Cystic fibrosis phenotype evaluation and paternity outcome in 50 males with congenital bilateral absence of vas deferens
نویسندگان
چکیده
منابع مشابه
Cystic fibrosis transmembrane conductance regulator gene mutations in infertile males with congenital bilateral absence of the vas deferens.
Congenital bilateral absence of the vas deferens (CBAVD) is characterized by azoospermia and male infertility. Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene are associated with cystic fibrosis (CF), the most common autosomal recessive disorder in Caucasians. Recent publications on CBAVD raised the question whether CFTR gene mutations are responsible for CBAVD ...
متن کاملCystic fibrosis transmembrane conductance regulator (CFTR) gene abnormalities in Indian males with congenital bilateral absence of vas deferens & renal anomalies
BACKGROUND & OBJECTIVES The role of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in congenital bilateral absence of vas deferens and unilateral renal agenesis (CBAVD-URA) has been controversial. Here, we report the cases of five Indian males with CBAVD-URA. The objective was to evaluate the presence or absence of CFTR gene mutations and variants in CBAVD-URA. The fe...
متن کاملCongenital bilateral absence of the vas deferens, cystic fibrosis mutation analysis and intracytoplasmic sperm injection.
The aim of this study was to assess the outcome of intracytoplasmic sperm injection (ICSI) with fresh and frozen-thawed surgically retrieved spermatozoa from men diagnosed with congenital bilateral absence of the vas deferens (CBAVD). Twenty-seven azoospermic men with their partners were treated [25 with CBAVD and two with clinical cystic fibrosis (CF)]. CF gene mutation analysis and genetic co...
متن کاملThe genetic basis of congenital bilateral absence of the vas deferens and cystic fibrosis.
Congenital bilateral absence of the vas deferens (CBAVD) has long been thought to be a rare and distinct clinical and genetic entity. However, it occurs in 1-2% of the infertile male population (Jequier et al, 1985). Recently, this disorder has been shown to represent a mild (reproductive) form of cystic fibrosis (CF) (Anguiano et al, 1992). This finding mandates that proper genetic counseling ...
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ژورنال
عنوان ژورنال: Human Reproduction
سال: 2001
ISSN: 1460-2350,0268-1161
DOI: 10.1093/humrep/16.10.2093