An infertile patient with Y chromosome b1/b3 deletion presenting with congenital bilateral absence of the vas deferens with normal spermatogenesis.
10.5653/cerm.2018.45.1.48
- Author:
Shinnosuke KURODA
1
;
Kimitsugu USUI
;
Kohei MORI
;
Kengo YASUDA
;
Takuo ASAI
;
Hiroyuki SANJO
;
Hiroyuki YAKANAKA
;
Teppei TAKESHIMA
;
Takashi KAWAHARA
;
Haruka HAMANOUE
;
Yoshitake KATO
;
Yasuhide MIYOSHI
;
Hiroji UEMURA
;
Akira IWASAKI
;
Yasushi YUMURA
Author Information
1. Department of Urology, Reproduction Center, Yokohama City University Medical Center, Yokohama, Japan. shinnosuke_1014@yahoo.co.jp
- Publication Type:Case Report
- Keywords:
Male infertility;
Y chromosome microdeletion
- MeSH:
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*
- From:Clinical and Experimental Reproductive Medicine
2018;45(1):48-51
- CountryRepublic of Korea
- Language:English
-
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.
