Clinical, andrological and genetic characteristics of patients with congenital bilateral absence of vas deferens (CBAVD)

Samli H., Samli M. M., Yilmaz E., Imirzalioglu N.

ARCHIVES OF ANDROLOGY, cilt.52, sa.6, ss.471-477, 2006 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 52 Sayı: 6
  • Basım Tarihi: 2006
  • Doi Numarası: 10.1080/01485010600691993
  • Dergi Adı: ARCHIVES OF ANDROLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.471-477
  • Hacettepe Üniversitesi Adresli: Hayır

Özet

Congenital bilateral absence of the vas deferens (CBAVD) is a form of infertility with an autosomal recessive genetic background in otherwise healthy males. In this study, we examined the clinical and cystic fibrosis transmembrane-conductance regulator (CFTR) gene mutations in sixty patients with bilateral absence of vas deferens that applied to andrology clinic due to male factor infertility. Urogenital anomalies of vas deferens, seminal vesicle and epididymis were detected in our patient group. CFTR gene mutations, which are known to be frequent among cystic fibrosis patients, could not be detected in our patient group with that high frequency. Delta F508 mutations were detected in only 6% of patients. IVS8 polyT alleles were positive in 68% of patients. No 1677delTA mutations and M470V variants were detected in our patient group. However, sperm retrieval is almost always possible from CBAVD patients; secondary pathologies may also result defective spermatogenesis.