Increased frequency of cystic fibrosis transmembrane conductance regulator gene mutations in infertile males.
OBJECTIVE
To investigate the frequency of mutations of the cystic fibrosis transmembrane regulator (CFTR) gene in males with reduced sperm quality before intracytoplasmic sperm injection (ICSI).


METHODS
The nine most frequent cystic-fibrosis-causing mutations in the German population and IVS8T alleles were analyzed.


METHODS
University-based centers for reproductive medicine and clinical genetics.


METHODS
An unselected group of 597 males with oligo-, astheno-, terato-, crypto-, oligoasthenoteratozoospermia, or azoospermia, which underwent pre-ICSI genetic counseling over a 5-year period.


METHODS
Blood samples were collected from the patients during genetic counseling.


METHODS
Frequency of mutations of CFTR gene in infertile males.


RESULTS
A heterozygous CFTR mutation was observed in 34 of 597 patients (5.70%). None of the patients had two CFTR mutations. Given that our mutation panel recognizes about 82% of heterozygotes, it can be assumed that the frequency of CFTR heterozygotes in our cohort is about 6.94%. The frequency of CFTR mutations in our cohort did not correlate with a reduced sperm count.


CONCLUSIONS
The frequency of cystic fibrosis in the German population is 1:3300. Thus, a CFTR heterozygosity of 3.42% can be estimated. This indicates that in our cohort of infertile males, the frequency of CFTR heterozygosity is twofold higher than in the general population (P<.0001).
Schulz
Solveig
S
Institute of Human Genetics, Otto-von-Guericke-University, Magdeburg, Germany. Solveig.Schulz@medizin.uni-magdeburg.de
Jakubiczka
Sibylle
S
Kropf
Siegfried
S
Nickel
Ingrid
I
Muschke
Petra
P
Kleinstein
Jürgen
J
D015331:Cohort Studies; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000453:epidemiology; D005820:Genetic Testing; D005858:Germany / Q000453:epidemiology; D006579:Heterozygote; D006801:Humans; D008297:Male; D009845:Oligospermia / Q000453:epidemiology / Q000235:genetics*
D019005:Cystic Fibrosis Transmembrane Conductance Regulator