Clin Exp Reprod Med.  2018 Mar;45(1):48-51. 10.5653/cerm.2018.45.1.48.

An infertile patient with Y chromosome b1/b3 deletion presenting with congenital bilateral absence of the vas deferens with normal spermatogenesis

Affiliations
  • 1Department of Urology, Reproduction Center, Yokohama City University Medical Center, Yokohama, Japan. shinnosuke_1014@yahoo.co.jp
  • 2Department of Urology and Renal Transplantation, Yokohama City University Medical Center, Yokohama, Japan.
  • 3Department of Genetics, Yokohama City University Hospital, Yokohama, Japan.

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.

Keyword

Male infertility; Y chromosome microdeletion

MeSH Terms

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*
Full Text Links
  • CERM
Actions
Cited
CITED
export Copy
Close
Share
  • Twitter
  • Facebook
Similar articles
Copyright © 2024 by Korean Association of Medical Journal Editors. All rights reserved.     E-mail: koreamed@kamje.or.kr