely bad semen quantitative parameters, including CBAVD patients. Molecular analysis of the CFTR gene along with genetic counselling enables to estimate the risk of having offspring with classical or atypical CF after ICSI procedure.
authors.affiliation: Zaklad Genetyki Medycznej, Instytut Matki i Dziecka, Kasprzaka 17A, 01-211 Warszawa, Poland. agnieszk@imid.med.pl
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Sobczynska-Tomaszewska
mesh_terms: D003550:Cystic Fibrosis / Q000150:complications / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004252:DNA Mutational Analysis; D005817:Genetic Counseling / Q000379:methods; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D009154:Mutation; D020554:Sperm Injections, Intracytoplasmic / Q000379:methods; D013091:Spermatogenesis / Q000235:genetics; D014649:Vas Deferens / Q000002:abnormalities
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator