CONGENITAL UNILATERAL ABSENCE OF THE VAS-DEFERENS - A HETEROGENEOUS DISORDER WITH 2 DISTINCT SUBPOPULATIONS BASED UPON ETIOLOGY AND MUTATIONAL STATUS OF THE CYSTIC-FIBROSIS GENE
J. Mickle et al., CONGENITAL UNILATERAL ABSENCE OF THE VAS-DEFERENS - A HETEROGENEOUS DISORDER WITH 2 DISTINCT SUBPOPULATIONS BASED UPON ETIOLOGY AND MUTATIONAL STATUS OF THE CYSTIC-FIBROSIS GENE, Human reproduction, 10(7), 1995, pp. 1728-1735
A total of 21 infertile men with congenital unilateral absence of the
vas deferens (CUAVD) were studied to determine if this disorder involv
es mutations in the cystic fibrosis (CF) gene. This hypothesis derives
from previous work which has established the genetic commonality of C
F and congenital bilateral absence of the vas deferens (CBAVD), Both C
F and CBAVD may result from compound heterozygosity for CF mutations.
In our patients with unilateral vasal aplasia, 12 had anatomically com
plete and patent vasa deferentia on the contralateral side, i,e. side
of the scrotally palpable vas, No CF mutations were detected in this s
ubgroup. The remaining nine patients had a non-iatrogenic occlusion of
the contralateral vas at either the inguinal or pelvic level, In this
subgroup, eight out of nine (89%) had a mutation detected in one of t
heir two CF genes. This is the first study to define accurately the cl
inically and anatomically heterogeneous nature of CUAVD and to begin t
o clarify the genetic basis of unilateral absence of the vas deferens.