Autosomal recessive hereditary congenital aplasia of the vasa deferentia in four siblings - PubMed (original) (raw)
Autosomal recessive hereditary congenital aplasia of the vasa deferentia in four siblings
T M Schellen et al. Fertil Steril. 1980 Oct.
Free article
Abstract
Congential absence of the vas deferens is a frequently occurring cause of infertility. Such a disorder can be accompanied by renal agenesis and therefore pyelography should be performed. That such a disorder in man could have genetic aspects has not been mentioned in the literature, but there are reports that this disorder is hereditary in some animals. A family of nine children is described in which four of the five sons were infertile as a result of congenital aplasia of the vasa deferentia. Since there was no evidence that these men had cystic fibrosis and since they did not have the mosaic form of Klinefelter's syndrome, an unrelated developmental defect is postulated. The genetic aspects are discussed and the conclusion is made that the inheritance pattern most probably is autosomal recessive. Finally, the therapeutic problems are discussed. At this time, surgical treatment of this disorder is not encouraging.
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