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.
Asian Continental Ancestry Group ; Azoospermia ; Epididymis ; Genetic Counseling ; Humans ; Infertility ; Infertility, Male ; Male ; Middle Aged ; Semen Analysis ; Seminiferous Tubules ; Spermatogenesis* ; Spermatozoa ; Vas Deferens* ; Y Chromosome*