DF508 in heterozygote state

Question

After being tested for infertility for 75% (very small number of sperm cells) the DF508 mutation was found in heterozygote state. My wife will get tested for 99%.
Must I get further testing?
Apart for the infertility issue, are there any issues that I should know about?

Answer

Dear friend
You do not mention that you have congenital bilateral absence of vas deferens (CBAVD), only oligospermy. This needs clarification since I do not have your sperm diagram.
You report that you were checked for a 75%. Does this percentage relate to the infertility issue, or the percentage of the CF mutations you were checked for? This is a very important information.
CBAVD is found in 1-2% of males with sterility and is estimated to be present in 6% of males with obstructive azoospermy.
In your case, in males with CBAVD or severe oligospermy the CF mutations are more readily detected in comparison to the general population. There is a connection between CBAVD and CF, since about 95%98% of males with CF will present sterility due to CBAVD.
Some mild CF mutations, when compared to typical CF mutations, may cause a mild manifestation of the disease, where sterility is the reason for diagnosing CF.
Regarding your question, if you have CFTR related disease, I would like to know your age, if you have a history of chest infections, a history of pancreatitis, dehydration, nasal polyps, and if you were actually tested for 75% if CF mutations.
In any case, your wife must be tested for 9% of the CF mutations.
Yours friendly,
Dr. Stavros Doudounakis

25.05.2018