Physical symptoms with mild mutation of the CFTR gene

Question

I (male, 30 years old, central-European descent, 170cm, 71kg) have azoospermia, which was explained by evidence of a presumed compound heterozygous combination of the F508del and R117H mutations. More precisely, the statement says that “the patient is heterozygous for the IVS8-7T and the IVS8-9T allele (7T/9T; normal alleles).” I am not aware of any incidence of CF in my family so far.

Thus, I live without the clinical symptoms of classic CF. Nevertheless, I have been wondering since getting this diagnosis three weeks ago whether individual aspects of my body/my health should be re-evaluated given this diagnosis, and would appreciate your advice on this. I am not interested in a diagnosis, but would like to know whether certain abnormalities could be explained at all in relation to CF.

Build: minor male body hair despite normal testosterone values, slightly enlarged breasts (Tanner stage B1 on both sides, muscles relatively poorly developed).

Voice: voice break not completed during puberty, granuloma on the vocal chords, vocal chords often feel throaty, my speech therapist found that my chest is often not opened optimally.

Neurology: suspicion of restless leg syndrome, occasionally trembling hands without restlessness or feeling cold.

Allergies: strong allergies against early-bloomers and others lead to rather exhausting constant sneezing (which fortunately can be regulated by medication).

Stomach: frequent acid reflux or abdominal murmurs.

I would be happy about any hints.

Answer

Hello,

your molecular genetic results are in line with so-called occlusive azoospermia, most likely as a result of CBAVD (congenital bilateral absence of the vas deferens = herediaty lack of the spermatic ducts on both sides).

In most cases, most men who have the same mutations as you do not have any other symptoms apart from azoospermia, i.e. a monosymptomatic form of CF is at hand; one also speaks of a CFTR-RD (RD is short for “related disease,” i.e. for a CFTR disease that is not CF).

In rare cases azoospermia can be accompanied by one or more CF symptoms, which then signifies so-called “mild” CF.

At first glance, the symptoms you characterize do not belong to the spectrum of CF symptoms. However, a diagnosis (or the ruling out of one) is not possible via the internet. Given the mutations detected with you, it is advisable for you to present at a CF clinic (there are a number of adult CF clinics by now) on the one hand; on the other hand, you should also get a genetic consultation (you will find genetic information centers at every university hospital, but there are also a number of resident human genetics specialists).

Kind regards
Prof. Stuhrmann-Spangenberg

07.09.2010