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ASSISTED REPRODUCTION TECHNOLOGY FOR PATIENTS WITH CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS

1999; Lippincott Williams & Wilkins; Volume: 161; Issue: 4 Linguagem: Inglês

10.1016/s0022-5347(01)61617-3

1527-3792

Hiroshi Okada, Kunihiko Yoshimura, Hitoshi Fujioka, Noboru Tatsumi, Akinobu Gotoh, Masato Fujisawa, Kazuo Gohji, Soichi Arakawa, Hiroshi Kato, Shinichiro Kobayashi, S. Isojima, M. Koshida, Sadao Kamidono,

Genetic and Kidney Cyst Diseases

No AccessJournal of UrologyClinical Urology: Original Articles1 Apr 1999ASSISTED REPRODUCTION TECHNOLOGY FOR PATIENTS WITH CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS HIROSHI OKADA, KUNIHIKO YOSHIMURA, HITOSHI FUJIOKA, NOBORU TATSUMI, AKINOBU GOTOH, MASATO FUJISAWA, KAZUO GOHJI, SOICHI ARAKAWA, HIROSHI KATO, SHIN-ICHIRO KOBAYASHI, SHINZO ISOJIMA, MITSUNOBU KOSHIDA, and SADAO KAMIDONO HIROSHI OKADAHIROSHI OKADA More articles by this author , KUNIHIKO YOSHIMURAKUNIHIKO YOSHIMURA More articles by this author , HITOSHI FUJIOKAHITOSHI FUJIOKA More articles by this author , NOBORU TATSUMINOBORU TATSUMI More articles by this author , AKINOBU GOTOHAKINOBU GOTOH More articles by this author , MASATO FUJISAWAMASATO FUJISAWA More articles by this author , KAZUO GOHJIKAZUO GOHJI More articles by this author , SOICHI ARAKAWASOICHI ARAKAWA More articles by this author , HIROSHI KATOHIROSHI KATO More articles by this author , SHIN-ICHIRO KOBAYASHISHIN-ICHIRO KOBAYASHI More articles by this author , SHINZO ISOJIMASHINZO ISOJIMA More articles by this author , MITSUNOBU KOSHIDAMITSUNOBU KOSHIDA More articles by this author , and SADAO KAMIDONOSADAO KAMIDONO More articles by this author View All Author Informationhttps://doi.org/10.1016/S0022-5347(01)61617-3AboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Abstract Purpose: We investigate the frequency of cystic fibrosis transmembrane conductance regulator gene mutations in Japanese patients with congenital bilateral absence of the vas deferens, and assess treatment outcomes of assisted reproduction interventions. Materials and Methods: In 10 Japanese patients with bilateral congenital absence of the vas deferens genetic analysis was performed for known frequent mutations of the cystic fibrosis transmembrane conductance regulator gene using polymerase chain reaction amplification followed by dot-blot hybridization with the allele-specific oligonucleotide probes and direct sequencing. Intracytoplasmic sperm injection using spermatozoa retrieved from the testes was performed in 7 of the couples. Results: No known mutations of the gene were detected in the patients. However, analysis of the polythymidine tract polymorphism in intron 8 revealed 30% allele frequency of 5T. Pregnancy was achieved in 7 cycles of intracytoplasmic sperm injection using spermatozoa retrieved from the testes. Conclusion: The 5T variant in intron 8 polythymidine tract was identified with high allelic frequency in Japanese patients with congenital bilateral absence of the vas deferens, suggesting that the disease in Japan is also partially caused by this particular mutation of the cystic fibrosis transmembrane conductance regulator gene. Modern assisted reproduction technology offers an important option for patients with congenital bilateral absence of the vas deferens. References 1 : A clinical study of congenital absence of the vas deferens. Jap. J. Fertil. Steril.1985; 30: 173. Google Scholar 2 : The incidence of cystic fibrosis gene mutations in patients with congenital bilateral absence of the vas deferens in Scotland. Brit. J. Urol.1997; 79: 74. Google Scholar 3 : Reproductive failure in males with cystic fibrosis. New Engl. J. Med.1968; 279: 65. Google Scholar 4 : Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science1989; 245: 1066. 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Genet.1997; 40: 5. Google Scholar 26 : A cystic fibrosis transmembrane conductance regulator splice variant with partial penetrance associated with variable cystic fibrosis presentations. Amer. J. Respir. Crit. Care Med.1997; 155: 1917. Google Scholar 27 : Conventional in-vitro fertilization versus intracytoplasmic sperm injection for patients requiring microsurgical sperm aspiration. Hum. Reprod.1994; 9: 1705. Google Scholar 28 : High fertilization and pregnancy rate after intracytoplasmic sperm injection with spermatozoa obtained from testicle biopsy. Hum. Reprod.1995; 10: 148. Google Scholar 29 : The use of epididymal and testicular spermatozoa for intrsacytoplasmic sperm injection: genetic implications for male infertility. Hum. Reprod.1995; 10: 2031. Google Scholar 30 : Aetiology of congenital absence of vas deferens: genetic study of three generations. Hum. Reprod.1993; 8: 215. Google Scholar 31 : Congenital absence of the vas deferens: incomplete penetrance of cystic fibrosis gene mutations. J. Urol.1997; 158: 1794. Abstract, Google Scholar From the Department of Urology, Kobe University School of Medicine, Kobe, Department of Gene Therapy, Institute of DNA Medicine, Jikei University School of Medicine, Tokyo, Advanced Fertility Center Fuchu Hospital, Izumifuchu and Koshida Women's Clinic, Osaka, Japan(Okada) Requests for reprints: Department of Urology, Kobe University School of Medicine, 7-5-1, Kusunoki-cho, Chuo-ku, Kobe 650-0017, Japan.© 1999 by American Urological Association, Inc.FiguresReferencesRelatedDetailsCited byRAMAN J and GOLDSTEIN M (2018) THE PRESENCE OF VASAL VESSELS IN MEN WITH CONGENITAL BILATERAL ABSENCE OF THE VAS DEFERENSJournal of Urology, VOL. 172, NO. 5, (1941-1943), Online publication date: 1-Nov-2004. Volume 161Issue 4April 1999Page: 1157-1162 Advertisement Copyright & Permissions© 1999 by American Urological Association, Inc.MetricsAuthor Information HIROSHI OKADA More articles by this author KUNIHIKO YOSHIMURA More articles by this author HITOSHI FUJIOKA More articles by this author NOBORU TATSUMI More articles by this author AKINOBU GOTOH More articles by this author MASATO FUJISAWA More articles by this author KAZUO GOHJI More articles by this author SOICHI ARAKAWA More articles by this author HIROSHI KATO More articles by this author SHIN-ICHIRO KOBAYASHI More articles by this author SHINZO ISOJIMA More articles by this author MITSUNOBU KOSHIDA More articles by this author SADAO KAMIDONO More articles by this author Expand All Advertisement PDF downloadLoading ...