BACKGROUND Mutational combinations of the cystic fibrosis transmembrane conductance regulator, CFTR, gene have different phenotypic manifestations at the molecular level with varying clinical consequences for individuals possessing such mutations. Reporting cystic fibrosis transmembrane conductance regulator mutations is important in understanding the genotype-phenotype correlations and associa...

Aim: Congenital Bilateral Absence of the Vas Deferens (CBAVD) is a developmental abnormality that causes infertility in males. According to literature, up 88% CBAVD cases have at least one pathogenic Cystic Fibrosis Transmembrane Conductance Regulator gene (CFTR) mutation. However, based on our previous data, this rate was 15.90% Turkish patients with CBAVD. We aimed identify genomic copy numbe...

This study investigated whether transient, neonatal (days 2-12) treatment of rats with the potent oestrogen, diethylstilboestrol (DES), altered the structure of the cauda epididymis/vas deferens in adulthood, and if the changes observed related to altered development of basal cells in early puberty. Neonatal treatment with 10 microg DES resulted in the following during adulthood: (a) coiling of...