genetics

Question

I underwent DNA testing and F508del/IVS8-5T+(TG)12 mutations was detected, which was probably a direct cause of azoospermia caused by CBAVD. Beside "the lack of seminal vesicles and distal parts of spermatic ducts, which were not visualized in USG", there are no clinical symptoms of the disease.
Are these mutations severe, are they associated with any clinical symptoms other than CBAVD, what are the perspectives for procreation with such bad results of DNA testing?

Answer

Dear Questioner,
This genotype (the presence of F508del/IVS8-5T+(TG)12 mutations) is usually not associated with any clinical symproms of cystic fibrosis, but can be responsible for isolated CBAVD, as it is observed in your case. In some cases CBAVD patients may develop mild lung symptoms and in rare exeptional cases even a mild form of CF, but as mentioned above, this is only the exeption and one should expect no further symptoms. However, it would be advisable to check for other symptoms in a center with CF-experience to make sure everything is o.k. or to treat early otherwise.
The CBAVD is a congential bilateral aplasia of the vas deferens, which means, the sperm, that is produced in the testicals can not reach the ejaculate as the spermatic ducts are obstructed. If there is the wish to have a child as a man with such a finding, there is the possibility to take sperm from the testicles and to inject it artificially directly into the femal oozyte, which is then transferred to the femal uterus .This is called intracytoplasmatic sperm injection(ICSI) in the frame of an in-vitro fertilization. Apart from the fertility, sexual life remains normal.
For further information, you should contact the specialist in CF and/or andrology.
With kind regards, prof. dr. hab. med. Wojciech Cichy and dr n. med. Natalia Kobelska-Dubiel and Dr. Daniela d'Alquen
(konsultacja: prof. dr. hab. Michał Witt)

09.11.2010