[Therapeutic hopes in excretory azoospermia and genetic risks in congenital aplasia of the vas deferens].
Therapeutical solutions now can be proposed to some excretory azoospermia, using in vitro-fertilization with epididymal sperm. The encouraging results obtained with this new approach should be analyzed with the genetic risk, sometimes encountered in the specific form of azoospermia due to the congenital absence of the vas deferens. This abnormality is to day supposed to represent a moderate form of cystic fibrosis (CF), corresponding to a genital phenotype of this disease. This suggestion has been firstly induced by similar anatomical findings in the male individuals presenting a classical form of CF. The hypothesis has mainly been confirmed by the real progress in the genetic analysis of this disease. So an abnormally high percentage of known mutations of CF has been demonstrated in the patients with congenital absence of vas deferens. Other arguments such as positive sweat chloride tests, high percentage of sinusitis or presence of anti-pseudomonas antibodies, reinforce this hypothesis. It is the reason why a clinical and biological check-up, prior to any decision of therapy for infertility, in this specific indication should be done in order to propose a genetic counselling to the couple.
Cognat
M
M
Centre Fertily, Lyon.
Durieu
I
I
Bey-Omar
F
F
Pinatel
M C
MC
Mathieu
C
C
Morel
Y
Y
Vital Durand
D
D
D000328:Adult; D005260:Female; D005307:Fertilization in Vitro; D006801:Humans; D008297:Male; D009845:Oligospermia / Q000235:genetics / Q000628:therapy*; D011247:Pregnancy; D012307:Risk Factors; D014649:Vas Deferens / Q000002:abnormalities*
Espoirs thérapeutiques dans les azoospermies excrétoires et risques génétiques dans l'asplasie congénitale des canaux déférents.