[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].
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.
Marcelli
François
F
Service d'Andrologie, Hôpital Calmette, Lille, France. francois.marcelli@wanadoo.fr
Robin
Geoffroy
G
Mitchell
Valérie
V
Dumur
Viviane
V
Puech
Philippe
P
Lemaitre
Laurent
L
Rigot
Jean-Marc
JM
D000328:Adult; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D006801:Humans; D007248:Infertility, Male / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D014649:Vas Deferens / Q000002:abnormalities* / Q000473:pathology*
D019005:Cystic Fibrosis Transmembrane Conductance Regulator