Clinical and Experimental Reproductive Medicine

The Korean Society for Reproductive Medicine (대한생식의학회)
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An infertile patient with Y chromosome b1/b3 deletion presenting with congenital bilateral absence of the vas deferens with normal spermatogenesis

  • Kuroda, Shinnosuke (Department of Urology, Reproduction Center, Yokohama City University Medical Center) ;
  • Usui, Kimitsugu (Department of Urology, Reproduction Center, Yokohama City University Medical Center) ;
  • Mori, Kohei (Department of Urology, Reproduction Center, Yokohama City University Medical Center) ;
  • Yasuda, Kengo (Department of Urology, Reproduction Center, Yokohama City University Medical Center) ;
  • Asai, Takuo (Department of Urology, Reproduction Center, Yokohama City University Medical Center) ;
  • Sanjo, Hiroyuki (Department of Urology, Reproduction Center, Yokohama City University Medical Center) ;
  • Yakanaka, Hiroyuki (Department of Urology, Reproduction Center, Yokohama City University Medical Center) ;
  • Takeshima, Teppei (Department of Urology, Reproduction Center, Yokohama City University Medical Center) ;
  • Kawahara, Takashi (Department of Urology and Renal Transplantation, Yokohama City University Medical Center) ;
  • Hamanoue, Haruka (Department of Genetics, Yokohama City University Hospital) ;
  • Kato, Yoshitake (Department of Urology, Reproduction Center, Yokohama City University Medical Center) ;
  • Miyoshi, Yasuhide (Department of Urology and Renal Transplantation, Yokohama City University Medical Center) ;
  • Uemura, Hiroji (Department of Urology and Renal Transplantation, Yokohama City University Medical Center) ;
  • Iwasaki, Akira (Department of Urology, Reproduction Center, Yokohama City University Medical Center) ;
  • Yumura, Yasushi (Department of Urology, Reproduction Center, Yokohama City University Medical Center)
  • Received : 2017.12.06
  • Accepted : 2018.02.07
  • Published : 2018.03.31
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Abstract

We report the case of a 46-year-old Chinese male patient who visited our clinic complaining of infertility. Semen analysis revealed azoospermia, and azoospermia factor c region partial deletion (b1/b3) was detected using Y chromosome microdeletion analysis. Testicular sperm extraction was performed after genetic counseling. The bilateral ductus deferens and a portion of the epididymis were absent, whereas the remaining epididymis was expanded. Motile intratesticular spermatozoa were successfully extracted from the seminiferous tubule. On histopathology, nearly complete spermatogenesis was confirmed in almost every seminiferous tubule. To our knowledge, this is the first case report of b1/b3 deletion with a congenital bilateral absence of the vas deferens and almost normal spermatogenesis.

Keywords

References

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