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Management of male infertility due to congenital bilateral absence of vas deferens should not ignore the diagnosis of cystic fibrosis
Author(s) -
Grzegorczyk V.,
Rives N.,
Sibert L.,
Dominique S.,
Macé B.
Publication year - 2012
Publication title -
andrologia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.633
H-Index - 59
eISSN - 1439-0272
pISSN - 0303-4569
DOI - 10.1111/j.1439-0272.2012.01288.x
Subject(s) - cystic fibrosis , cystic fibrosis transmembrane conductance regulator , vas deferens , male infertility , infertility , intracytoplasmic sperm injection , obstructive azoospermia , ivacaftor , bronchiectasis , medicine , gynecology , andrology , biology , lung , pregnancy , genetics
Summary Microsurgical or percutaneous epididymal sperm aspiration and intracytoplasmic sperm injection ( ICSI ) are proposed to overcome male infertility due to congenital bilateral absence of vas deferens ( CBAVD ). CBAVD has been associated with mutations in the cystic fibrosis transmembrane conductance regulator ( CFTR ) gene and consequently, genetic counselling has to be addressed before beginning ICSI procedure. However, management of male infertility due to CBAVD should not ignore a mild form of cystic fibrosis. We describe the case of cystic fibrosis late diagnosis performed in a 49‐year‐old infertile men with CBAVD . CFTR molecular testing detected two mutations F 508del and A 455 E corresponding to a cystic fibrosis genotype. Pneumological evaluation revealed a severe obstructive respiratory disease, bronchiectasis and high sweat chloride levels. Symptoms consistent with a cystic fibrosis have to be identified in infertile men with CBAVD before beginning assisted reproductive procedures.