• PMID: 17175965
• Gene Name: CFTR
• Condition: Unilateral agenesis of the vas deferens
• Association: Molecular analysis of the CFTR gene demonstrated composite heterozygosity with the presence of DeltaF508 / V938G mutations. In the light of this case, the authors recommend urogenital imaging for all men consulting for infertility.
• Mutation: DeltaF508 / V938G
• Age: 35 yrs
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Unilateral agenesis of the vas deferens

[Role of deep seminal tract imaging in the diagnosis of unilateral agenesis of the vas deferens. Case report of a patient with CFTR gene mutation]

Marcelli F, Robin G, Mitchell V, Dumur V, Puech P, Lemaitre L, Rigot JM.

The authors report the cases of a 35-year-old man with a 4-year history of primary infertility with normal clinical examination and semen parameters. Deep genital tract imaging demonstrated isolated unilateral agenesis of the pelvic portion of the left vas deferens associated with abnormalities of the homolateral seminal vesicle. Molecular analysis of the CFTR gene demonstrated composite heterozygosity with the presence of DeltaF508 / V938G mutations. In the light of this case, the authors recommend urogenital imaging for all men consulting for infertility. FAU - Marcelli, François AU - Marcelli F AD - Service d'Andrologie, Hôpital Calmette, Lille, France. francois.marcelli@wanadoo.fr FAU - Robin, Geoffroy AU - Robin G FAU - Mitchell, Valérie AU - Mitchell V FAU - Dumur, Viviane AU - Dumur V FAU - Puech, Philippe AU - Puech P FAU - Lemaitre, Laurent AU - Lemaitre L