Immunology: Congenital unilateral absence of the vas deferens: a heterogeneous disorder with two distinct subpopulations based upon aetiology and mutational status of the cystic fibrosis gene |
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| Authors: | Mickle, J. Milunsky, A. Amos, J.A. Oates, R.D. |
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| Affiliation: | 1Department of Biology, Boston University and Center for Human Genetics Boston, MA 02118 USA 2Departments of Obstetrics and Gynecology, Pathology and Laboratory Medicine, Pediatrics and Center for Human Genetics Boston, MA 02118 USA 3Department of Pathology and Laboratory Medicine and Center for Human Genetics Boston, MA 02118 USA 4Department of Urology, New England Male Reproductive Center, Boston University School of Medicine Boston, MA 02118 USA |
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| Abstract: | A total of 21 infertile men with congenital unilateral absenceof the vas deferens (CUAVD) were studied to determine if thisdisorder involves mutations in the cystic fibrosis (CF) gene.This hypothesis derives from previous work which has establishedthe genetic commonality of CF and congenital bilateral absenceof the vas deferens (CBAVD). Both CF and CBAVD may result fromcompound heterozygosity for CF mutations. In our patients withunilateral vasal aplasia, 12 had anatomically complete and patentvasa deferentia on the contralateral side, i.e. side of thescrotally palpable vas. No CF mutations were detected in thissubgroup. The remaining nine patients had a noniatrogenic occlusionof the contralateral vas at either the inguinal or pelvic level.In this subgroup, eight out of nine (89%) had a mutation detectedin one of their two CF genes. This is the first study to defineaccurately the clinically and anatomically heterogeneous natureof CUAVD and to begin to clarify the genetic basis of unilateralabsence of the vas deferens. |
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| Keywords: | azoospermia/congenital absence of vas deferens/cystic fibrosis/male factor infertility/vas deferens |
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