先天無輸精管病患常併有精蟲分化基因異常

先天無輸精管之病患約有12%並有精蟲分化基因異常
先天無輸精管之病患於治療前應考慮進行基因諮詢篩檢，包括cystic fibrosis, Y chromosome microdeletions,  karyotype abnormalities.


http://humrep.oxfordjournals.org/content/16/3/529.long

Hum Reprod. 2001 Mar;16(3):529-33.

Impaired spermatogenesis in men with congenital absence of the vas deferens.

Meng MV, Black LD, Cha I, Ljung BM, Pera RA, Turek PJ.

Source

Department of Urology, University of California San Francisco School of Medicine, California 94143-0738, USA.

Abstract

It is generally assumed that men with congenital bilateral absence of the vas deferens (CBAVD) have azoospermia because of obstruction and that sperm production is normal. This study examines spermatogenesis in men with CBAVD to assess the validity of this assumption. We identified all men with CBAVD who had undergone either a diagnostic or therapeutic fertility procedure. Procedures included diagnostic biopsy, testis fine needle aspiration (FNA) mapping, microscopic epididymal sperm aspiration (MESA), and testis sperm extraction (TESE). Among 33 CBAVD men, 18 underwent testis biopsy, 27 had MESA/TESE, and 10 had FNA mapping. On evaluation of these procedures, normal spermatogenesis was present in 29 men. Four men (12%) demonstrated impaired spermatogenesis. One patient had FNA testis cytology consistent with late maturation arrest, another demonstrated hypospermatogenesis on biopsy and low sperm yield by MESA, and two patients had pure Sertoli cell only histology on biopsy. Aetiologies for impaired spermatogenesis included varicocele and underlying genetic abnormalities. Although patients with CBAVD are assumed to have normal spermatogenesis and infertility due simply to obstruction, the potential for concomitant defects in sperm production exists. A clinical suspicion of testis failure should prompt further diagnostic evaluation of spermatogenesis prior to sperm retrieval. In addition, genetic counselling should be offered and testing for genetic lesions, including cystic fibrosis gene mutations and/or variants, Y chromosome microdeletions, and karyotype abnormalities, should be considered.