Urogenital anomalies in men with congenital absence of the vas deferens. 1996

P N Schlegel, and D Shin, and M Goldstein
Center for Male Reproductive Medicine and Microsurgery, James Buchanan Brady Foundation, New York, USA.

OBJECTIVE We evaluated urogenital anomalies in men with congenital absence of the vas deferens. METHODS A retrospective review was done of 104 subfertile men with congenital absence of the vas deferens (84 bilaterally and 20 unilaterally). RESULTS Of men with unilateral or bilateral congenital absence of the vas deferens 26 and 11%, respectively, had renal agenesis. Of men with unilateral congenital absence of the vas deferens and infertility 80% had genitourinary anamalies affecting the contralateral testis. No man with congenital absence of the vas deferens and renal anomalies had cystic fibrosis transmembrane-conductance regulator (CFTR) gene mutations detected. CONCLUSIONS Other urogenital anomalies are common for men with congenital absence of the vas deferens. CFTR gene mutations frequently contribute to maldevelopment of the vas deferens but vasal agenesis can occur without any evidence of CFTR defects. CFTR abnormalities are rarely detected in men with congenital absence of the vas deferens and renal anomalies.

UI MeSH Term Description Entries
D007668 Kidney Body organ that filters blood for the secretion of URINE and that regulates ion concentrations. Kidneys
D008297 Male Males
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D003456 Cryptorchidism A developmental defect in which a TESTIS or both TESTES failed to descend from high in the ABDOMEN to the bottom of the SCROTUM. Testicular descent is essential to normal SPERMATOGENESIS which requires temperature lower than the BODY TEMPERATURE. Cryptorchidism can be subclassified by the location of the maldescended testis. Testis, Undescended,Abdominal Cryptorchidism,Bilateral Cryptorchidism,Cryptorchidism, Unilateral Or Bilateral,Cryptorchism,Inguinal Cryptorchidism,Testes, Undescended,Undescended Testis,Unilateral Cryptorchidism,Cryptorchidism, Abdominal,Cryptorchidism, Bilateral,Cryptorchidism, Inguinal,Cryptorchidism, Unilateral,Undescended Testes
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D012189 Retrospective Studies Studies used to test etiologic hypotheses in which inferences about an exposure to putative causal factors are derived from data relating to characteristics of persons under study or to events or experiences in their past. The essential feature is that some of the persons under study have the disease or outcome of interest and their characteristics are compared with those of unaffected persons. Retrospective Study,Studies, Retrospective,Study, Retrospective
D012669 Seminal Vesicles A saclike, glandular diverticulum on each ductus deferens in male vertebrates. It is united with the excretory duct and serves for temporary storage of semen. (From McGraw-Hill Dictionary of Scientific and Technical Terms, 4th ed) Seminal Vesicle,Vesicle, Seminal,Vesicles, Seminal
D014564 Urogenital Abnormalities Congenital structural abnormalities of the UROGENITAL SYSTEM in either the male or the female. Genitourinary Abnormalities,Abnormalities, Urogenital,Abnormalities, Genitourinary,Abnormality, Genitourinary,Abnormality, Urogenital,Genitourinary Abnormality,Urogenital Abnormality
D014649 Vas Deferens The excretory duct of the testes that carries SPERMATOZOA. It rises from the SCROTUM and joins the SEMINAL VESICLES to form the ejaculatory duct. Ductus Deferens,Deferens, Ductus,Deferens, Vas
D019005 Cystic Fibrosis Transmembrane Conductance Regulator A chloride channel that regulates secretion in many exocrine tissues. Abnormalities in the CFTR gene have been shown to cause cystic fibrosis. (Hum Genet 1994;93(4):364-8) CFTR Protein,Chloride channels, ATP-gated CFTR,Chloride channels, ATP gated CFTR,Protein, CFTR

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