Heterogeneity of reproductive tract abnormalities in men with absence of the vas deferens: role of cystic fibrosis transmembrane conductance regulator gene mutations.
OBJECTIVE
To determine if the types of reproductive tract abnormalities linked to absence of the vas deferens varies with the cystic fibrosis transmembrane conductance regulator (CFTR) genotype.


METHODS
Prospective data gathering.


METHODS
University infertility clinic.


METHODS
Forty-six infertile men with absence of the scrotal vas deferens and no signs of cystic fibrosis.


METHODS
All had blood taken for CFTR gene analysis, 33 had scrotal ultrasounds, and 25 had transrectal ultrasounds.


METHODS
The frequency of testicular, seminal vesicle, and ampullae of the vas deferens malformations was compared between subgroups of men with two, one, or no CFTR gene mutations.


RESULTS
None (0 of 21) of the men with at least one CFTR gene mutations had normal ampullae of the vas or seminal vesicles bilaterally. Two (50%) of 4 men with no CFTR gene mutations had normal ampullae of the vas deferens bilaterally, and 50% had normal bilateral seminal vesicles (statistically significantly different). There was no correlation between testicular malformations and CFTR genotype.


CONCLUSIONS
This study indicates that the severity of the malformations in the testis is unrelated to the CFTR genotype, whereas the frequency and severity of wolffian duct malformations are related directly to the CFTR genotype.
Jarvi
K
K
Department of Surgery, Mount Sinai Hospital, Toronto, Ontario, Canada.
McCallum
S
S
Zielenski
J
J
Durie
P
P
Tullis
E
E
Wilchanski
M
M
Margolis
M
M
Asch
M
M
Ginzburg
B
B
Martin
S
S
Buckspan
M B
MB
Tsui
L C
LC
D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D014644:Genetic Variation; D005837:Genitalia, Male / Q000002:abnormalities*; D006801:Humans; D008297:Male; D009154:Mutation; D011446:Prospective Studies; D012007:Rectum; D012611:Scrotum / Q000000981:diagnostic imaging; D014463:Ultrasonography; D014649:Vas Deferens / Q000002:abnormalities*
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator