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KMID : 1033620180450010048
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Clinical and Experimental Reproductive Medicine
2018 Volume.45 No. 1 p.48 ~ p.51
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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
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Kuroda Shinnosuke
Usui Kimitsugu
Mori Kohei
Yasuda Kengo
Asai Takuo
Sanjo Hiroyuki
Yakanaka Hiroyuki
Takeshima Teppei
Kawahara Takashi
Hamanoue Haruka
Kato Yoshitake
Miyoshi Yasuhide
Uemura Hiroji
Iwasaki Akira
Yumura Yasushi
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Abstract
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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.
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KEYWORD
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Male infertility, Y chromosome microdeletion
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