• PMID: 18050608
• Gene Name: CFTR
• Condition: Azoospermia, oligospermia or asthenoteratozoospermia.
• Association: The results of the study revealed the presence of F508del and IVS8-T in 5.4% of analyzed cases. No difference in CFTR gene mutations frequencies among patients with azoospermia, oligospermia and asthenoteratozoospermia has been observed.
• Mutation: F508del, IVS8-T
• Population size: 93
• Population details: 93 infertile men, diagnosed with either azoospermia, oligospermia or asthenoteratozoospermia.
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Azoospermia, oligospermia or asthenoteratozoospermia.

[The analysis of CFTR mutations in men with azoospermia, oligozoospermia and asthenozoospermia]

Slezak R, Szczepaniak M, Pasi?ska M, Czemarmazowicz H.

Mutations in cystic fibrosis transductance regulator gene (CFTR) are known to result in some forms of male infertility. An association between CFTR gene mutations and obstructive azoospermia in cystic fibrosis (CF) and in congenital unilateral and bilateral absence of vas deferens (CUAVD, CBAVD) has been proven. However, the role of CFTR gene mutations in the etiology of non-obstructive azoospermia, as well as in the regulation of spermatogenesis remains unsolved. OBJECTIVES: The aim of the study was to evaluate the frequency of CFTR mutations in patients diagnosed with different forms of spermatogenesis impairment MATERIAL: The molecular analyses were performed in the group of 93 infertile men, diagnosed with either azoospermia, oligospermia or asthenoteratozoospermia. RESULTS: The results of the study revealed the presence of F508del and IVS8-T in 5.4% of analyzed cases. No difference in CFTR gene mutations frequencies among patients with azoospermia, oligospermia and asthenoteratozoospermia has been observed. CONCLUSION: The CFTR gene mutations frequency in men with nonobstructive azoospermia, oligozoospermia and asthenozoospermia is similar to those observed in general population. FAU - Slezak, Ryszard AU - Slezak R AD - Katedra i Zakład Genetyki Akademii Medycznej we Wrocławiu. slezak@gen.am.wroc.pl FAU - Szczepaniak, Małgorzata AU - Szczepaniak M FAU - Pasińska, Magdalena AU - Pasińska M