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Seed ladder (vas deferens) interrupted in a baby

Question
Hello, my son (18 months) has been operated due to a retained testicle and during the procedure, the physicians found that the seed ladder was interrupted for a length of 3 cm. They did not give any further information, only that it could be related to the retained testicle. I found in the internet that it could be a mild form of Cystic fibrosis. That frightened me a lot. Unfortunately we do not know, what about the other side, where the testicle is not retained. My question: can it be that the other seed ladder is normal? And could a mild form of CF be detected by the newborn CF-screening? And in case it would really be a mild form of CF: did my son inherit it from both of us? And would that mean that further children coud inherit CF from us? Or could be then only inherit a mild form of CF?
Best regards,
Answer
Dear questioner,
the probability, that the testicle descended normally on the other side and that everything is functioning well, meaning fertility is normal, is high. Only in case of an impairment of transport of the seemen on both sides, it would be in impairment of fertility.
A special case of an impairment of the semen transport is an inherited, genetically caused impairment of the structure of the seed ladders (vas deferens) [congential bilateral aplasia of the vas deferens; CBAVD]. Here, there are two genetic changes in one gene (CFTR-gene) that lead to a bilateral aplasia of parts of the seed ladders, the seed bladders or the epididymes. The CBAVD is a special form of a mild CF, that is what you probably found information on the internet about.
In the first sight you would not think of CF in case of a not descended testicle. Me and my collegues with much experience in the field of CF cannot report about a case of CF and a not descended testicle. However, if you look in the literature, there are indeed some case reports about patients with CF and problems with the testicles. This is however not the standard clinical case but more an exception.
In case of CBAVD there are normally both seed ladders involved. The CF-newborn screening ist relatively secure, however there are few false negative results.
The cooperation between the pediatrician and the CF-centre is important.
A mild form of CF can always be diagnosed. Of course a child has inherited CF from both parents and then further children can suffer from it, too. It can not be predicted, if the illness of CF will take a mild or a severe course. This can be partially predicted after a genetic analysis with the knowledge of the exact mutations. But the probability that your son suffers from CF is small.
Are there any clinical symptoms that are typical for this disease? Is the skin salty? Is there a failure to thrive? Are there many episodes of bronchitis?
Please conatct your pediatrician and discuss with him the probablilty of CF. In case there would be a suspicion, a sweat test in the nearest CF-center would be recommended.
Best regards,
Dr- H.-E. Heuer

Literature:
Holsclaw DS 1971 u.a. maldescended testicle in males with CF
Goshen R 1992 undescended testis and absense of vas deferens
Profka E 2020 bilaterale Hodenatrophie bei CF
15.02.2021